http://www.checkrare.com
Rare Discussions is CheckRare's flagship interview podcast featuring conversations with leading physicians, researchers, patient advocates, and industry experts. These episodes explore advances in diagnosis, treatment, research, and patient care across the rare disease landscape.  

Whether highlighting groundbreaking therapies or sharing expert clinical perspectives, Rare Discussions highlights the experts who are shaping the future of rare disease medicine.]]>enMedicineYeshttps://d3wo5wojvuv7l.cloudfront.net/t_rss_itunes_square_1400/images.spreaker.com/original/07385c6d4ac8e1b23f646f100d92a0fa.jpghttp://www.checkrare.comWed, 05 Aug 2026 22:28:22 +0000CheckRare EditorsCheckRarepublisher@checkrare.comConversations with the leaders advancing rare disease care.   Rare Discussions is CheckRare's flagship interview podcast featuring conversations with leading physicians, researchers, patient advocates, and industry experts. These episodes explore...
Rare Discussions is CheckRare's flagship interview podcast featuring conversations with leading physicians, researchers, patient advocates, and industry experts. These episodes explore advances in diagnosis, treatment, research, and patient care across the rare disease landscape.  

Whether highlighting groundbreaking therapies or sharing expert clinical perspectives, Rare Discussions highlights the experts who are shaping the future of rare disease medicine.]]>trueepisodichttps://www.spreaker.com/episode/spinal-muscular-atrophy-the-changing-definition-of-success-an-expert-panel-on-the-evolution-of-sma-care--72771555Spinal muscular atrophy (SMA) has undergone a remarkable transformation over the past decade. Drs. Nancy Kuntz, Alicia Henriquez, and Angela Lek discuss how advances in disease-modifying therapies have fundamentally changed the outlook for children living with SMA, leading clinicians to rethink what constitutes a successful outcome in SMA care.

Over the past decade, the management and treatment of spinal muscular atrophy (SMA) have been transformed, resulting in remarkable effects on young patients’ neuromuscular function status, mobility, and quality of life. These improvements would have been difficult to imagine just a few years ago and challenge clinicians, researchers, patients, and families to rethink what is defined as a successful outcome in SMA care. 

According to Nancy Kuntz, MD, a child neuromuscular specialist from Lurie Children’s Hospital, Chicago, when before the use of newborn screening and the latest treatments, the main outcome of interest was prolonged patient survival. Today, achievable patient outcomes include sitting upright, and walking independently. This is a long way from the palliative view of SMA care. The use of standard measurement scales of patient outcomes need to keep up with evolving expectations of caregivers and patients.This will require objective data, like biomarkers, x-ray changes, and the ability to see significant changes in motor scale scores, focused on types of motor function that is important to patients.

Alicia Henriquez, MD, a pediatric neuromuscular specialist from Seattle Children’s Hospital, pointed to one of the standard functional scales used in therapeutic clinical trials, the Hammersmith Functional Motor Scale Expanded (HFMSE). It is based on 33 distinct functional domains, but not all of those domains are of equal importance to patients and caregivers. And a change in HFMSE scale measurement may not be statistically significant for the purposes of clinical trials, but that incremental change in one domain may be highly important for the individual. 

The scales do a better job of detecting major changes in function but not what those changes mean for patients.The Muscular Dystrophy Association (MDA) is helping to bring more light to this issue. Angela Lek, PhD, Chief Research Officer at the Association, described how MDA is sponsoring registry studies to collect real-world outcomes of individuals with SMA. This may result in patient-reported measures that may more-directly reflect improvements that patients believe are important.For more information on SMA visit https://checkrare.com/spinal-muscular-atrophy-a-decade-of-progress/









Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/72771555Wed, 01 Jul 2026 15:07:22 +0000CheckRare EditorsSpinal muscular atrophy (SMA) has undergone a remarkable transformation over the past decade. Drs. Nancy Kuntz, Alicia Henriquez, and Angela Lek discuss how advances in disease-modifying therapies have fundamentally changed the outlook for children...Spinal muscular atrophy (SMA) has undergone a remarkable transformation over the past decade. Drs. Nancy Kuntz, Alicia Henriquez, and Angela Lek discuss how advances in disease-modifying therapies have fundamentally changed the outlook for children living with SMA, leading clinicians to rethink what constitutes a successful outcome in SMA care.

Over the past decade, the management and treatment of spinal muscular atrophy (SMA) have been transformed, resulting in remarkable effects on young patients’ neuromuscular function status, mobility, and quality of life. These improvements would have been difficult to imagine just a few years ago and challenge clinicians, researchers, patients, and families to rethink what is defined as a successful outcome in SMA care. 

According to Nancy Kuntz, MD, a child neuromuscular specialist from Lurie Children’s Hospital, Chicago, when before the use of newborn screening and the latest treatments, the main outcome of interest was prolonged patient survival. Today, achievable patient outcomes include sitting upright, and walking independently. This is a long way from the palliative view of SMA care. The use of standard measurement scales of patient outcomes need to keep up with evolving expectations of caregivers and patients.This will require objective data, like biomarkers, x-ray changes, and the ability to see significant changes in motor scale scores, focused on types of motor function that is important to patients.

Alicia Henriquez, MD, a pediatric neuromuscular specialist from Seattle Children’s Hospital, pointed to one of the standard functional scales used in therapeutic clinical trials, the Hammersmith Functional Motor Scale Expanded (HFMSE). It is based on 33 distinct functional domains, but not all of those domains are of equal importance to patients and caregivers. And a change in HFMSE scale measurement may not be statistically significant for the purposes of clinical trials, but that incremental change in one domain may be highly important for the individual. 

The scales do a better job of detecting major changes in function but not what those changes mean for patients.The Muscular Dystrophy Association (MDA) is helping to bring more light to this issue. Angela Lek, PhD, Chief Research Officer at the Association, described how MDA is sponsoring registry studies to collect real-world outcomes of individuals with SMA. This may result in patient-reported measures that may more-directly reflect improvements that patients believe are important.For more information on SMA visit https://checkrare.com/spinal-muscular-atrophy-a-decade-of-progress/









Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>3204falsefullhttps://www.spreaker.com/episode/growth-hormone-deficiency-causes-early-detection-and-treatment-robert-rapaport-md--72417689
The most important issue in young patients with growth failure is to detect it early, according to Dr. Rapaport. “As soon as you see a major deviation from the [expected growth chart] norm, act on it, even at age 2,” he emphasized, “because we know that best outcomes result from early detection.” A growth failure diagnosis is delayed or underdiagnosed in minority groups; it is underdiagnosed in girls relative to boys. In most cases, children are referred to the Comprehensive Growth Center by pediatricians and primary care physicians, and it should be monitored from birth. Growth failure in children can be caused by growth hormone (GH) deficiency, malnutrition, celiac disease, pituitary tumor (which suppresses the release of growth hormone) or a very rare genetic deletion. Once the potentially nonendocrine causes of GH deficiency are excluded, then causes related to the hypothalamus–pituitary-thyroid axis should be investigated, said Dr. Rapaport. 

Growth hormone stimulation testing and low blood levels of insulin-like growth factor (IGF) and IGF-binding protein concentrations can help confirm GH deficiency as the cause. However, low IGF-1 levels can also be caused by excessively high GH levels. In children diagnosed with GH deficiency, weekly GH injections are typically prescribed. In addition to monitoring these children for potential side effects of the GH injections, Dr. Rapoport recommended that they should undergo lab testing for IGF-1 blood concentrations every 3 to 6 months, until the bones fuse (signaling the conclusion of growth).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/72417689Mon, 08 Jun 2026 13:10:07 +0000CheckRare EditorsRobert Rapaport, MD, Professor of Pediatric Endocrinology, and Director of the Comprehensive Growth Center at the Icahn School of Medicine, Mount Sinai Medical Center, New York City, discusses the causes of growth hormone deficiency and its treatment....
The most important issue in young patients with growth failure is to detect it early, according to Dr. Rapaport. “As soon as you see a major deviation from the [expected growth chart] norm, act on it, even at age 2,” he emphasized, “because we know that best outcomes result from early detection.” A growth failure diagnosis is delayed or underdiagnosed in minority groups; it is underdiagnosed in girls relative to boys. In most cases, children are referred to the Comprehensive Growth Center by pediatricians and primary care physicians, and it should be monitored from birth. Growth failure in children can be caused by growth hormone (GH) deficiency, malnutrition, celiac disease, pituitary tumor (which suppresses the release of growth hormone) or a very rare genetic deletion. Once the potentially nonendocrine causes of GH deficiency are excluded, then causes related to the hypothalamus–pituitary-thyroid axis should be investigated, said Dr. Rapaport. 

Growth hormone stimulation testing and low blood levels of insulin-like growth factor (IGF) and IGF-binding protein concentrations can help confirm GH deficiency as the cause. However, low IGF-1 levels can also be caused by excessively high GH levels. In children diagnosed with GH deficiency, weekly GH injections are typically prescribed. In addition to monitoring these children for potential side effects of the GH injections, Dr. Rapoport recommended that they should undergo lab testing for IGF-1 blood concentrations every 3 to 6 months, until the bones fuse (signaling the conclusion of growth).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>656falsefullhttps://www.spreaker.com/episode/arginine-vasopressin-deficiency-avp-d-overview-christopher-romero-md--72319373
Central diabetes insipidus, a rare disease, is unrelated to the common medical problem diabetes mellitus, other than they are both problems related to endocrinologic dysfunction. Whereas diabetes mellitus involves pancreatic function and the production of the hormone insulin, central diabetes insipidus involves the pituitary gland and regulation of the hormone vasopressin. Dr. Romero stated that a new name for central diabetes insipidus was introduced in 2024—arginine vasopressin deficiency (AVP-D) to reflect the difference and relieve misconceptions caused by the traditional naming. 

The central issue with AVP-D is the function of antidiuretic hormone, which regulates water concentrations in the body. Pediatric and adult patients with this vasopressin deficiency (which mediates antidiuretic hormone levels) excrete more urine than patients without the deficiency. “It causes these patients to drink more, to make up for the water loss,” said Dr. Romero, “resulting in kids being thirstier and having to use the bathroom more often.” 

As a result, AVP-D can lead to weight loss and loss of appetite, dehydration, and electrolyte abnormalities. He also pointed out that the abnormal cycle of drinking and urination in children interferes with school work and performance. 

“Unless you’re aware of [AVP-D], you may miss the diagnosis,” said Dr. Romero. The pituitary gland is involved with so many functions, and symptoms only slowly evolve. Issues with the onset of puberty and growth may hint at the pituitary source of the problem. 

Historically, treatment was managed with an oral formulation of vasopressin, which was first available in the 1970s. An intravenous form was available in inpatient settings. A nasal spray formulation was subsequently developed, and is useful particularly with older children. Dr. Romero pointed out, figuring out the correct dosage for an individual pediatric patient is key; every child with AVP-D is different in terms of how much water they lose during the drinking–urination cycle. “Even though the oral form was effective, only two dosages were available. You have to titrate the dose to balance the water loss,” he emphasized.

The introduction of Desmoda in February 2026, an oral solution of desmopressin acetate 0.05 mg/mL, allows for easier titration. The solution may be easier to take than the pills for young children, and caregivers may have a better idea of precisely how much medication the patient is getting. For those reasons, Dr. Romero believes this formulation may be the best option for young pediatric patients with AVP-D.
 


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/72319373Wed, 03 Jun 2026 11:36:19 +0000CheckRare EditorsChristopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai discusses arginine vasopressin deficiency. The name of the rare...
Central diabetes insipidus, a rare disease, is unrelated to the common medical problem diabetes mellitus, other than they are both problems related to endocrinologic dysfunction. Whereas diabetes mellitus involves pancreatic function and the production of the hormone insulin, central diabetes insipidus involves the pituitary gland and regulation of the hormone vasopressin. Dr. Romero stated that a new name for central diabetes insipidus was introduced in 2024—arginine vasopressin deficiency (AVP-D) to reflect the difference and relieve misconceptions caused by the traditional naming. 

The central issue with AVP-D is the function of antidiuretic hormone, which regulates water concentrations in the body. Pediatric and adult patients with this vasopressin deficiency (which mediates antidiuretic hormone levels) excrete more urine than patients without the deficiency. “It causes these patients to drink more, to make up for the water loss,” said Dr. Romero, “resulting in kids being thirstier and having to use the bathroom more often.” 

As a result, AVP-D can lead to weight loss and loss of appetite, dehydration, and electrolyte abnormalities. He also pointed out that the abnormal cycle of drinking and urination in children interferes with school work and performance. 

“Unless you’re aware of [AVP-D], you may miss the diagnosis,” said Dr. Romero. The pituitary gland is involved with so many functions, and symptoms only slowly evolve. Issues with the onset of puberty and growth may hint at the pituitary source of the problem. 

Historically, treatment was managed with an oral formulation of vasopressin, which was first available in the 1970s. An intravenous form was available in inpatient settings. A nasal spray formulation was subsequently developed, and is useful particularly with older children. Dr. Romero pointed out, figuring out the correct dosage for an individual pediatric patient is key; every child with AVP-D is different in terms of how much water they lose during the drinking–urination cycle. “Even though the oral form was effective, only two dosages were available. You have to titrate the dose to balance the water loss,” he emphasized.

The introduction of Desmoda in February 2026, an oral solution of desmopressin acetate 0.05 mg/mL, allows for easier titration. The solution may be easier to take than the pills for young children, and caregivers may have a better idea of precisely how much medication the patient is getting. For those reasons, Dr. Romero believes this formulation may be the best option for young pediatric patients with AVP-D.
 


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1154falsefullhttps://www.spreaker.com/episode/systemic-mastocytosis-recognition-diagnosis-and-clinical-management--72055165
It provides timely and practical education on systemic mastocytosis (SM). To obtain CME credit, visit https://checkrare.com/learning/p-systemic-mastocytosis-recognition-diagnosis-and-clinical-management/

SM is a rare, chronic disorder driven by aberrant mast cell accumulation across multiple organ systems. Although diagnostic criteria are well established, a recent natural history study found that the average time to diagnosis is nearly five years. This prolonged delay—largely due to limited awareness of SM and its early symptoms—often results in unnecessary disease progression and inappropriate treatment. To address this clinical gap, this activity, led by Daniel J. DeAngelo, MD, PhD, Chief, Division of Leukemia at the Dana-Farber Cancer Institute, Harvard Medical School, in Boston, MA, provides an overview of the early signs and symptoms of SM, outlines the appropriate diagnostic criteria and tools, and reinforces the importance of timely referral and testing for these patients to be properly managed. 

Led by a clinical expert with experience diagnosing and treating patients with SM, this 45-minute CME program will highlight early signs of SM, outline diagnostic criteria and tools, and reinforce the importance of timely referral/testing. 

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in hematology, dermatology, gastroenterology, immunology, and family practice. Other members of the care team may also participate.

Learning Objectives
After participating in the activity, learners should be better able to:
Describe the early symptoms of systemic mastocytosis and its clinical relevance.
Apply best practices to diagnose systemic mastocytosis more efficiently.

Faculty
Daniel J. DeAngelo, MD, PhD
Chief, Division of Leukemia
Dana-Farber Cancer Institute,
Harvard Medical School
Boston, MA

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:

Faculty Educator/Planner
Dr. DeAngelo discloses the following relevant financial relationships with ineligible companies:
Consultant: Amgen, Autolos, Blueprint Medicines, Incyte, Jazz, Novartis, Pfizer, and Takeda 
Research Support: AbbVie, Glycomimetics, Novartis, and Blueprint Medicines
Data Safety Monitoring Board: Daiichi-Sankyo

Other Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation

In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of participation.
There are no fees to participate in the activity.  Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact
For any questions, please contact: CEServices@academycme.org

Copyright
© 2026. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/72055165Mon, 18 May 2026 12:45:30 +0000CheckRare EditorsThis accredited continuing education program is supported by an educational grant from Blueprint Medicine.  It provides timely and practical education on systemic mastocytosis (SM). To obtain CME credit, visit...
It provides timely and practical education on systemic mastocytosis (SM). To obtain CME credit, visit https://checkrare.com/learning/p-systemic-mastocytosis-recognition-diagnosis-and-clinical-management/

SM is a rare, chronic disorder driven by aberrant mast cell accumulation across multiple organ systems. Although diagnostic criteria are well established, a recent natural history study found that the average time to diagnosis is nearly five years. This prolonged delay—largely due to limited awareness of SM and its early symptoms—often results in unnecessary disease progression and inappropriate treatment. To address this clinical gap, this activity, led by Daniel J. DeAngelo, MD, PhD, Chief, Division of Leukemia at the Dana-Farber Cancer Institute, Harvard Medical School, in Boston, MA, provides an overview of the early signs and symptoms of SM, outlines the appropriate diagnostic criteria and tools, and reinforces the importance of timely referral and testing for these patients to be properly managed. 

Led by a clinical expert with experience diagnosing and treating patients with SM, this 45-minute CME program will highlight early signs of SM, outline diagnostic criteria and tools, and reinforce the importance of timely referral/testing. 

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in hematology, dermatology, gastroenterology, immunology, and family practice. Other members of the care team may also participate.

Learning Objectives
After participating in the activity, learners should be better able to:
Describe the early symptoms of systemic mastocytosis and its clinical relevance.
Apply best practices to diagnose systemic mastocytosis more efficiently.

Faculty
Daniel J. DeAngelo, MD, PhD
Chief, Division of Leukemia
Dana-Farber Cancer Institute,
Harvard Medical School
Boston, MA

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:

Faculty Educator/Planner
Dr. DeAngelo discloses the following relevant financial relationships with ineligible companies:
Consultant: Amgen, Autolos, Blueprint Medicines, Incyte, Jazz, Novartis, Pfizer, and Takeda 
Research Support: AbbVie, Glycomimetics, Novartis, and Blueprint Medicines
Data Safety Monitoring Board: Daiichi-Sankyo

Other Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation

In support of improving patient...]]>2699falsefullhttps://www.spreaker.com/episode/prader-willi-syndrome-clinical-features-and-early-identification--71612178
Prader–Willi syndrome was first reported in 1956, and deletions in chromosome 15 were first identified in the 1980s. Dr. Butler has been working on the genetics of Prader–Willi syndrome since that decade. 
Dr. Butler said that Prader–Willi syndrome was the first example of a disorder caused by “genetic imprinting,” in which it matters whether genes are contributed by the mother or the father. In 70% of the cases of this disorder, the father’s contribution is missing from chromosome 15q13, and 25% of cases are the result of both copies of chromosome 15 being from the mother (referred to as “disomy”). 
Babies born with this genetic anomaly have severe hypotonia, and they have no interest in sucking or feeding. They often have decreased muscle mass and energy. “These infants look like they have a major problem at birth,” stated Dr. Butler. They need to be tube-fed. Once a genetic cause is suspected, Prader-Willi syndrome is quickly diagnosed; it is a very rare disease that also has very unique features. Pediatricians may see only one of these patients every 10 years. Therefore, according to Dr. Butler, “it is the parents who oftentimes make the diagnosis, through what they have seen on the Internet, prompting genetic testing.” 

Despite their problems with feeding in the neonatal period, infants with Prader–Willi syndrome will begin to gain an interest in feeding by around age 2 to 3 years. By age 6 years, they develop hyperphasia. “Once their appetite is turned on,” he said, “it is never off.” Uncontrolled, this results in obesity and life-threatening conditions, such as type 2 diabetes and stomach rupture.

Early identification is key, and determining the genetic subtype is extremely important to building a multidisciplinary care team. There are seven different genetic subtypes, which can impact outcomes and management. Typically, the care team will include the medical geneticist and genetic counselors, endocrinologists (to manage the use of growth hormone and diabetes-related treatment), dietitians to manage and monitor caloric intake, mental health experts to address behavioral issues and the risk of self-injury, gastroenterologists, and potentially even sleep medicine professionals. The specialists comprising the care team will change over the patient’s lifespan; occupational therapy and speech therapy may well be required as the patient ages. 

The treatment of hyperphagia associated with Prader–Willi syndrome, the number 1 issue, is a particularly active area of research. The idea is to avoid the onset of obesity, which can lead to most of the comorbidities and complications.  


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/71612178Fri, 24 Apr 2026 12:33:06 +0000CheckRare EditorsMerlin G. Butler, MD, Medical Geneticist and Professor, Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, and one of the pioneers in Prader–Willi syndrome research, discusses the...
Prader–Willi syndrome was first reported in 1956, and deletions in chromosome 15 were first identified in the 1980s. Dr. Butler has been working on the genetics of Prader–Willi syndrome since that decade. 
Dr. Butler said that Prader–Willi syndrome was the first example of a disorder caused by “genetic imprinting,” in which it matters whether genes are contributed by the mother or the father. In 70% of the cases of this disorder, the father’s contribution is missing from chromosome 15q13, and 25% of cases are the result of both copies of chromosome 15 being from the mother (referred to as “disomy”). 
Babies born with this genetic anomaly have severe hypotonia, and they have no interest in sucking or feeding. They often have decreased muscle mass and energy. “These infants look like they have a major problem at birth,” stated Dr. Butler. They need to be tube-fed. Once a genetic cause is suspected, Prader-Willi syndrome is quickly diagnosed; it is a very rare disease that also has very unique features. Pediatricians may see only one of these patients every 10 years. Therefore, according to Dr. Butler, “it is the parents who oftentimes make the diagnosis, through what they have seen on the Internet, prompting genetic testing.” 

Despite their problems with feeding in the neonatal period, infants with Prader–Willi syndrome will begin to gain an interest in feeding by around age 2 to 3 years. By age 6 years, they develop hyperphasia. “Once their appetite is turned on,” he said, “it is never off.” Uncontrolled, this results in obesity and life-threatening conditions, such as type 2 diabetes and stomach rupture.

Early identification is key, and determining the genetic subtype is extremely important to building a multidisciplinary care team. There are seven different genetic subtypes, which can impact outcomes and management. Typically, the care team will include the medical geneticist and genetic counselors, endocrinologists (to manage the use of growth hormone and diabetes-related treatment), dietitians to manage and monitor caloric intake, mental health experts to address behavioral issues and the risk of self-injury, gastroenterologists, and potentially even sleep medicine professionals. The specialists comprising the care team will change over the patient’s lifespan; occupational therapy and speech therapy may well be required as the patient ages. 

The treatment of hyperphagia associated with Prader–Willi syndrome, the number 1 issue, is a particularly active area of research. The idea is to avoid the onset of obesity, which can lead to most of the comorbidities and complications.  


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>4469geneticist,genetics,medical,prader-willi,rare-diseasefalsefullhttps://www.spreaker.com/episode/submission-of-new-drug-application-rusfertide-for-polycythemia-vera--70112775
PV is characterized by excess red blood cells in the bloodstream, increasing the risk for blood clots. Most cases of PV are acquired and occur more frequently in men than in women. The condition has been associated with genetic changes in the JAK2 and TET2 genes. Rusfertide is an investigational first-in-class subcutaneously administered hepcidin mimetic peptide designed to regulate iron homeostasis and red blood cell production to control hematocrit levels in patients with PV.

The NDA submission is based on positive 32-week primary analysis and 52-week results from the phase 3, global, randomized, placebo-controlled VERIFY clinical trial (NCT05210790). In this study, patients receiving rusfertide plus standard of care therapy demonstrated a substantially higher response rate compared to placebo plus standard of care, including durable hematocrit control, a reduction in phlebotomy requirements and improvement in pre-specified patient reported outcome endpoints.

Rusfertide has received Breakthrough Therapy Designation, Orphan Drug Designation, and Fast Track Designation from the FDA.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/70112775Tue, 17 Feb 2026 21:06:43 +0000CheckRare EditorsDinesh Patel, PhD, CEO of Protagonist Therapeutics, discusses the New Drug Application (NDA) submission to the US Food and Drug Administration (FDA) for rusfertide to treat adults with polycythemia vera (PV). PV is characterized by excess red blood...
PV is characterized by excess red blood cells in the bloodstream, increasing the risk for blood clots. Most cases of PV are acquired and occur more frequently in men than in women. The condition has been associated with genetic changes in the JAK2 and TET2 genes. Rusfertide is an investigational first-in-class subcutaneously administered hepcidin mimetic peptide designed to regulate iron homeostasis and red blood cell production to control hematocrit levels in patients with PV.

The NDA submission is based on positive 32-week primary analysis and 52-week results from the phase 3, global, randomized, placebo-controlled VERIFY clinical trial (NCT05210790). In this study, patients receiving rusfertide plus standard of care therapy demonstrated a substantially higher response rate compared to placebo plus standard of care, including durable hematocrit control, a reduction in phlebotomy requirements and improvement in pre-specified patient reported outcome endpoints.

Rusfertide has received Breakthrough Therapy Designation, Orphan Drug Designation, and Fast Track Designation from the FDA.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1115falsefullhttps://www.spreaker.com/episode/chapter-8-gene-therapy-discussion-and-q-a--69167135Alan Beggs, PhD
Director of the Manton Center for Orphan Disease Research
Sir Edwin and Lady Manton Professor of Pediatrics, Boston Children's Hospital
Harvard Medical School, Boston, MA, USA
 
Julie A. Parsons, MD
Haberfield Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine, Children's Hospital Colorado
Aurora, CO, USA

The ASPIRO Clinical Trial is on clinical hold since September 2021. In this part, Doctors Beggs and Parsons will discuss key issues on gene therapy development.

Question: Is there a standardized immunomodulation regimen being considered for gene therapy?

Julie A. Parsons, MD
As I mentioned, right now, I think there are a number of different concepts that are being utilized. We don't really have a recommended standard regimen at this point. There are a number of different trials that are ongoing looking at trying to answer this question. In some of the clinical trials, there is an immune modulating regimen that is being put in place but being looked at. There isn't anything that we have as a standard at this moment for all gene transfer therapies, but I'm hopeful that we will come up with something that really makes sense in each patient population as we go forward with specific gene transfer therapies.

Question: What are the long-term implications, safety and efficacy of a one-time gene therapy in pediatric patients with neuromuscular diseases?

Alan Beggs, PhD
One question is the efficacy. For example, Donovan Decker's story, he had an experimental treatment of one muscle. It was a phase one safety trial, and he knew that nothing was going to come of it in terms of direct benefit to him. As a result, though, 25, 30 years later, he still has a tighter against AAV vectors. He's not a candidate for gene therapy under current protocols, although there's a lot of work going on to redosing. But for now, it's a one-time treatment. What you get is what you get, and there's not a chance to go back and do it again.

The other question is durability. We really don't know about the long-term durability for these treatments. I should say that, for example, in the studies that we did, David Mack, who's here in the audience, managed a dog colony for a dog model of excellent tubular myopathy. Those animals lived 10 years in a... We never used the C-word, but they were cured. They were healthy, happy, normal dogs who would have had to be put down at 6 months of age otherwise. And then, as we heard, I'll let you talk about the concern for unanticipated SAEs as time goes on, but I think there's other aspects we need to think about.

Julie A. Parsons, MD
Yeah. I think that this is really the key question that all of us are going to need to help answer over the next several years. Efficacy, we're looking at outcomes, and outcomes come in a variety of flavors. I think we do a decent job with motor outcomes. We don't do a decent job with some other outcomes. I think we need to look more broadly in terms of what we mean in terms of beneficial outcomes and really take some of those cues from the patients themselves about if these are efficacious treatments, because, again, the risk is high as we deliver these agents, and we need to know that it's worth it to the patients and families.

In terms of safety, we're working on it. There are all sorts of things that are coming forward as issues with these patients. I think that collectively as a community, that our responsibility is to follow patients for the long term. There are lots of registries and outcome studies. We're not very good as a community about reporting adverse events to central groups. We're not great about broadcasting that to each other in real-time. I think those are things that we really need to work on as a community in terms of helping with the safety issues so that we all have a communal better understanding of what some of those issues are.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69167135Mon, 22 Dec 2025 14:22:43 +0000CheckRare EditorsAlan Beggs, PhD Director of the Manton Center for Orphan Disease Research Sir Edwin and Lady Manton Professor of Pediatrics, Boston Children's Hospital Harvard Medical School, Boston, MA, USA   Julie A. Parsons, MD Haberfield Endowed Chair in...Alan Beggs, PhD
Director of the Manton Center for Orphan Disease Research
Sir Edwin and Lady Manton Professor of Pediatrics, Boston Children's Hospital
Harvard Medical School, Boston, MA, USA
 
Julie A. Parsons, MD
Haberfield Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine, Children's Hospital Colorado
Aurora, CO, USA

The ASPIRO Clinical Trial is on clinical hold since September 2021. In this part, Doctors Beggs and Parsons will discuss key issues on gene therapy development.

Question: Is there a standardized immunomodulation regimen being considered for gene therapy?

Julie A. Parsons, MD
As I mentioned, right now, I think there are a number of different concepts that are being utilized. We don't really have a recommended standard regimen at this point. There are a number of different trials that are ongoing looking at trying to answer this question. In some of the clinical trials, there is an immune modulating regimen that is being put in place but being looked at. There isn't anything that we have as a standard at this moment for all gene transfer therapies, but I'm hopeful that we will come up with something that really makes sense in each patient population as we go forward with specific gene transfer therapies.

Question: What are the long-term implications, safety and efficacy of a one-time gene therapy in pediatric patients with neuromuscular diseases?

Alan Beggs, PhD
One question is the efficacy. For example, Donovan Decker's story, he had an experimental treatment of one muscle. It was a phase one safety trial, and he knew that nothing was going to come of it in terms of direct benefit to him. As a result, though, 25, 30 years later, he still has a tighter against AAV vectors. He's not a candidate for gene therapy under current protocols, although there's a lot of work going on to redosing. But for now, it's a one-time treatment. What you get is what you get, and there's not a chance to go back and do it again.

The other question is durability. We really don't know about the long-term durability for these treatments. I should say that, for example, in the studies that we did, David Mack, who's here in the audience, managed a dog colony for a dog model of excellent tubular myopathy. Those animals lived 10 years in a... We never used the C-word, but they were cured. They were healthy, happy, normal dogs who would have had to be put down at 6 months of age otherwise. And then, as we heard, I'll let you talk about the concern for unanticipated SAEs as time goes on, but I think there's other aspects we need to think about.

Julie A. Parsons, MD
Yeah. I think that this is really the key question that all of us are going to need to help answer over the next several years. Efficacy, we're looking at outcomes, and outcomes come in a variety of flavors. I think we do a decent job with motor outcomes. We don't do a decent job with some other outcomes. I think we need to look more broadly in terms of what we mean in terms of beneficial outcomes and really take some of those cues from the patients themselves about if these are efficacious treatments, because, again, the risk is high as we deliver these agents, and we need to know that it's worth it to the patients and families.

In terms of safety, we're working on it. There are all sorts of things that are coming forward as issues with these patients. I think that collectively as a community, that our responsibility is to follow patients for the long term. There are lots of registries and outcome studies. We're not very good as a community about reporting adverse events to central groups. We're not great about broadcasting that to each other in real-time. I think those are things that we really...]]>269falsefullhttps://www.spreaker.com/episode/chapter-7-changes-in-gene-therapy-programs-to-lessons-learned-from-recent-trials--69167120Julie A. Parsons, MD 
Haberfield Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine, Children's Hospital Colorado
Aurora, CO, USA

How have programs adapted to the experiences from clinical trials? I'm just looking at SMA because we've had SMA. We've had onasemnogene around for the longest period of time. We want to always confirm a diagnosis and know that the patient is right. We do antibody testing for these disorders prior to delivering the AAV therapies. We have to know that the product that is incredibly expensive is handled appropriately by the institution. Dealing with the pharmacy, making certain that you handle the agent properly, patients need to be pretreated at this point with prednisone, and that really has to happen so that you know that they're ready for treatment, that they don't have any infections prior to treatment.

Then we need to monitor and provide medication and follow-up afterwards. As I said, I think this is really, really important to make sure that you're connected well with the patient. If you live in an area as we do, that has a huge catchment area with patients that come from hundreds of miles away, sometimes they need to stay with us for a period of time, so that we can ensure the safety and follow-up of these patients after we deliver gene therapies.

Again, a recurring theme is the patients that you're treating who are not in a clinical trial are not the homogeneous, well-selected patients. It's really all actors. The population that you're treating commercially is very different. We're now moving into treating patients with larger body masses and older ages. We don't always know, because those patients haven't really been included in the clinical trials. We don't really know what some of the effects are going to be with that group of patients as well.

I am a neurologist. I am not an immunologist. I have had to learn a lot of immunology at this point, but it's still not sufficient. I think that we also need to reach out to our subspecialist colleagues who really do have more experience than we do to try to help us with some of these issues, because as we look at these viral vector capsids and the transgenes, we have to say, is there something that we can do to mitigate the immune response that we're seeing when we're giving massive doses of these agents and really taxing the immune system in our patients?

Looking at possibilities, we give steroids, and that's really what we've done. That was what was done in the early clinical trials with MENDEL. It's like, okay, prednisone, that's all we have to do is we give steroids and everybody will be fine. That really isn't maybe the answer. As we have more information, we know that we're going to start with steroids, but we're really going to look at, is there a way to block both the B-cell response, the T-cell response? Is there something that we can do so that we don't have to sit on the edge of our seats and not sleep for months after we treat these patients?

At least in a trial, was done looking at patients who were treated just with corticosteroids. Those patients had rapid increases in IgM and IgG. There's complement activation. Both the adaptive and the acute immune responses are triggered. That's really what we're doing as standard practice right now, but in the trial looking at treating patients and pretreating patients with rituximab blocking B cells and sirolimus and corticosteroids, then no significant change in IgM, IgG.

Is that something that we should be doing? I think that some of the clinical trials that are being set up are looking at instituting some of these immune-modulating features to see whether or not their outcomes are improved. Can we do anything proactively to prevent our patients from having some of these very severe events or fatalities? I think that's really what we need to be looking at now. I think we are looking at that as a community, and to me, is a story that is still unfolding in terms of how we keep our patients safe.

In the next part, Doctors Beggs and Parsons will discuss key issues on gene therapy development.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69167120Mon, 22 Dec 2025 14:22:37 +0000CheckRare EditorsJulie A. Parsons, MD  Haberfield Endowed Chair in Pediatric Neuromuscular Disorders Professor of Clinical Pediatrics and Neurology University of Colorado School of Medicine, Children's Hospital Colorado Aurora, CO, USA How have programs adapted to...Julie A. Parsons, MD 
Haberfield Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine, Children's Hospital Colorado
Aurora, CO, USA

How have programs adapted to the experiences from clinical trials? I'm just looking at SMA because we've had SMA. We've had onasemnogene around for the longest period of time. We want to always confirm a diagnosis and know that the patient is right. We do antibody testing for these disorders prior to delivering the AAV therapies. We have to know that the product that is incredibly expensive is handled appropriately by the institution. Dealing with the pharmacy, making certain that you handle the agent properly, patients need to be pretreated at this point with prednisone, and that really has to happen so that you know that they're ready for treatment, that they don't have any infections prior to treatment.

Then we need to monitor and provide medication and follow-up afterwards. As I said, I think this is really, really important to make sure that you're connected well with the patient. If you live in an area as we do, that has a huge catchment area with patients that come from hundreds of miles away, sometimes they need to stay with us for a period of time, so that we can ensure the safety and follow-up of these patients after we deliver gene therapies.

Again, a recurring theme is the patients that you're treating who are not in a clinical trial are not the homogeneous, well-selected patients. It's really all actors. The population that you're treating commercially is very different. We're now moving into treating patients with larger body masses and older ages. We don't always know, because those patients haven't really been included in the clinical trials. We don't really know what some of the effects are going to be with that group of patients as well.

I am a neurologist. I am not an immunologist. I have had to learn a lot of immunology at this point, but it's still not sufficient. I think that we also need to reach out to our subspecialist colleagues who really do have more experience than we do to try to help us with some of these issues, because as we look at these viral vector capsids and the transgenes, we have to say, is there something that we can do to mitigate the immune response that we're seeing when we're giving massive doses of these agents and really taxing the immune system in our patients?

Looking at possibilities, we give steroids, and that's really what we've done. That was what was done in the early clinical trials with MENDEL. It's like, okay, prednisone, that's all we have to do is we give steroids and everybody will be fine. That really isn't maybe the answer. As we have more information, we know that we're going to start with steroids, but we're really going to look at, is there a way to block both the B-cell response, the T-cell response? Is there something that we can do so that we don't have to sit on the edge of our seats and not sleep for months after we treat these patients?

At least in a trial, was done looking at patients who were treated just with corticosteroids. Those patients had rapid increases in IgM and IgG. There's complement activation. Both the adaptive and the acute immune responses are triggered. That's really what we're doing as standard practice right now, but in the trial looking at treating patients and pretreating patients with rituximab blocking B cells and sirolimus and corticosteroids, then no significant change in IgM, IgG.

Is that something that we should be doing? I think that some of the clinical trials that are being set up are looking at instituting some of these immune-modulating features to see whether or not their outcomes are improved. Can we do anything proactively to prevent our patients from having some of these very severe events or...]]>318falsefullhttps://www.spreaker.com/episode/chapter-6-understanding-and-preparing-risk-factors-associated-with-aav-gene-therapies--69167044Julie A. Parsons, MD
Haberfield Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine, Children's Hospital Colorado
Aurora, CO, USA

Now, with our collective experience, we can at least put together the information that we have in terms of what can we expect and what's the timeline that we expect in terms of our patients having reactions. I will tell you, and I've said this multiple times, when I deliver a gene transfer therapy, I hold my breath for 2 months. Now, maybe it's going to have to be extended to a year, but it's typically at least for 2-3 months. It's like, okay, what's going to happen? You sit on the edge of your seat on pins and needles, going, "Is this kid going to be okay or not?" I think that's the appropriate response to have in terms of the light of things that have happened over time. We have to be really careful.

We have a little bit of a framework now to say, when do we need to be really excited? We know that our patients, most all of them, are going to develop a transaminitis, and that ends up happening early on, but we get a couple of peaks. We get really excited that the 4-8 week time point with transaminitis looking for liver failure.

The cholestatic liver disease that happened in the patients with X-linked MTM happened a little bit later, so Week 2, all the way out to six months afterwards. The acute cardiomyopathy a little bit earlier, so we're looking a little bit earlier for that effect. TMA, usually the end of the first week to about 2 weeks is when we would expect that to come in. Then the transgene-related myositis and immune-mediated myocarditis, weeks, maybe 2 to a couple of months.

How do we adapt our gene transfer programs to the clinical trial experience? I think that there are a couple of points that are important. One is that the outline that I showed you, there are some disease-agnostic issues that come up with transaminitis, with TMA. I think there are some final common pathways related to the immune responses that we see with these patients. Then there are going to be some disease-specific disorders that are going to come up with each of these therapies and agents.

We need to have good communication, honestly, in real-time. I still don't know that we have a good mechanism for that as a community, but to share these adverse events that come up so that we can all learn as a collective about what to expect, what to anticipate, and how to best take care of our patients. We know now how we need to monitor patients closely from a laboratory standpoint, from a clinical exam standpoint, and we really need to work on how are we going to mitigate some of these risk issues that we have with these patients.

I think the collaborative aspect, particularly at meetings like this, is important. Last year, for the people that were at MDA, you remember that we really spent a lot of time looking at gene transfer delivery. Many of us got together as providers and actually met together to say, "Is there something that we can think about in terms of best practice or consensus in terms of how we would want to manage patients or how we'd want to share information?"

Now, actually, on the MDA website, we really do have some guidelines, and there will be a publication coming out shortly that we'll have this available to everybody again. It's not necessarily the right answer, but it's at least from a collective experience, what's the best way that we can go forward? Some of the suggestions were that the adverse events right now, we can put them into some a predictable timeline, but we don't really know all the risks at the time of dosing.

We know that gene transfer therapy can be safe for the right patient at the right time for the right disorder. That's really what we want to do. There's a Neurotherapeutic window between efficacy and toxicity. How are we adjusting that? What are we working on to make sure that we're getting that right? The preclinical data is helpful, but it's never the full story. Any time we go from a homogeneous population that we see in a clinical trial to a heterogeneous population, as we throw this out to the world, we're going to have new issues that arise, and we need to be aware and ready for those.

We want to be able to predict what happens, but we can't always do that. Then follow-up is so important. The post-marketing study, sharing adverse events, sharing experiences, I think, is really important as well. Clinicians really should be familiar with this entire field before ever delivering gene transfer therapy. I don't think that every site should be delivering gene transfer. I think that from an institutional standpoint, you need to be ready. You need to have a team who knows what they're doing and knows how to handle the issues and the problems, or you need to have lifelines set up in advance if you're going to deliver these treatments.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69167044Mon, 22 Dec 2025 14:22:31 +0000CheckRare EditorsJulie A. Parsons, MD Haberfield Endowed Chair in Pediatric Neuromuscular Disorders Professor of Clinical Pediatrics and Neurology University of Colorado School of Medicine, Children's Hospital Colorado Aurora, CO, USA Now, with our collective...Julie A. Parsons, MD
Haberfield Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine, Children's Hospital Colorado
Aurora, CO, USA

Now, with our collective experience, we can at least put together the information that we have in terms of what can we expect and what's the timeline that we expect in terms of our patients having reactions. I will tell you, and I've said this multiple times, when I deliver a gene transfer therapy, I hold my breath for 2 months. Now, maybe it's going to have to be extended to a year, but it's typically at least for 2-3 months. It's like, okay, what's going to happen? You sit on the edge of your seat on pins and needles, going, "Is this kid going to be okay or not?" I think that's the appropriate response to have in terms of the light of things that have happened over time. We have to be really careful.

We have a little bit of a framework now to say, when do we need to be really excited? We know that our patients, most all of them, are going to develop a transaminitis, and that ends up happening early on, but we get a couple of peaks. We get really excited that the 4-8 week time point with transaminitis looking for liver failure.

The cholestatic liver disease that happened in the patients with X-linked MTM happened a little bit later, so Week 2, all the way out to six months afterwards. The acute cardiomyopathy a little bit earlier, so we're looking a little bit earlier for that effect. TMA, usually the end of the first week to about 2 weeks is when we would expect that to come in. Then the transgene-related myositis and immune-mediated myocarditis, weeks, maybe 2 to a couple of months.

How do we adapt our gene transfer programs to the clinical trial experience? I think that there are a couple of points that are important. One is that the outline that I showed you, there are some disease-agnostic issues that come up with transaminitis, with TMA. I think there are some final common pathways related to the immune responses that we see with these patients. Then there are going to be some disease-specific disorders that are going to come up with each of these therapies and agents.

We need to have good communication, honestly, in real-time. I still don't know that we have a good mechanism for that as a community, but to share these adverse events that come up so that we can all learn as a collective about what to expect, what to anticipate, and how to best take care of our patients. We know now how we need to monitor patients closely from a laboratory standpoint, from a clinical exam standpoint, and we really need to work on how are we going to mitigate some of these risk issues that we have with these patients.

I think the collaborative aspect, particularly at meetings like this, is important. Last year, for the people that were at MDA, you remember that we really spent a lot of time looking at gene transfer delivery. Many of us got together as providers and actually met together to say, "Is there something that we can think about in terms of best practice or consensus in terms of how we would want to manage patients or how we'd want to share information?"

Now, actually, on the MDA website, we really do have some guidelines, and there will be a publication coming out shortly that we'll have this available to everybody again. It's not necessarily the right answer, but it's at least from a collective experience, what's the best way that we can go forward? Some of the suggestions were that the adverse events right now, we can put them into some a predictable timeline, but we don't really know all the risks at the time of dosing.

We know that gene transfer therapy can be safe for the right patient at the right time for the right disorder. That's really what we want to do. There's a Neurotherapeutic window...]]>405falsefullhttps://www.spreaker.com/episode/chapter-5-factors-impacting-safety-and-efficacy-of-aav-mediated-gene-therapies--69167015Julie A. Parsons, MD
Haberfield Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine, Children's Hospital Colorado
Aurora, CO, USA

The gene transfer trials for musculoskeletal disorders, if we look at musculoskeletal and neurologic disorders, we really do have the highest success rate in terms of treatment, but we also carry the highest incidence of treatment-emergent severe adverse events. And why is that true? Yesterday, when we were hearing about Donovan as well, we looked and said, When the first gene transfer therapies were started, he had a single muscle that was injected.

When we look at Luxturna, we injected the retina. Now, what is happening with these disorders is that we're giving these huge, massive doses of viral vector to patients. There haven't been a lot of gene transfer therapies that have reached the market. But you saw yesterday, so many gene transfer therapies being worked on, but there are very few that have actually come to market. There are a couple of reasons for that.

One is with the indications that we have, we know that the musculoskeletal disorders are most likely to achieve benefit, but there are the high risk of severe adverse events. Route of Administration, IV, for most of our disorders is the way we're going. We may end up having some Intrathecal therapies as well that are coming on board, but right now it's IV, and that means, a huge dose of this viral vector and antigenic risk that is being administered.

In the vector design now, we actually have more specific vectors as well as promoters that are being utilized to really target specific tissues, so that we're able to focus in a little bit more on the tissues that we want to have affected. And then the dose has gone from these little tiny local injections to really systemic, much broader. And now our patients, are larger. So we're giving a viral genome per kilo dose that is just massive as we look at that.

Then there really are challenges in terms of the translation of clinical trials to commercial treatment with these agents. And we don't always know, we're not always great when we do tests in clinical trials in small populations, about when that's broadened to the commercial availability and we hit larger heterogeneous populations.

There are safety issues arising from these therapies, and I think that we have some experience now, certainly with the three diseases that I mentioned at the beginning, in terms of collecting some data and information to have a little bit more of an idea what to expect. Although to me, the recurring esteem is always, expect the unexpected. Because we still are learning about this. 

Hepatotoxicity. We know that transaminitis is something that we see in almost every gene transfer therapy that has been delivered, and we have to watch really, really closely and follow our patients closely for this. We also have to select patients that we don't think have risk for additional liver injury or underlying liver pathology, because as we found out in the XLMTM boys, we missed that. Thrombotic Microangiopathy. We look at this disorder. We've had deaths in SMA from TMA. We have Duchenne patients that have had TMA.

This is scary because as many of us as clinicians who have treated patients, you know that we end up getting thrombocytopenia. So is that it this time, or are they going to be fine, or the platelet is going to go back to normal? This is another one that we have to watch really, really closely for. Cardiac Toxicity. We have had cardio myositis. We've had deaths from cardiac toxicity.

Something really, really important for us to think about. In little kids, vomiting could be a sign of cardiac myositis. And for most of us who've treated patients with gene transfer therapy, what's one of the first issues that you get?

You get nausea of vomiting, they don't feel good. So is that myocarditis or is it just a standard side effect that we're seeing with treatment? Importantly, as we discovered, there actually can be an immune response to the transgene. It's not just the viral vector capsid, it's actually the transgene as well. That was discovered in patients who were treated for Duchenne. So that's a really important thing in terms of looking now at what's our patient's selection and how do we pick the right patients.

Next part, Dr. Parsons will discuss understanding and preparing risk factors associated with AAV gene therapies.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69167015Mon, 22 Dec 2025 14:22:26 +0000CheckRare EditorsJulie A. Parsons, MD Haberfield Endowed Chair in Pediatric Neuromuscular Disorders Professor of Clinical Pediatrics and Neurology University of Colorado School of Medicine, Children's Hospital Colorado Aurora, CO, USA The gene transfer trials for...Julie A. Parsons, MD
Haberfield Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine, Children's Hospital Colorado
Aurora, CO, USA

The gene transfer trials for musculoskeletal disorders, if we look at musculoskeletal and neurologic disorders, we really do have the highest success rate in terms of treatment, but we also carry the highest incidence of treatment-emergent severe adverse events. And why is that true? Yesterday, when we were hearing about Donovan as well, we looked and said, When the first gene transfer therapies were started, he had a single muscle that was injected.

When we look at Luxturna, we injected the retina. Now, what is happening with these disorders is that we're giving these huge, massive doses of viral vector to patients. There haven't been a lot of gene transfer therapies that have reached the market. But you saw yesterday, so many gene transfer therapies being worked on, but there are very few that have actually come to market. There are a couple of reasons for that.

One is with the indications that we have, we know that the musculoskeletal disorders are most likely to achieve benefit, but there are the high risk of severe adverse events. Route of Administration, IV, for most of our disorders is the way we're going. We may end up having some Intrathecal therapies as well that are coming on board, but right now it's IV, and that means, a huge dose of this viral vector and antigenic risk that is being administered.

In the vector design now, we actually have more specific vectors as well as promoters that are being utilized to really target specific tissues, so that we're able to focus in a little bit more on the tissues that we want to have affected. And then the dose has gone from these little tiny local injections to really systemic, much broader. And now our patients, are larger. So we're giving a viral genome per kilo dose that is just massive as we look at that.

Then there really are challenges in terms of the translation of clinical trials to commercial treatment with these agents. And we don't always know, we're not always great when we do tests in clinical trials in small populations, about when that's broadened to the commercial availability and we hit larger heterogeneous populations.

There are safety issues arising from these therapies, and I think that we have some experience now, certainly with the three diseases that I mentioned at the beginning, in terms of collecting some data and information to have a little bit more of an idea what to expect. Although to me, the recurring esteem is always, expect the unexpected. Because we still are learning about this. 

Hepatotoxicity. We know that transaminitis is something that we see in almost every gene transfer therapy that has been delivered, and we have to watch really, really closely and follow our patients closely for this. We also have to select patients that we don't think have risk for additional liver injury or underlying liver pathology, because as we found out in the XLMTM boys, we missed that. Thrombotic Microangiopathy. We look at this disorder. We've had deaths in SMA from TMA. We have Duchenne patients that have had TMA.

This is scary because as many of us as clinicians who have treated patients, you know that we end up getting thrombocytopenia. So is that it this time, or are they going to be fine, or the platelet is going to go back to normal? This is another one that we have to watch really, really closely for. Cardiac Toxicity. We have had cardio myositis. We've had deaths from cardiac toxicity.

Something really, really important for us to think about. In little kids, vomiting could be a sign of cardiac myositis. And for most of us who've treated patients with gene transfer therapy, what's one of the first issues...]]>354falsefullhttps://www.spreaker.com/episode/ch-4-clinical-safety-and-efficacy-observed-in-aav-mediated-gene-therapy-programs-in-dmd-sma-xlmtm--69167006Julie A. Parsons, MD 
Haberfield Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine, Children's Hospital Colorado
Aurora, CO, USA

As we talk about the gene transfer therapies and the modalities that we have to use, it's really interesting. Yesterday, with our keynote speaker, you could see this logarithmic growth of the use of gene transfer therapies for these disorders. If you look at the Venn diagram, you can see that really 27% almost of gene transfer therapies that are used are in musculoskeletal and neurology. For many of us as neurologists, we also take care of metabolic disorders.

We really own right now this landscape, and of course, our two approved modalities are Onasemnogene and Delandistrogene. We're going to look at three different disorders, monogenic disorders, monogenic diseases, to typify what we look at in terms of some of the risks and benefits of these treatments. SMA, Duchenne, and X-linked myotubular myopathy are all rare disorders. They're all diseases that have a high unmet medical need and a significant disease burden.

I think they're all good in terms of typifying where we are clinically with these disorders. The first question is, is it worth it? Are these effective treatments? We know from looking at the information about SMA that just looking early on, we know that if we treat kids early, that we do see a marked improvement in motor scores for kids that are treated early with Onasemnogene.

In Duchenne, we have information that there is at least some improvement in the 4-5-year-olds in terms of motor skills treated with Delandistrogene. In terms of X-linked MTM, which was a very dramatic improvement, you could see that for boys who were basically traked, vented, and had no mobility, the bottom line, the blue line, is actually looking at ventilator dependence. Are they effective? Yeah, they're effective, but then we have to say, okay, what's the downside?

The downside is that there's tremendous risk associated with treatment with these agents. If we really look at the sobering facts, we know that with SMA, there have been deaths, there have been fatalities related to thrombotic microangiopathy to patients who have liver failure, a couple of patients have died. With Onasemnogene, this is 4,000 plus doses that have so far been given. With Duchenne, unfortunately, many of us got the letter yesterday talking about an additional death in a patient treated with commercial Delandistrogene.

We also know with some of the other agents, like fordadistrogene, patient died of heart failure, cardiac arrest, another patient who had acute respiratory syndrome with pulmonary edema. Again, we look at this and say this is significant. With X-linked MTM, as Alan said, there were some unanticipated deaths, four deaths from patients who ended up having cholestatic liver diseases that really wasn't anticipated prior to the patients being treated with the animal models and all that we had. Then many of you have heard about the patient with Rett syndrome who had a systemic hyperinflammatory syndrome. Again, these are rare disorders. They have a high disease burden, but the risk of treatment is significant.

In the next part, Dr. Parsons discuss factors impacting safety and efficacy of AAV-mediated gene therapies.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69167006Mon, 22 Dec 2025 14:22:19 +0000CheckRare EditorsJulie A. Parsons, MD  Haberfield Endowed Chair in Pediatric Neuromuscular Disorders Professor of Clinical Pediatrics and Neurology University of Colorado School of Medicine, Children's Hospital Colorado Aurora, CO, USA As we talk about the gene...Julie A. Parsons, MD 
Haberfield Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine, Children's Hospital Colorado
Aurora, CO, USA

As we talk about the gene transfer therapies and the modalities that we have to use, it's really interesting. Yesterday, with our keynote speaker, you could see this logarithmic growth of the use of gene transfer therapies for these disorders. If you look at the Venn diagram, you can see that really 27% almost of gene transfer therapies that are used are in musculoskeletal and neurology. For many of us as neurologists, we also take care of metabolic disorders.

We really own right now this landscape, and of course, our two approved modalities are Onasemnogene and Delandistrogene. We're going to look at three different disorders, monogenic disorders, monogenic diseases, to typify what we look at in terms of some of the risks and benefits of these treatments. SMA, Duchenne, and X-linked myotubular myopathy are all rare disorders. They're all diseases that have a high unmet medical need and a significant disease burden.

I think they're all good in terms of typifying where we are clinically with these disorders. The first question is, is it worth it? Are these effective treatments? We know from looking at the information about SMA that just looking early on, we know that if we treat kids early, that we do see a marked improvement in motor scores for kids that are treated early with Onasemnogene.

In Duchenne, we have information that there is at least some improvement in the 4-5-year-olds in terms of motor skills treated with Delandistrogene. In terms of X-linked MTM, which was a very dramatic improvement, you could see that for boys who were basically traked, vented, and had no mobility, the bottom line, the blue line, is actually looking at ventilator dependence. Are they effective? Yeah, they're effective, but then we have to say, okay, what's the downside?

The downside is that there's tremendous risk associated with treatment with these agents. If we really look at the sobering facts, we know that with SMA, there have been deaths, there have been fatalities related to thrombotic microangiopathy to patients who have liver failure, a couple of patients have died. With Onasemnogene, this is 4,000 plus doses that have so far been given. With Duchenne, unfortunately, many of us got the letter yesterday talking about an additional death in a patient treated with commercial Delandistrogene.

We also know with some of the other agents, like fordadistrogene, patient died of heart failure, cardiac arrest, another patient who had acute respiratory syndrome with pulmonary edema. Again, we look at this and say this is significant. With X-linked MTM, as Alan said, there were some unanticipated deaths, four deaths from patients who ended up having cholestatic liver diseases that really wasn't anticipated prior to the patients being treated with the animal models and all that we had. Then many of you have heard about the patient with Rett syndrome who had a systemic hyperinflammatory syndrome. Again, these are rare disorders. They have a high disease burden, but the risk of treatment is significant.

In the next part, Dr. Parsons discuss factors impacting safety and efficacy of AAV-mediated gene therapies.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the...]]>291falsefullhttps://www.spreaker.com/episode/ch-3-mitigation-strategies-to-address-the-challenges-in-the-development-of-gene-therapy-programs--69166992Alan Beggs, PhD
Director of the Manton Center for Orphan Disease Research
Sir Edwin and Lady Manton Professor of Pediatrics, Boston Children's Hospital
Harvard Medical School, Boston, MA, USA

The challenges that you've heard about are real. Some of them I think we could have foreseen others. There was no way to know until we actually started treating patients in clinic. But we now know that there are immune responses and also responses just to the viral load. As Julie mentioned, we're giving massive doses to these patients on the order of one times ten to the 14 viral genomes per kilogram.

Think about the fact that when these capsids are manufactured, there's a certain percentage of empty capsid. The amount of protein that's being delivered to these patients can be massive. One of the approaches to mitigate some of the risk would be to lower the dose. While early studies demonstrated that in order to get adequate delivery to skeletal muscle, you need to give these very large doses. But what if we could engineer a viral capsid that would be potent at lower doses?

There has been quite a bit of research in this area that's ongoing, and some new next generation vectors that are just starting to enter the clinic. In particular, there are a class of Myotropic viral vectors or capsids so-called RGD vectors. RGD refers to arginine, glycine, and aspartic acid, which are three residues which, when present at a particular point in the viral capsid proteins interact with integrin receptors that are specific for skeletal muscle. These viral capsids home to skeletal muscle and can deliver their genetic payload at much lower doses. There was one group of these developed in Germany by Theo Grimm's lab.

These were the so-called AAV Myos, and simultaneously in Boston at the Broad Institute, a group of capsids was developed that were called Myo AAV. These were both based off of an AAV nine backbone. It's basically an AAV nine legacy vector with these three amino acids changed. Now Solid Biosciences also has their own independently derived vector that I believe is also an RGD vector. These vectors give us the potential then for more efficient and specific delivery to muscle cells.

They may or may not target the liver depending on the particular virus. Some of them the risk to the liver is mitigated by delivering a lower dose. You can also develop these vectors in a way that will be liver targeted, that specifically less of it gets delivered to the vectors. These would be really, in my mind potentially third generation vectors.

Strategies, there are a number of strategies. You heard about the immunomodulation regimens. I just talked about optimizing vector design. Also, Doctor Parsons mentioned earlier the fact that where you deliver so zolgensma is delivered Intrathecally. We get it to the place we need it, and we're less likely to have off target effects through other tissues.

Then improved manufacturing is very important. I mentioned the fact that every viral preparation contains empty capsids. There are ways to minimize the production of empty capsids, and also effective ways to filter out and remove those empty capsids. This is actually a very important aspect that is being developed further by the CMO community. Then in summary, I think it's important to take a holistic approach when we're thinking about the development of AAV based gene therapies for neuromuscular disease.

It starts from the fact that for any given disease we're interested in, we need to define the genetic etiology. Since these are gene directed therapies. We need to pay careful attention to the preclinical animal models. How accurately do they really reflect the human condition? Or are there potentially responses in our human patients that we haven't experienced in the animals? It's important to understand the natural history and the patient population.

Recognize that there's extensive heterogeneity, not just in age and severity, but also potentially in underlying susceptibilities in our patients. We have a group of toxicities that we know about and can anticipate. But as Julie was saying, you need to be really careful and think about any potential unexpected SAEs. And then finally I mentioned the manufacturing aspect, the development of newer vectors and quality control aspects that go into making a safe and effective therapeutic.

In the next part. Doctor Parsons will discuss clinical safety and efficacy observed in AAV mediated gene therapy programs in DMD, SMA, and XLMTM.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69166992Mon, 22 Dec 2025 14:21:18 +0000CheckRare EditorsAlan Beggs, PhD Director of the Manton Center for Orphan Disease Research Sir Edwin and Lady Manton Professor of Pediatrics, Boston Children's Hospital Harvard Medical School, Boston, MA, USA The challenges that you've heard about are real. Some of...Alan Beggs, PhD
Director of the Manton Center for Orphan Disease Research
Sir Edwin and Lady Manton Professor of Pediatrics, Boston Children's Hospital
Harvard Medical School, Boston, MA, USA

The challenges that you've heard about are real. Some of them I think we could have foreseen others. There was no way to know until we actually started treating patients in clinic. But we now know that there are immune responses and also responses just to the viral load. As Julie mentioned, we're giving massive doses to these patients on the order of one times ten to the 14 viral genomes per kilogram.

Think about the fact that when these capsids are manufactured, there's a certain percentage of empty capsid. The amount of protein that's being delivered to these patients can be massive. One of the approaches to mitigate some of the risk would be to lower the dose. While early studies demonstrated that in order to get adequate delivery to skeletal muscle, you need to give these very large doses. But what if we could engineer a viral capsid that would be potent at lower doses?

There has been quite a bit of research in this area that's ongoing, and some new next generation vectors that are just starting to enter the clinic. In particular, there are a class of Myotropic viral vectors or capsids so-called RGD vectors. RGD refers to arginine, glycine, and aspartic acid, which are three residues which, when present at a particular point in the viral capsid proteins interact with integrin receptors that are specific for skeletal muscle. These viral capsids home to skeletal muscle and can deliver their genetic payload at much lower doses. There was one group of these developed in Germany by Theo Grimm's lab.

These were the so-called AAV Myos, and simultaneously in Boston at the Broad Institute, a group of capsids was developed that were called Myo AAV. These were both based off of an AAV nine backbone. It's basically an AAV nine legacy vector with these three amino acids changed. Now Solid Biosciences also has their own independently derived vector that I believe is also an RGD vector. These vectors give us the potential then for more efficient and specific delivery to muscle cells.

They may or may not target the liver depending on the particular virus. Some of them the risk to the liver is mitigated by delivering a lower dose. You can also develop these vectors in a way that will be liver targeted, that specifically less of it gets delivered to the vectors. These would be really, in my mind potentially third generation vectors.

Strategies, there are a number of strategies. You heard about the immunomodulation regimens. I just talked about optimizing vector design. Also, Doctor Parsons mentioned earlier the fact that where you deliver so zolgensma is delivered Intrathecally. We get it to the place we need it, and we're less likely to have off target effects through other tissues.

Then improved manufacturing is very important. I mentioned the fact that every viral preparation contains empty capsids. There are ways to minimize the production of empty capsids, and also effective ways to filter out and remove those empty capsids. This is actually a very important aspect that is being developed further by the CMO community. Then in summary, I think it's important to take a holistic approach when we're thinking about the development of AAV based gene therapies for neuromuscular disease.

It starts from the fact that for any given disease we're interested in, we need to define the genetic etiology. Since these are gene directed therapies. We need to pay careful attention to the preclinical animal models. How accurately do they really reflect the human condition? Or are there potentially responses in our human patients that we haven't experienced in the animals? It's important to understand the natural history and the patient population.340falsefullhttps://www.spreaker.com/episode/chapter-2-aav-mediated-gene-therapies--69166962Alan Beggs, PhD
Director of the Manton Center for Orphan Disease Research
Sir Edwin and Lady Manton Professor of Pediatrics, Boston Children's Hospital
Harvard Medical School, Boston, MA, USA
 
Julie A. Parsons, MD
Haberfield Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine, Children's Hospital Colorado
Aurora, CO, USA

Doctors Beggs and Parsons discuss the current status of gene therapies in rare neuromuscular disorders in this eight part podcast series. This is derived from the symposium that was presented at the MDA 2025 conference in Dallas, Texas, in March 2025 and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established. In contents of this podcast, shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The ASPIRO clinical trial is on clinical hold since September 2021.

In this part, Doctor Beggs will provide an explanation of AAV-mediated gene therapies.

Alan Beggs, PhD
AAV vectors, which I'm going to be talking about more today, or Adeno associated viral vectors are small viruses. Their DNA gets delivered into the cell and remains extrachromosomal. There are very rare occasional integrations, but the risk of oncogenesis as a result is significantly lower as a consequence of remaining extrachromosomal, though, we do have to think about what happens as the cells divide and potentially the durability of treatment is more limited.

There have been a lot of movement and development over the years, starting back in the 1980s when the first AAV genomes were isolated and sequenced. This led to a development of methods to produce recombinant AAVs that would lack the genes necessary for viral replication, but contain a therapeutic gene you wish to deliver. Through this, the structure of AAVs have been developed. There have been isolation of a number of naturally occurring variants. You've heard of AAV8, AAV9, also RH 74, derived from a rhesus monkey for the RH. These have all been used in clinical trials. Then at the end I'll talk a little bit about directed evolution methods to actually engineer capsids with particular properties that are beneficial.

Throughout this we've identified some of the issues that arise in this. It was initially thought that AAV vectors were non-immunogenic, but in fact there are immune responses not just to the viral payload to the therapeutic protein, but also to the viral vectors, and you're going to hear about that from Doctor Parsons. Over time, as we've come to understand these challenges, we've also been developing approaches to mitigate them. In terms of clinical trials and treatments, the very first studies were done back in the 1970s.

By the early 2000, the very first clinical therapeutic was approved in China. It was actually an oncolytic virus carrying a p53 gene to treat head and neck cancers. By now there are over 40 approved treatments for various types of AAV delivered gene therapies. Of course, the ones we know a lot about are Zolgensma, which was approved in 2019, and Elevidys, which was approved last year. A number of challenges and then also a number of approaches to overcome those challenges. First of all, the preclinical data are not always sufficient to predict the response of a human patient.

For example, in X-linked myotubular myopathy we had mouse and dog models that exhibited a myopathy but nothing else, and yet when we treated human patients, we discovered that patients with X-linked myotubular myopathy actually had a previously only poorly recognized hepatopathology that led to potential liver consequences following gene therapy. The animal models don't always predict the clinical outcome in humans.

Also, we have small disease populations. These are rare diseases. It's important to understand the natural history of these diseases, understand the heterogeneity among the clinical population. It's very important to engage with families and with patients and communities, understand who might be at increased risk to treatment with one of these. This feeds into safety considerations. We need to think also about some of the immune responses. I think we're starting to learn, for example, with the gene therapies for Duchenne, and we know this from SMA that some patients get into trouble and others don't. We need to understand why that may be, and we don't know about the long term effects. This has been very recent.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69166962Mon, 22 Dec 2025 14:21:12 +0000CheckRare EditorsAlan Beggs, PhD Director of the Manton Center for Orphan Disease Research Sir Edwin and Lady Manton Professor of Pediatrics, Boston Children's Hospital Harvard Medical School, Boston, MA, USA   Julie A. Parsons, MD Haberfield Endowed Chair in...Alan Beggs, PhD
Director of the Manton Center for Orphan Disease Research
Sir Edwin and Lady Manton Professor of Pediatrics, Boston Children's Hospital
Harvard Medical School, Boston, MA, USA
 
Julie A. Parsons, MD
Haberfield Endowed Chair in Pediatric Neuromuscular Disorders
Professor of Clinical Pediatrics and Neurology
University of Colorado School of Medicine, Children's Hospital Colorado
Aurora, CO, USA

Doctors Beggs and Parsons discuss the current status of gene therapies in rare neuromuscular disorders in this eight part podcast series. This is derived from the symposium that was presented at the MDA 2025 conference in Dallas, Texas, in March 2025 and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established. In contents of this podcast, shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The ASPIRO clinical trial is on clinical hold since September 2021.

In this part, Doctor Beggs will provide an explanation of AAV-mediated gene therapies.

Alan Beggs, PhD
AAV vectors, which I'm going to be talking about more today, or Adeno associated viral vectors are small viruses. Their DNA gets delivered into the cell and remains extrachromosomal. There are very rare occasional integrations, but the risk of oncogenesis as a result is significantly lower as a consequence of remaining extrachromosomal, though, we do have to think about what happens as the cells divide and potentially the durability of treatment is more limited.

There have been a lot of movement and development over the years, starting back in the 1980s when the first AAV genomes were isolated and sequenced. This led to a development of methods to produce recombinant AAVs that would lack the genes necessary for viral replication, but contain a therapeutic gene you wish to deliver. Through this, the structure of AAVs have been developed. There have been isolation of a number of naturally occurring variants. You've heard of AAV8, AAV9, also RH 74, derived from a rhesus monkey for the RH. These have all been used in clinical trials. Then at the end I'll talk a little bit about directed evolution methods to actually engineer capsids with particular properties that are beneficial.

Throughout this we've identified some of the issues that arise in this. It was initially thought that AAV vectors were non-immunogenic, but in fact there are immune responses not just to the viral payload to the therapeutic protein, but also to the viral vectors, and you're going to hear about that from Doctor Parsons. Over time, as we've come to understand these challenges, we've also been developing approaches to mitigate them. In terms of clinical trials and treatments, the very first studies were done back in the 1970s.

By the early 2000, the very first clinical therapeutic was approved in China. It was actually an oncolytic virus carrying a p53 gene to treat head and neck cancers. By now there are over 40 approved treatments for various types of AAV delivered gene therapies. Of course, the ones we know a lot about are Zolgensma, which was approved in 2019, and Elevidys, which was approved last year. A number of challenges and then also a number of approaches to overcome those challenges. First of all, the preclinical data are not always sufficient to predict the response of a human patient.

For example, in X-linked myotubular myopathy we had mouse and dog models that exhibited a myopathy but nothing else, and yet when we treated human patients, we discovered that patients with X-linked myotubular myopathy actually had a previously only poorly recognized...]]>307falsefullhttps://www.spreaker.com/episode/chapter-1-introduction-to-gene-directed-therapies--69166584This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established in contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The ASPIRO clinical trial is on clinical hold since September 2021. In this part, Dr. Beggs will provide an introduction to gene-directed therapies.

Alan Beggs, PhD
I'm going to talk now about challenges, a little bit of background in the history and the development of AAV-mediated gene therapies, in particular for neuromuscular disorders. There are a lot of aspects about neuromuscular disease that make it a good group of conditions to target by gene replacement therapies. These are traditionally single gene disorders with known identified oftentimes protein deficiencies, so null mutations leading to lack of a protein.

The primary tissue, the therapeutic target is a skeletal muscle, and so we can target that with the appropriate viral vectors. There's a major unmet medical need and substantial clinical burden for these conditions. As rare diseases, they place a very substantial burden on both health systems and patients, both economically and in terms of personal difficulties.

I like to think about gene therapy, which is generically used for one category of this, to really think about gene-directed therapy. So this would be any therapy directed at the nucleic acids that are either encoding our DNA or are encoding the messenger RNA transcripts. So one approach to a gene-directed therapy can be directed at the RNA level. I think you're all familiar with the Exon-skipping approaches that target mRNA splicing.

There are other methods for either knocking down toxic gain of function messenger RNAs, and there are methods now being developed to edit messenger RNAs. So this represents one class of gene therapy. You can also approach gene therapy at level of DNA by editing or changing the DNA in situ. So various CRISPR-Cas9-based approaches. There's now prime editing and other approaches for genetic engineering that target specific locations, often using bacteria endonucleasis that target with oligenucleotides that target specific sites.

And then finally, there's gene replacement therapy, which is what we're going to spend most of our time on today, which really aims to not take away what's there and replace it, but to replace the missing protein product by providing a copy of the healthy or the complete wild type gene. Often, it can either be integrated into the chromosomes or remain extrachromosomal.

So whether or not that happens really depends on the type of vector or approach you use. You can see here a number of different approaches for transferring in a therapeutic gene. The two most commonly used in clinical trials are lentivirus and AAV, and they have different strengths and weaknesses. Lentiviruses are used frequently for hematologic diseases.

Lentivirus is a member of the retrovirus family and has the characteristic that it actually integrates into the DNA. So lentiviral treatments tend to be long-acting. However, they also suffer from the risk that by integrating into the DNA, you might have site-directed mutagenesis. And there have been known instances of cancers that arose through integration at the wrong site.

In the next part, Dr. Beggs will cover the history and challenges in the development of AAV-mediated gene therapies.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69166584Mon, 22 Dec 2025 14:21:04 +0000CheckRare EditorsDrs. Beggs and Parsons discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at the MDA 2025 conference in Dallas, Texas, in March 2025,...This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established in contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The ASPIRO clinical trial is on clinical hold since September 2021. In this part, Dr. Beggs will provide an introduction to gene-directed therapies.

Alan Beggs, PhD
I'm going to talk now about challenges, a little bit of background in the history and the development of AAV-mediated gene therapies, in particular for neuromuscular disorders. There are a lot of aspects about neuromuscular disease that make it a good group of conditions to target by gene replacement therapies. These are traditionally single gene disorders with known identified oftentimes protein deficiencies, so null mutations leading to lack of a protein.

The primary tissue, the therapeutic target is a skeletal muscle, and so we can target that with the appropriate viral vectors. There's a major unmet medical need and substantial clinical burden for these conditions. As rare diseases, they place a very substantial burden on both health systems and patients, both economically and in terms of personal difficulties.

I like to think about gene therapy, which is generically used for one category of this, to really think about gene-directed therapy. So this would be any therapy directed at the nucleic acids that are either encoding our DNA or are encoding the messenger RNA transcripts. So one approach to a gene-directed therapy can be directed at the RNA level. I think you're all familiar with the Exon-skipping approaches that target mRNA splicing.

There are other methods for either knocking down toxic gain of function messenger RNAs, and there are methods now being developed to edit messenger RNAs. So this represents one class of gene therapy. You can also approach gene therapy at level of DNA by editing or changing the DNA in situ. So various CRISPR-Cas9-based approaches. There's now prime editing and other approaches for genetic engineering that target specific locations, often using bacteria endonucleasis that target with oligenucleotides that target specific sites.

And then finally, there's gene replacement therapy, which is what we're going to spend most of our time on today, which really aims to not take away what's there and replace it, but to replace the missing protein product by providing a copy of the healthy or the complete wild type gene. Often, it can either be integrated into the chromosomes or remain extrachromosomal.

So whether or not that happens really depends on the type of vector or approach you use. You can see here a number of different approaches for transferring in a therapeutic gene. The two most commonly used in clinical trials are lentivirus and AAV, and they have different strengths and weaknesses. Lentiviruses are used frequently for hematologic diseases.

Lentivirus is a member of the retrovirus family and has the characteristic that it actually integrates into the DNA. So lentiviral treatments tend to be long-acting. However, they also suffer from the risk that by integrating into the DNA, you might have site-directed mutagenesis. And there have been known instances of cancers that arose through integration at the wrong site.

In the next part, Dr. Beggs will cover the history and challenges in the development of AAV-mediated gene therapies.


Rare...]]>260falsefullhttps://www.spreaker.com/episode/chapter-8-gene-therapy-discussion-and-q-a--69155826
Drs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025, and is intended for healthcare professionals only.

This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas.

In this part, Doctors Roberts and Longo will discuss treatment with gene therapies.

Question: Can one administer AAV-mediated gene therapy repeatedly?
Mark Roberts, MD
I think the traditional view would have been no. One can think of gene therapy as a silver bullet. Hopefully, it will reach its target. But if it's not effective, that bullet has been shot, the immunological response has occurred, and it means redosing, at least with that particular vector, may become difficult. But this situation is changing and evolving as we have better understanding of immunological modulation for repeat testing. We were discussing this yesterday evening, weren't we, Professor Longo?

Nicola Longo MD, PhD
Correct. Basically, the current AAV-based gene therapy cannot be readministered. It is either effective, or it doesn't work. The other thing is that even though in theory, one could utilize a different AAV vector with different immunogenicity, there is many times cross-reactivity among the different adenovirus, adeno-associated viruses. Now, there are approaches in animal models in which you give a strong immune suppression to prevent the creation of the immune response against the adeno-associated virus, and at least in the animal model, it has been possible to give some of the gene therapy repeatedly.

The second approach that is being tested is with gene correction therapy, in which by using an RNA guide and the CRISPR/Cas9 system delivered by lipid nanoparticles, you basically correct some of the effective genetic information. Obviously, since this is done by lipid nanoparticles and not by an AAV, the immunity that you create is really not there. You can give this one repeatedly, and in theory, it can be given more than one time. But again, you are absolutely correct. The current gene therapy cannot be given twice, and either it works or it doesn't work.

Question:vWill gene-therapy-treated patients be able to go back to the standard of care or enzyme replacement therapy?
Mark Roberts, MD
I think when we're talking to patients about the potential benefits of gene therapy and the amelioration of the requirement to have these infusions on a regular basis of ERT, the hope is that will work, but they need to be reassured that we can potentially go back to the ERT. Gene therapy is an important treatment, but we don't know the destination of the patient at the beginning, and we have to make it available to them to go back to ERT.

One of the crucial questions, of course, though, is the basis of the immunological reaction that perhaps prevented the gene therapy being effective. If it's against the viral vector, well, okay. If it's against the transgene, not great. If it's against the functional protein, that becomes more difficult. It is somewhat, I think at this time, to be fair to say to patients, think of gene therapy as a trial treatment. It is somewhat a leap of faith and an important observation, of course, for the patient community, but just be aware there may be downsides.

Nicola Longo MD, PhD
They totally agree with Dr. Roberts. In general, they should be able to go back to enzyme replacement therapy if the gene therapy is not effective. However, what we are starting to appreciate is that we need to understand the immune response, not just to the enzyme replacement therapy, but also to gene therapy. What this field is doing is forcing geneticists to deal with the immune response. I feel that historically has not been dealt together. The two things need to be integrated. The advantage of the gene therapy is that the protein is produced endogenously. There should be the development of some degree of tolerance with time in the body towards the endogenous continuous production of a protein.

Now, will that happen all the time? I still do not know. Again, we need to understand much better what is the integration of the immune system with the response to gene therapy in the ongoing clinical trials.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69155826Sun, 21 Dec 2025 11:50:12 +0000CheckRare EditorsNicola Longo MD, PhD, and Mark Roberts, MD Drs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World...
Drs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025, and is intended for healthcare professionals only.

This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas.

In this part, Doctors Roberts and Longo will discuss treatment with gene therapies.

Question: Can one administer AAV-mediated gene therapy repeatedly?
Mark Roberts, MD
I think the traditional view would have been no. One can think of gene therapy as a silver bullet. Hopefully, it will reach its target. But if it's not effective, that bullet has been shot, the immunological response has occurred, and it means redosing, at least with that particular vector, may become difficult. But this situation is changing and evolving as we have better understanding of immunological modulation for repeat testing. We were discussing this yesterday evening, weren't we, Professor Longo?

Nicola Longo MD, PhD
Correct. Basically, the current AAV-based gene therapy cannot be readministered. It is either effective, or it doesn't work. The other thing is that even though in theory, one could utilize a different AAV vector with different immunogenicity, there is many times cross-reactivity among the different adenovirus, adeno-associated viruses. Now, there are approaches in animal models in which you give a strong immune suppression to prevent the creation of the immune response against the adeno-associated virus, and at least in the animal model, it has been possible to give some of the gene therapy repeatedly.

The second approach that is being tested is with gene correction therapy, in which by using an RNA guide and the CRISPR/Cas9 system delivered by lipid nanoparticles, you basically correct some of the effective genetic information. Obviously, since this is done by lipid nanoparticles and not by an AAV, the immunity that you create is really not there. You can give this one repeatedly, and in theory, it can be given more than one time. But again, you are absolutely correct. The current gene therapy cannot be given twice, and either it works or it doesn't work.

Question:vWill gene-therapy-treated patients be able to go back to the standard of care or enzyme replacement therapy?
Mark Roberts, MD
I think when we're talking to patients about the potential benefits of gene therapy and the amelioration of the requirement to have these infusions on a regular basis of ERT, the hope is that will work, but they need to be reassured that we can potentially go back to the ERT. Gene therapy is an important treatment, but we don't know the destination of the patient at the beginning, and we have to make it available to them to go back to ERT.

One of the crucial questions, of course, though, is the basis of the immunological reaction that perhaps prevented the gene therapy being effective. If it's against the viral vector, well, okay. If it's against the transgene, not great. If it's against the functional protein, that becomes more difficult. It is somewhat, I think at this time, to be fair to say to patients, think of gene therapy as a trial treatment. It is...]]>628falsefullhttps://www.spreaker.com/episode/chapter-7-ongoing-gene-therapies-in-lysosomal-disorders--69155817Professor and Vice Chair of Human Genetics,
Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,
Division of Clinical Genetics, Department of Human Genetics,
University of California at Los Angeles (UCLA), Los Angeles, CA, USA

Mark Roberts, MD
Professor and Consultant Neurologist,
University of Manchester, Manchester, UK
Research Lead for Adult Metabolic Medicine at 
Salford Care Organisation, Manchester, UK

Drs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025, and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Longo will discuss ongoing gene therapies in lysosomal disorders.

Nicola Longo MD, PhD
I'm going to present to discuss some example of ongoing gene therapy for lysosomal disorder. There are gene therapy in development for both Fabry disease and some of this involve ex vivo gene therapy, many others involve systemic administration with an AAV, Gaucher disease type 1 that affect the periphery, and Gaucher disease type 2, where the replacement should occur within the central nervous system because this condition affects the brain. There is already one approved gene therapy for lysosomal disorder, which is for the early onset metachromatic leukodystrophy. This has been approved both in Europe and now even in the United States, which consists of ex vivo gene therapy with the administration of an extra gene that restore the function of the defective enzyme. Now there are many others that are ongoing for the same indication. There are gene therapy programs for GM1 and GM2 gangliosidosis, and at least one for Krabbe disease. It is important to know that some of these condition are actually included in the recommended uniform screening panel. Basically, we would have access to patients in a timely manner for some of these conditions. Then there are several gene therapy under development for the mucopolysaccharidoses, including MPS-IH, MPS-II, MPS-IIIA and MPS-IV.

There are different type of lysosomal disorders, the one caused by mutation, integral membrane protein, not enzyme within the lysosome, but protein that are present on the membrane of the lysosome. This gene therapy that have been tested, it is for cystinosis, that it is caused by a defective lysosomal and for Danon disease, which is caused by a deficiency of an integral membrane part. Finally, one lysosomal disorder, which obviously seems a metabolic condition, but it is really not, is glycogen storage disease type 2 or Pompe disease, in which there is the intralysosomal accumulation of glycogen. There are several ongoing clinical trials to try to correct the problem in this condition.
Now, I'm going to discuss some of the most advanced program in the lysosomal storage disorder. This include one for Fabry, which is on an accelerated approval pathway with phase 1 and 2 data, one for Gaucher disease type 1. Obviously, I'm going to discuss the one that has been already approved for metachromatic leukodystrophy. There is one for Hunter syndrome, and the difference of the one for Hunter syndrome, it is an example of the direct administration of gene therapy within the central nervous system.

Finally, there is one ongoing for glycogen storage disease type 2 or Pompe disease in adult patients. In gene therapy for metachromatic leukodystrophy, it was the first gene therapy approved for lysosomal disorder in human, and this requires harvesting the CD34 cell from affected patient and then introducing the [inaudible 00:04:32] gene back in this cell, and then placing them back inside the patient again. This has been very effective in patients who were treated early, and obviously, the treatment needs to occur before there is irreversible brain damage in this patient.

In the next part, Dr. Roberts and Longo will discuss treatment with gene therapies.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69155817Sun, 21 Dec 2025 11:46:04 +0000CheckRare EditorsNicola Longo MD, PhD Professor and Vice Chair of Human Genetics, Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine, Division of Clinical Genetics, Department of Human Genetics, University of California at Los Angeles (UCLA), Los...Professor and Vice Chair of Human Genetics,
Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,
Division of Clinical Genetics, Department of Human Genetics,
University of California at Los Angeles (UCLA), Los Angeles, CA, USA

Mark Roberts, MD
Professor and Consultant Neurologist,
University of Manchester, Manchester, UK
Research Lead for Adult Metabolic Medicine at 
Salford Care Organisation, Manchester, UK

Drs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025, and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Longo will discuss ongoing gene therapies in lysosomal disorders.

Nicola Longo MD, PhD
I'm going to present to discuss some example of ongoing gene therapy for lysosomal disorder. There are gene therapy in development for both Fabry disease and some of this involve ex vivo gene therapy, many others involve systemic administration with an AAV, Gaucher disease type 1 that affect the periphery, and Gaucher disease type 2, where the replacement should occur within the central nervous system because this condition affects the brain. There is already one approved gene therapy for lysosomal disorder, which is for the early onset metachromatic leukodystrophy. This has been approved both in Europe and now even in the United States, which consists of ex vivo gene therapy with the administration of an extra gene that restore the function of the defective enzyme. Now there are many others that are ongoing for the same indication. There are gene therapy programs for GM1 and GM2 gangliosidosis, and at least one for Krabbe disease. It is important to know that some of these condition are actually included in the recommended uniform screening panel. Basically, we would have access to patients in a timely manner for some of these conditions. Then there are several gene therapy under development for the mucopolysaccharidoses, including MPS-IH, MPS-II, MPS-IIIA and MPS-IV.

There are different type of lysosomal disorders, the one caused by mutation, integral membrane protein, not enzyme within the lysosome, but protein that are present on the membrane of the lysosome. This gene therapy that have been tested, it is for cystinosis, that it is caused by a defective lysosomal and for Danon disease, which is caused by a deficiency of an integral membrane part. Finally, one lysosomal disorder, which obviously seems a metabolic condition, but it is really not, is glycogen storage disease type 2 or Pompe disease, in which there is the intralysosomal accumulation of glycogen. There are several ongoing clinical trials to try to correct the problem in this condition.
Now, I'm going to discuss some of the most advanced program in the lysosomal storage disorder. This include one for Fabry, which is on an accelerated approval pathway with phase 1 and 2 data, one for Gaucher disease type 1. Obviously, I'm going to discuss the one that has been already approved for metachromatic leukodystrophy. There is one for Hunter syndrome, and the difference of the one for Hunter syndrome,...]]>519falsefullhttps://www.spreaker.com/episode/chapter-6-gene-replacement-therapy-in-lysosomal-disorders--69155790Professor and Vice Chair of Human Genetics,
Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,
Division of Clinical Genetics, Department of Human Genetics,
University of California at Los Angeles (UCLA), Los Angeles, CA, USA

Mark Roberts, MD
Professor and Consultant Neurologist,
University of Manchester, Manchester, UK
Research Lead for Adult Metabolic Medicine at 
Salford Care Organisation, Manchester, UK

Drs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight part podcast series. This is derived from the symposium that was presented at World Symposium 2025, in San Diego, California, on February 4th through 7th, 2025, and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established, and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. 

In this part, Dr. Longo will discuss gene replacement therapy in lysosomal disorders.

Nicola Longo MD, PhD
Let's go back a second to gene therapy. Gene therapy obviously has the potential of answering many of the questions that we still have open in lysosomal disorder because they could restore the activity of the lysosome pretty much in the whole body, or at least in multiple tissues. As you have seen, gene therapy can be done ex vivo where we take cells from the affected patient, we correct the gene, or we put an extra gene that it is functional. Then we put them back by doing a bone marrow transplant, basically creating space for the cells that have been genetically modified to correct the lysosomal defect. The biggest approach this is done usually by lentiviruses that they integrate inside the genome.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69155790Sun, 21 Dec 2025 11:41:50 +0000CheckRare EditorsNicola Longo MD, PhD Professor and Vice Chair of Human Genetics, Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine, Division of Clinical Genetics, Department of Human Genetics, University of California at Los Angeles (UCLA), Los...Professor and Vice Chair of Human Genetics,
Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,
Division of Clinical Genetics, Department of Human Genetics,
University of California at Los Angeles (UCLA), Los Angeles, CA, USA

Mark Roberts, MD
Professor and Consultant Neurologist,
University of Manchester, Manchester, UK
Research Lead for Adult Metabolic Medicine at 
Salford Care Organisation, Manchester, UK

Drs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight part podcast series. This is derived from the symposium that was presented at World Symposium 2025, in San Diego, California, on February 4th through 7th, 2025, and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established, and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. 

In this part, Dr. Longo will discuss gene replacement therapy in lysosomal disorders.

Nicola Longo MD, PhD
Let's go back a second to gene therapy. Gene therapy obviously has the potential of answering many of the questions that we still have open in lysosomal disorder because they could restore the activity of the lysosome pretty much in the whole body, or at least in multiple tissues. As you have seen, gene therapy can be done ex vivo where we take cells from the affected patient, we correct the gene, or we put an extra gene that it is functional. Then we put them back by doing a bone marrow transplant, basically creating space for the cells that have been genetically modified to correct the lysosomal defect. The biggest approach this is done usually by lentiviruses that they integrate inside the genome.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>218falsefullhttps://www.spreaker.com/episode/chapter-5-current-treatment-landscape-and-limitations--69155778
Drs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at WORLDSymposium 2025 in San Diego, California on February 4th-7th 2025 and is intended for healthcare professionals only.

This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses.

The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Longo will discuss the current treatment landscape and limitations in lysosomal disorders.

Nicola Longo MD, PhD
What I want to do today, is just place gene replacement therapy within the current landscape of lysosomal storage disorder treatment therapy. Gene therapy obviously has the potential of treating lysosomal disorder to correct the root cause of lysosomal storage disorder. The gene is defective, and what happen is that you can potentially either fix the gene or bypass the lack of the genetic product. But there are already therapies that are existing and are functioning. Obviously, in many cases, the lysosomal disorder is caused by defective production of an enzyme, which is defective.

We can either replace the enzyme with enzyme replacement therapy, or provide chaperone for specific mutations that retain the synthesis of the enzyme, that however is not very functional. Another avenue that it is being reported is the utilization of substrate reduction therapy. A substrate accumulates, you prevent the synthesis of the substrate to reduce the accumulation of toxic material. What we know now is that this is not enough to produce many lysosomal disorders. In many cases, the lysosomal disorder result sometime in impairment of intracellular trafficking, and sometime in the function of other organelles.

At the end, it results in the activation of the macrophagic system and inflammation. Already we have some therapy acting at this level. The end result of lysosomal storage disorder, there will be cell suffering and cell death, leading to a progression of the disease, and morbidity and mortality. Now, what therapy do we have available already? Obviously, hematopoietic stem cell transplantation has been around for quite some time.

It has been the same thing that we do with gene therapy, except that instead of reintroducing the gene of the subject, we place gene of a subject who is not affected of the disease. This therapy has been proven effective in cases of MPS-1 and alpha-mannosidosis. But in many cases this has to be given way before symptoms start to be affected.

Enzyme replacement therapy has been around for quite some time, starting with Gaucher disease, and now that it is available for a list of diseases that are there, so it's like Fabry, Gaucher, Pompe, different types of mucopolysaccharidosis, alpha-mannosidosis, acid lipase deficiency, 1 neuronal ceroid lipofuscinosis, and Niemann-Pick type A and B.

Obviously the advantage of this therapy, they give back the enzyme that it is defective. But the disadvantage that many time they cannot enter specialized areas such as the brain. There is already the second generation of enzyme replacement therapy that it is available. With this second generation, some of the newer drugs are more effective in terms of cellular uptake, or in terms of having a prolonged half-life and prolonged activity.

Then there are pharmacological chaperone therapy, and the one which is FDA approved is migalastat for Fabry disease, under study is ambroxol for Gaucher disease. The disadvantage of this therapy that only a selected number of mutations respond to this therapy.

Substrate reduction therapy has been introduced for Gaucher disease many years ago with miglustat, and it was followed by eliglustat. Both of them are effective, and some of them more effective than other, simply because of the fewer side effects of eliglustat as compared to miglustat. But at the same time, eliglustat does not pass the blood brain barrier.
\
Finally, the newer agents that are already administered, N-acetyl-L-leucine and arimoclomol, both approved for Niemann-Pick type C, they act more on the downstream effect of the lysosomal storage disorder, either by stabilizing neuronal cell activity or by reducing the inflammation that is present in the brain.

In the next part, Dr. Longo will discuss gene replacement therapy in lysosomal disorders.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69155778Sun, 21 Dec 2025 11:36:42 +0000CheckRare EditorsNicola Longo MD, PhD, and Mark Roberts, MD Drs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at WORLDSymposium...
Drs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at WORLDSymposium 2025 in San Diego, California on February 4th-7th 2025 and is intended for healthcare professionals only.

This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses.

The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Longo will discuss the current treatment landscape and limitations in lysosomal disorders.

Nicola Longo MD, PhD
What I want to do today, is just place gene replacement therapy within the current landscape of lysosomal storage disorder treatment therapy. Gene therapy obviously has the potential of treating lysosomal disorder to correct the root cause of lysosomal storage disorder. The gene is defective, and what happen is that you can potentially either fix the gene or bypass the lack of the genetic product. But there are already therapies that are existing and are functioning. Obviously, in many cases, the lysosomal disorder is caused by defective production of an enzyme, which is defective.

We can either replace the enzyme with enzyme replacement therapy, or provide chaperone for specific mutations that retain the synthesis of the enzyme, that however is not very functional. Another avenue that it is being reported is the utilization of substrate reduction therapy. A substrate accumulates, you prevent the synthesis of the substrate to reduce the accumulation of toxic material. What we know now is that this is not enough to produce many lysosomal disorders. In many cases, the lysosomal disorder result sometime in impairment of intracellular trafficking, and sometime in the function of other organelles.

At the end, it results in the activation of the macrophagic system and inflammation. Already we have some therapy acting at this level. The end result of lysosomal storage disorder, there will be cell suffering and cell death, leading to a progression of the disease, and morbidity and mortality. Now, what therapy do we have available already? Obviously, hematopoietic stem cell transplantation has been around for quite some time.

It has been the same thing that we do with gene therapy, except that instead of reintroducing the gene of the subject, we place gene of a subject who is not affected of the disease. This therapy has been proven effective in cases of MPS-1 and alpha-mannosidosis. But in many cases this has to be given way before symptoms start to be affected.

Enzyme replacement therapy has been around for quite some time, starting with Gaucher disease, and now that it is available for a list of diseases that are there, so it's like Fabry, Gaucher, Pompe, different types of mucopolysaccharidosis, alpha-mannosidosis, acid lipase deficiency, 1 neuronal ceroid lipofuscinosis, and Niemann-Pick type A and B.

Obviously the advantage of this therapy, they give back the enzyme that it is defective. But the disadvantage that many time they cannot enter specialized areas such as the brain. There is already the second generation of enzyme replacement therapy that it is available. With this second generation, some of the newer drugs are more effective in terms of cellular uptake, or in terms of having a prolonged half-life and prolonged activity.541falsefullhttps://www.spreaker.com/episode/chapter-4-lessons-learnt-from-gene-therapy-trials--69155753
Nicola Longo MD, PhD
Professor and Vice Chair of Human Genetics,
Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,
Division of Clinical Genetics, Department of Human Genetics,
University of California at Los Angeles (UCLA), Los Angeles, CA, USA

Mark Roberts, MD
Professor and Consultant Neurologist,
University of Manchester, Manchester, UK
Research Lead for Adult Metabolic Medicine at 
Salford Care Organisation, Manchester, UK

Drs.Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025 and is intended for healthcare professionals only.

This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas.

In this part, Dr. Roberts will discuss lessons learned from gene therapy trials.

Mark Roberts, MD
When we think about the challenges of actually doing clinical trials with these gene therapies, there's a huge development stage in terms of picking the right viral vector with the right surface receptor. That's a major piece of work. That can often take years. The preclinical work is obviously very important as indeed is understanding the natural history because it's really not practical to do placebo-controlled trials of gene therapies.

In contrast to other studies, when we turn to phase 1 and phase 2, you'll notice that the patient numbers are often quite small. One is having to think carefully about surrogate measurements of response. Especially when in phase 3 studies, we may be thinking about withdrawing the existing, for example, enzyme replacement therapy because we believe the gene therapy will then be effective.
That's just a few snapshots of where we've come and there's a lot more work to be done.

In the next part, Dr. Longo will discuss the current treatment landscape and limitations in lysosomal disorders.





Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69155753Sun, 21 Dec 2025 11:33:03 +0000CheckRare EditorsNicola Longo MD, PhD, and Mark Roberts, MD Nicola Longo MD, PhD Professor and Vice Chair of Human Genetics, Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine, Division of Clinical Genetics, Department of Human Genetics, University of...
Nicola Longo MD, PhD
Professor and Vice Chair of Human Genetics,
Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,
Division of Clinical Genetics, Department of Human Genetics,
University of California at Los Angeles (UCLA), Los Angeles, CA, USA

Mark Roberts, MD
Professor and Consultant Neurologist,
University of Manchester, Manchester, UK
Research Lead for Adult Metabolic Medicine at 
Salford Care Organisation, Manchester, UK

Drs.Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025 and is intended for healthcare professionals only.

This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas.

In this part, Dr. Roberts will discuss lessons learned from gene therapy trials.

Mark Roberts, MD
When we think about the challenges of actually doing clinical trials with these gene therapies, there's a huge development stage in terms of picking the right viral vector with the right surface receptor. That's a major piece of work. That can often take years. The preclinical work is obviously very important as indeed is understanding the natural history because it's really not practical to do placebo-controlled trials of gene therapies.

In contrast to other studies, when we turn to phase 1 and phase 2, you'll notice that the patient numbers are often quite small. One is having to think carefully about surrogate measurements of response. Especially when in phase 3 studies, we may be thinking about withdrawing the existing, for example, enzyme replacement therapy because we believe the gene therapy will then be effective.
That's just a few snapshots of where we've come and there's a lot more work to be done.

In the next part, Dr. Longo will discuss the current treatment landscape and limitations in lysosomal disorders.





Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>128falsefullhttps://www.spreaker.com/episode/chapter-3-immune-responses-and-other-safety-concerns-related-to-gene-therapies--69155741
Nicola Longo MD, PhD
Professor and Vice Chair of Human Genetics,
Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,
Division of Clinical Genetics, Department of Human Genetics,
University of California at Los Angeles (UCLA), Los Angeles, CA, USA

Mark Roberts, MD
Profesor and Consultant Neurologist,
University of Manchester, Manchester, UK
Research Lead for Adult Metabolic Medicine at 
Salford Care Organisation, Manchester, UK

Drs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this 8-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th-7th 2025 and is intended for healthcare professionals only.

This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses.

The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Roberts will discuss immune responses and other safety concerns related to gene therapies.

Mark Roberts, MD
Undoubtedly, the immune system is a major issue in these patients. It would be fantastic if we could immunotolerize our patients and indeed prevent the rejection of the therapy. We've talked about the fact that these are viral vectors and of course there may be high seroprevalence of antibodies to these viral vectors, and it's very important in the pre-screening of patients who might be eligible to understand that at the beginning. These of course can have developed over the years and of course can be part of immunological memory and therefore extremely difficult and probably impractical to actually shift.

On giving the treatment though as I think we're all aware there is this problem of the innate immunity and potential therefore for acute toxicities and then a learned or adaptive response with cytotoxic T cells and antibodies which may of course become high tighter neutralizing antibodies and potentially antibodies not only against the viral vector, even the functional protein, even the transgene are all theoretical possibilities with time. The capsid, the transgene, and even the protein product can all potentially induce an immunological event. Of course, all of these would lead to both potential patient changes and then a lack of efficacy of the treatment.

Indeed, there have been some serious and indeed fatal problems in the gene therapy development program as I think we're all aware. Though many of these are thankfully been overcome. Spinal muscular atrophy has a gene therapy which is licensed, but there were early patients who actually had significant problems. A patient of just 6 months of age who developed kidney failure, two other patients who actually developed liver failure.

In Duchenne muscular dystrophy, a very common condition, again there were significant issues and crucially in these patients who all have cardiomyopathy, it was heart failure and cardiac arrest that were big concerns and pulmonary edema and this was seen even with a CRISPR-based technology and is perhaps is best known but has been addressed the excellent myotubular myopathy patients, four patients died and crucially quite a long time after the gene therapy emphasizing the need to monitor these patients extremely carefully and these patients died of cholestatic liver failure albeit that they had a degree of liver dysfunction.

That's changed our screening of course of patients, we're now all looking in myotubular patients for liver involvement and Rett syndrome as well. Now these immunoprophylaxis treatment regimes to hopefully try and reduce the immunological reaction against the gene are certainly evolving.
This is just a summary of some of the other immunosuppressive regimes used in other disorders, for example, spinal muscular atrophy, but Pompe and MPS as examples of LSDs. Certainly these regimes will continue to evolve and are going to be very important in seeking to make sure that these treatments are effective. It reminds me somewhat of what's happened with enzyme replacement therapy that the use of these immunological strategies in infants has revolutionized the utility of those treatments in early patients.

In the next part, Dr. Roberts will discuss lessons learned from gene therapy trials.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69155741Sun, 21 Dec 2025 11:29:23 +0000CheckRare EditorsNicola Longo MD, PhD, and Mark Roberts, MD Nicola Longo MD, PhD Professor and Vice Chair of Human Genetics, Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine, Division of Clinical Genetics, Department of Human Genetics, University of...
Nicola Longo MD, PhD
Professor and Vice Chair of Human Genetics,
Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,
Division of Clinical Genetics, Department of Human Genetics,
University of California at Los Angeles (UCLA), Los Angeles, CA, USA

Mark Roberts, MD
Profesor and Consultant Neurologist,
University of Manchester, Manchester, UK
Research Lead for Adult Metabolic Medicine at 
Salford Care Organisation, Manchester, UK

Drs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this 8-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th-7th 2025 and is intended for healthcare professionals only.

This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses.

The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Roberts will discuss immune responses and other safety concerns related to gene therapies.

Mark Roberts, MD
Undoubtedly, the immune system is a major issue in these patients. It would be fantastic if we could immunotolerize our patients and indeed prevent the rejection of the therapy. We've talked about the fact that these are viral vectors and of course there may be high seroprevalence of antibodies to these viral vectors, and it's very important in the pre-screening of patients who might be eligible to understand that at the beginning. These of course can have developed over the years and of course can be part of immunological memory and therefore extremely difficult and probably impractical to actually shift.

On giving the treatment though as I think we're all aware there is this problem of the innate immunity and potential therefore for acute toxicities and then a learned or adaptive response with cytotoxic T cells and antibodies which may of course become high tighter neutralizing antibodies and potentially antibodies not only against the viral vector, even the functional protein, even the transgene are all theoretical possibilities with time. The capsid, the transgene, and even the protein product can all potentially induce an immunological event. Of course, all of these would lead to both potential patient changes and then a lack of efficacy of the treatment.

Indeed, there have been some serious and indeed fatal problems in the gene therapy development program as I think we're all aware. Though many of these are thankfully been overcome. Spinal muscular atrophy has a gene therapy which is licensed, but there were early patients who actually had significant problems. A patient of just 6 months of age who developed kidney failure, two other patients who actually developed liver failure.

In Duchenne muscular dystrophy, a very common condition, again there were significant issues and crucially in these patients who all have cardiomyopathy, it was heart failure and cardiac arrest that were big concerns and pulmonary edema and this was seen even with a CRISPR-based technology and is perhaps is best known but has been addressed the excellent myotubular myopathy patients, four patients died and crucially quite a long time after the gene therapy emphasizing the need to monitor these patients extremely carefully and these patients died of cholestatic liver failure albeit...]]>290falsefullhttps://www.spreaker.com/episode/chapter-2-vectors-different-strategies-modes-of-administration-and-targets--69155684
Nicola Longo MD, PhD
Professor and Vice Chair of Human Genetics,
Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,
Division of Clinical Genetics, Department of Human Genetics,
University of California at Los Angeles (UCLA), Los Angeles, CA, USA

Mark Roberts, MD
Profesor and Consultant Neurologist,
University of Manchester, Manchester, UK
Research Lead for Adult Metabolic Medicine at 
Salford Care Organisation, Manchester, UK

Drs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025 and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice.

The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Roberts will discuss vectors, different strategies, modes of administration and targets in gene replacement therapies.

Mark Roberts, MD
Now in the broader sense, gene replacement therapy seeks to actually deliver genetic material directly into the host cell to influence gene expression. In the most simple idea, one of course has a vector, this is most commonly but not exclusively a virus, which can then be given intravenously for example, and can hope to potentially correct the condition within the individual cells using novel transgenes. Suitable candidate conditions for this as examples of genetic conditions are now well understood. And crucially, this applies not only towards some more recessive, but dominant and even accident conditions.

Across the piece, one can see for example, mitochondrial problems, spinal muscular atrophy as is well known, X-linked myotubular myopathy, Duchenne muscular dystrophy, a very common condition affecting one in 3000 male individuals, Pompe disease of course, an important focus of the meeting here, but other very common conditions, for example, cystic fibrosis, immunological conditions and perhaps obviously very crucial in early work on gene therapy, hemophilia.

Let's now think about the approaches to gene therapy. One can seek to work at the DNA level and gene replacement. In essence, one is trying to put a new transgene through into the nucleus that will ultimately be transcribed and translated and produce the important functional protein that is lost. Gene editing which is a very exciting new technology or CRISPR technology actually seeks to actually modify in vivo the actual mutations that are responsible for the pathogenic production of abnormal proteins and correcting these and actually producing a more normalized protein.

But of course there are also RNA approaches where one seeks to actually repair the mRNA transcripts copied from the mutated gene. For example, this may be a novel approach that could be extremely useful in myotonic dystrophy, a multisystem condition. When we talk about the viral vectors, predominantly we're talking about viruses. Those such as adenoviruses and AAV viruses which have the virtue of not integrating into the host genome or at least not in a large amount, and those which deliberately seek to integrate into host genome such as retroviral or lentiviral systems that may be particularly useful for ex vivo systems.

There are of course other ways to get genetic payloads into the nucleus, various polymers, nanoparticles and even cell penetrating peptides. Nanoparticles in particular is certainly on the ascendant. That being said, in a recent review of the clinical trials in gene therapy, it was certainly the viral vectors that stood out both in direct gene replacement with lentivirus and AAV, but also actually as delivery systems, for example, for gene editing. An example of what one is seeking to do with AAV, so of course one seeking to remove the native DNA, insert the new transgene directly into the vector and of course keen to make sure that there's a high transmission into the capsid producing a recombinant AAV, which then can be given as a treatment and hopefully produce a therapeutic increase in the functional protein that is deficit in the disorder.

In the next part, Dr. Roberts will discuss immune responses and other safety concerns related to gene therapies.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69155684Sun, 21 Dec 2025 11:24:14 +0000CheckRare EditorsNicola Longo MD, PhD, and Mark Roberts, MD  Nicola Longo MD, PhD Professor and Vice Chair of Human Genetics, Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine, Division of Clinical Genetics, Department of Human Genetics, University of...
Nicola Longo MD, PhD
Professor and Vice Chair of Human Genetics,
Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,
Division of Clinical Genetics, Department of Human Genetics,
University of California at Los Angeles (UCLA), Los Angeles, CA, USA

Mark Roberts, MD
Profesor and Consultant Neurologist,
University of Manchester, Manchester, UK
Research Lead for Adult Metabolic Medicine at 
Salford Care Organisation, Manchester, UK

Drs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025 and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice.

The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Roberts will discuss vectors, different strategies, modes of administration and targets in gene replacement therapies.

Mark Roberts, MD
Now in the broader sense, gene replacement therapy seeks to actually deliver genetic material directly into the host cell to influence gene expression. In the most simple idea, one of course has a vector, this is most commonly but not exclusively a virus, which can then be given intravenously for example, and can hope to potentially correct the condition within the individual cells using novel transgenes. Suitable candidate conditions for this as examples of genetic conditions are now well understood. And crucially, this applies not only towards some more recessive, but dominant and even accident conditions.

Across the piece, one can see for example, mitochondrial problems, spinal muscular atrophy as is well known, X-linked myotubular myopathy, Duchenne muscular dystrophy, a very common condition affecting one in 3000 male individuals, Pompe disease of course, an important focus of the meeting here, but other very common conditions, for example, cystic fibrosis, immunological conditions and perhaps obviously very crucial in early work on gene therapy, hemophilia.

Let's now think about the approaches to gene therapy. One can seek to work at the DNA level and gene replacement. In essence, one is trying to put a new transgene through into the nucleus that will ultimately be transcribed and translated and produce the important functional protein that is lost. Gene editing which is a very exciting new technology or CRISPR technology actually seeks to actually modify in vivo the actual mutations that are responsible for the pathogenic production of abnormal proteins and correcting these and actually producing a more normalized protein.

But of course there are also RNA approaches where one seeks to actually repair the mRNA transcripts copied from the mutated gene. For example, this may be a novel approach that could be extremely useful in myotonic dystrophy, a multisystem condition. When we talk about the viral vectors, predominantly we're talking about viruses. Those such as adenoviruses and AAV viruses which have the virtue of not integrating into the host genome or at least not in a large amount, and those which deliberately seek to integrate into host genome such as retroviral or lentiviral systems that may be particularly useful for ex vivo...]]>539falsefullhttps://www.spreaker.com/episode/chapter-1-lysosomal-disorders-and-the-potential-for-gene-therapies--69097860Professor and Vice Chair of Human Genetics,
Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,
Division of Clinical Genetics, Department of Human Genetics,
University of California at Los Angeles (UCLA), Los Angeles, CA, USA

Mark Roberts, MD
Professor and Consultant Neurologist,
University of Manchester, Manchester, UK
Research Lead for Adult Metabolic Medicine at 
Salford Care Organisation, Manchester, UK

Drs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025, and is intended for healthcare professionals only.

This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established, and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses.

The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas.

In this part, Dr. Roberts will discuss lysosomal disorders and the potential for gene therapies.

Mark Roberts, MD
I'm going to give an overview of what is gene therapy, emphasizing the current challenges and the development issues and needs that there will be as we try and enable gene therapy for our patients, particularly those with lysosomal storage disorders.

I'm going to try and make a case for why lysosomal storage disorders are an extremely good group of conditions for the potential benefits of gene modifying therapies. Firstly, whilst we all recognize that these conditions are inherently individually rare, they're certainly severe. Collectively, with over 70 LSD disorders, 1 in 5,000 may be afflicted by these conditions ultimately in their life and can be detected, for example, by newborn screening programs.

Secondly, there's certainly a significant clinical burden with these patients with the current standard of care, so a large unmet need exists. Existing enzyme replacement therapies have undoubtedly changed the natural history of many of these conditions, but there are limitations and often initial benefits and later deteriorations.


Unfortunately, for most lysosomal storage disorders, it's only symptomatic treatments and indeed, care that is available for these patients with no specific treatment. Thirdly, these conditions are extremely well-characterized, monogenic singleton and problems of inborn errors of metabolism. We know the functional protein that is deficient in these conditions. Because of that, and knowing that these are critical for lysosomal function, and using preclinical models, we can model the potential benefits of gene therapies very well in a number of systems, including, of course, soon, muscle chip experiments as well.

Finally, with these conditions, they may potentially be really useful targets whilst not perhaps curing the condition, at least ameliorating the phenotype, and enabling the addition of other treatments as well, potentially. I've noted, some of these therapies can be directly delivered to certain tissues, so muscle tissue, which is my main interest, but also, crucially, the central nervous system, which is very important when we consider ameliorated phenotypes, for example, treated by enzyme replacement therapy, but where the children who become the adults have significant learning disability as a major component to their problems.

In the next part, Dr. Roberts will discuss vectors, different strategies, modes of administration, and targets in gene replacement therapies.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/69097860Wed, 17 Dec 2025 16:29:35 +0000CheckRare EditorsNicola Longo MD, PhD Professor and Vice Chair of Human Genetics, Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine, Division of Clinical Genetics, Department of Human Genetics, University of California at Los Angeles (UCLA), Los...Professor and Vice Chair of Human Genetics,
Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,
Division of Clinical Genetics, Department of Human Genetics,
University of California at Los Angeles (UCLA), Los Angeles, CA, USA

Mark Roberts, MD
Professor and Consultant Neurologist,
University of Manchester, Manchester, UK
Research Lead for Adult Metabolic Medicine at 
Salford Care Organisation, Manchester, UK

Drs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025, and is intended for healthcare professionals only.

This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established, and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses.

The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas.

In this part, Dr. Roberts will discuss lysosomal disorders and the potential for gene therapies.

Mark Roberts, MD
I'm going to give an overview of what is gene therapy, emphasizing the current challenges and the development issues and needs that there will be as we try and enable gene therapy for our patients, particularly those with lysosomal storage disorders.

I'm going to try and make a case for why lysosomal storage disorders are an extremely good group of conditions for the potential benefits of gene modifying therapies. Firstly, whilst we all recognize that these conditions are inherently individually rare, they're certainly severe. Collectively, with over 70 LSD disorders, 1 in 5,000 may be afflicted by these conditions ultimately in their life and can be detected, for example, by newborn screening programs.

Secondly, there's certainly a significant clinical burden with these patients with the current standard of care, so a large unmet need exists. Existing enzyme replacement therapies have undoubtedly changed the natural history of many of these conditions, but there are limitations and often initial benefits and later deteriorations.


Unfortunately, for most lysosomal storage disorders, it's only symptomatic treatments and indeed, care that is available for these patients with no specific treatment. Thirdly, these conditions are extremely well-characterized, monogenic singleton and problems of inborn errors of metabolism. We know the functional protein that is deficient in these conditions. Because of that, and knowing that these are critical for lysosomal function, and using preclinical models, we can model the potential benefits of gene therapies very well in a number of systems, including, of course, soon, muscle chip experiments as well.

Finally, with these conditions, they may potentially be really useful targets whilst not perhaps curing the condition, at least ameliorating the phenotype, and enabling the addition of other treatments as well, potentially. I've noted, some of these therapies can be directly delivered to certain tissues, so muscle tissue, which is my main interest, but also, crucially, the central nervous system, which is very important when we consider ameliorated phenotypes, for example, treated by enzyme replacement therapy, but where the children who become the adults have significant learning disability as a major component to their problems.

In the next...]]>214falsefullhttps://www.spreaker.com/episode/catching-the-clues-changing-the-course-of-lysosomal-storage-disorders--68974643Chair
Professor Yoshikatsu Eto
Advanced Clinical Research Center, Southern Tohoku Research Center for Neuroscience, Tokyo, Japan

Speakers
Dr Nicole Muschol 
International Center for Lysosomal Disorders (ICLD), University Medical Center, Hamburg-Eppendorf, Germany

Professor Patrício Aguiar
Inborn Errors of Metabolism Reference Center, Unidade Local de Saúde de Santa Maria / Faculty of Medicine, Lisbon University, Portugal

Dr Robert Hopkin
Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA

Professor Yoshikatsu Eto
Welcome to the Chiesi symposium. The title of this symposium, Catching the Clues, Changing the Cause of Lysosomal Storage Disease: Illuminating Complex Pathway of Rare Disease with Fabry Disease, Alpha-Mannosidosis, in Focus.

This is a disclaimer: Following discussion does not focus on or depict any specific products manufactured by any pharmaceutical company. Patient cases are for medical discussion only and reflect the faculty own experience. They represent a typical clinical scenario. This presentation in part and whole may not be reproduced and not copy and not recording.

I'm Dr. Eto from Tokyo, Japan, and the three distinguished speakers: Dr. Nicole Muschol from Germany, Eppendorf University. Professor Aguiar, the Portuguese, The Inborn Errors of Metabolism Reference Center, and also Professor Robert Hopkin, Cincinnati Children's Hospital, United States.
The purpose of this symposium: Explore the patient journey across the LSD continuum, focusing on the unmet needs and diagnosis, and treatment initiation, and long-term management, and utilize case-based discussion focused on Alpha-mannosidosis, Fabry disease to highlight disease-specific challenges. Access where challenge persist in patient journey, and where tailored intervention can improve outcomes.

Introduction of LSD patient journey with a spotlight on Fabry disease, Alpha-mannosidosis. Challenge to the diagnosis and then treatment and monitoring. Common LSD challenges over the patient journey, as shown here, and at least more than 70 different lysosomal diseases known. Incidence is about 1:5,000-1:8,000 in newborn. In the literature, much higher incidence.

Multi-organ manifestation in many organ involved, and clinical heterogeneity are very complicated. The new screen method has been established already. Identify patient presymptomatically. That important by the newborn screening, something like that, early treatment essential. After the diagnosis treatment start, early and the presymptomatic treatment initiation, and usually delayed diagnosis, delayed treatment. Perceived burden of treatment may delay treatment start in patient milder form. Milder form is very difficult in the many cases, and particularly for Fabry disease also.

After the treatment start and then monitoring, as you know, we discussed about the monitoring rely on the combination of clinical assessment, laboratory test, biomarkers, and imaging, and several other factors. Biomarkers and ADA drug assay lack standardization. Actually, the Alpha, and Beta, or [inaudible 00:03:19] Fabry disease, different ADA-titled measurement. Also, the patient experience between clinical visit, ERT infusion is under-reported.

We discuss today two topics, two disease. Alpha-mannosidosis is very rare. In Japan, only few cases, and caused by the deficiency of Alpha-mannosidase, an accumulation of mannose-rich oligosaccharides and inheritance of autosomal-recessive. Age of onset is a very early period and younger period, adult period. Incidence approximately is very rare, 1:500,000.

There are diseases we don't know exactly. If you have a treatment, maybe your incidence is much increased, and severe or attenuated [inaudible 00:04:09]. Alpha-mannosidosis is still a new disorder, and must differentiate from Mucopolysaccharidosis.

On the other hand, the Fabry disease I think is very common. There are many discussion already in the past 20 years. Deficiency of a-Gal A, accumulation of Gb3⁵­­ or Lyso-Gb3, many other glycoprotein, which a terminal of a-Gal A, and X-chromosome. This is very important X-chromosomal inheritance. In case of this, and usually, female does not affect, but in case of Fabry, more of female also involved.
First symptom, imagine at any age. Then incidence about 1:40,000-1:60,000. But depending on the country, as you know, classical form, about 1:40,000. Recently, after the newborn screening, late onset, very high incidence. About 90% of it—actually, we carried out a newborn screening in Japan—90% are late onset. But the clinical variety, so many clinical varieties, so incidents here, 1:3,000-1:4,000, something like that. Now, using the Alpha-mannosidosis and Fabry disease as an illustrative example, we will explore these disorders.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/68974643Wed, 10 Dec 2025 16:25:56 +0000CheckRare EditorsChair Professor Yoshikatsu Eto Advanced Clinical Research Center, Southern Tohoku Research Center for Neuroscience, Tokyo, Japan Speakers Dr Nicole Muschol  International Center for Lysosomal Disorders (ICLD), University Medical Center,...Chair
Professor Yoshikatsu Eto
Advanced Clinical Research Center, Southern Tohoku Research Center for Neuroscience, Tokyo, Japan

Speakers
Dr Nicole Muschol 
International Center for Lysosomal Disorders (ICLD), University Medical Center, Hamburg-Eppendorf, Germany

Professor Patrício Aguiar
Inborn Errors of Metabolism Reference Center, Unidade Local de Saúde de Santa Maria / Faculty of Medicine, Lisbon University, Portugal

Dr Robert Hopkin
Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA

Professor Yoshikatsu Eto
Welcome to the Chiesi symposium. The title of this symposium, Catching the Clues, Changing the Cause of Lysosomal Storage Disease: Illuminating Complex Pathway of Rare Disease with Fabry Disease, Alpha-Mannosidosis, in Focus.

This is a disclaimer: Following discussion does not focus on or depict any specific products manufactured by any pharmaceutical company. Patient cases are for medical discussion only and reflect the faculty own experience. They represent a typical clinical scenario. This presentation in part and whole may not be reproduced and not copy and not recording.

I'm Dr. Eto from Tokyo, Japan, and the three distinguished speakers: Dr. Nicole Muschol from Germany, Eppendorf University. Professor Aguiar, the Portuguese, The Inborn Errors of Metabolism Reference Center, and also Professor Robert Hopkin, Cincinnati Children's Hospital, United States.
The purpose of this symposium: Explore the patient journey across the LSD continuum, focusing on the unmet needs and diagnosis, and treatment initiation, and long-term management, and utilize case-based discussion focused on Alpha-mannosidosis, Fabry disease to highlight disease-specific challenges. Access where challenge persist in patient journey, and where tailored intervention can improve outcomes.

Introduction of LSD patient journey with a spotlight on Fabry disease, Alpha-mannosidosis. Challenge to the diagnosis and then treatment and monitoring. Common LSD challenges over the patient journey, as shown here, and at least more than 70 different lysosomal diseases known. Incidence is about 1:5,000-1:8,000 in newborn. In the literature, much higher incidence.

Multi-organ manifestation in many organ involved, and clinical heterogeneity are very complicated. The new screen method has been established already. Identify patient presymptomatically. That important by the newborn screening, something like that, early treatment essential. After the diagnosis treatment start, early and the presymptomatic treatment initiation, and usually delayed diagnosis, delayed treatment. Perceived burden of treatment may delay treatment start in patient milder form. Milder form is very difficult in the many cases, and particularly for Fabry disease also.

After the treatment start and then monitoring, as you know, we discussed about the monitoring rely on the combination of clinical assessment, laboratory test, biomarkers, and imaging, and several other factors. Biomarkers and ADA drug assay lack standardization. Actually, the Alpha, and Beta, or [inaudible 00:03:19] Fabry disease, different ADA-titled measurement. Also, the patient experience between clinical visit, ERT infusion is under-reported.

We discuss today two topics, two disease. Alpha-mannosidosis is very rare. In Japan, only few cases, and caused by the deficiency of Alpha-mannosidase, an accumulation of mannose-rich oligosaccharides and inheritance of autosomal-recessive. Age of onset is a very early period and younger period, adult period. Incidence approximately is very rare, 1:500,000.

There are diseases we don't know exactly. If you have a treatment, maybe your incidence is much increased, and severe or attenuated [inaudible 00:04:09]. Alpha-mannosidosis is still a new disorder, and must differentiate from...]]>2797falsefullhttps://www.spreaker.com/episode/myasthenia-gravis-clinical-research-highlights-aan-2025--67551629
This accredited CME program highlights the latest clinical research about myasthenia gravis, a rare, autoimmune disease that targets the neuromuscular junction.  This program, led by Dr. James Howard Jr, provides a summary of clinically relevant data presented at the American Academy of Neurology Annual Meeting (AAN 2025) held in San Diego, CA that can enhance the care of patients with myasthenia gravis.  

To obtain CME credit for this program, visit https://checkrare.com/learning/p-myasthenia-gravis-clinical-research-highlights-aan-2025/

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, ophthalmology, rheumatology, and family practice. Other members of the care team may also participate.

Learning Objectives
After participating in the activity, learners should be better able to:
Describe the latest research being presented to better manage individuals with myasthenia gravis and its clinical relevance.

FACULTY 
James F. Howard Jr, MD, FAAN
Professor of Neurology
University of North Carolina at Chapel Hill

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:

Faculty Educator/Planner

Dr. Howard discloses the following relevant financial relationships with ineligible companies:

Advisory Board/Consultant: Alexion AstraZeneca Rare Disease, Amgen, argenx, Biohaven Ltd, Cartesian Therapeutics, CoreEvitas, Curie.bio, Hansa Biopharma, H. Lundbeck A/S, Merck EMD Serono, NMD Pharma, Novartis Pharma, Regeneron Pharmaceuticals, Sanofi US, Seismic Therapeutics, TG Therapeutics, Toleranzia AB, and UCB Pharma
Grant/Research Support: Ad Scientiam, Alexion AstraZeneca Rare Disease, argenx, Cartesian Therapeutics, NMD Pharma, and UCB Pharma
Other Relationships: non-financial support (eg travel) Alexion AstraZeneca Rare Disease, argenx, Biohaven Ltd, Cartesian Therapeutics, Toleranzia AB, and UCB Pharma.

Other Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

CREDIT 
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of participation.

There are no fees to participate in the activity.  Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact
For any questions, please contact: CEServices@academycme.org

Copyright
© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/67551629Fri, 29 Aug 2025 09:59:02 +0000CheckRare EditorsThis program is supported by an educational grant from UCB, Inc.  This accredited CME program highlights the latest clinical research about myasthenia gravis, a rare, autoimmune disease that targets the neuromuscular junction.  This program, led by...
This accredited CME program highlights the latest clinical research about myasthenia gravis, a rare, autoimmune disease that targets the neuromuscular junction.  This program, led by Dr. James Howard Jr, provides a summary of clinically relevant data presented at the American Academy of Neurology Annual Meeting (AAN 2025) held in San Diego, CA that can enhance the care of patients with myasthenia gravis.  

To obtain CME credit for this program, visit https://checkrare.com/learning/p-myasthenia-gravis-clinical-research-highlights-aan-2025/

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, ophthalmology, rheumatology, and family practice. Other members of the care team may also participate.

Learning Objectives
After participating in the activity, learners should be better able to:
Describe the latest research being presented to better manage individuals with myasthenia gravis and its clinical relevance.

FACULTY 
James F. Howard Jr, MD, FAAN
Professor of Neurology
University of North Carolina at Chapel Hill

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:

Faculty Educator/Planner

Dr. Howard discloses the following relevant financial relationships with ineligible companies:

Advisory Board/Consultant: Alexion AstraZeneca Rare Disease, Amgen, argenx, Biohaven Ltd, Cartesian Therapeutics, CoreEvitas, Curie.bio, Hansa Biopharma, H. Lundbeck A/S, Merck EMD Serono, NMD Pharma, Novartis Pharma, Regeneron Pharmaceuticals, Sanofi US, Seismic Therapeutics, TG Therapeutics, Toleranzia AB, and UCB Pharma
Grant/Research Support: Ad Scientiam, Alexion AstraZeneca Rare Disease, argenx, Cartesian Therapeutics, NMD Pharma, and UCB Pharma
Other Relationships: non-financial support (eg travel) Alexion AstraZeneca Rare Disease, argenx, Biohaven Ltd, Cartesian Therapeutics, Toleranzia AB, and UCB Pharma.

Other Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

CREDIT 
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credits™. Physicians should claim only the...]]>2447myasthenia-gravis,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/mastocytosis-control-test-implications-for-physicians--67414952
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/67414952Mon, 18 Aug 2025 12:53:30 +0000CheckRare EditorsWarner Carr, MD, Allergist and Immunologist at the Allergy and Asthma Associates of Southern California, discusses the mastocytosis control test and its implications for physicians.
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>457allergist,asthma,carr,immunologist,rare-diseasefalsefullhttps://www.spreaker.com/episode/fabry-disease-research-highlights--66085232
Fabry disease is an inherited lysosomal storage disease caused by mutations in the GLA gene, disrupting the function of the enzyme, α-galactosidase. This results in the accumulation of globotriaosylceramide (GL-3) and its deacylated form, globotriaosylsphingosine (lyso-GL-3), leading to progressive disruption of multiple organ systems. 

There are currently three treatment options available for Fabry disease, including two enzyme replacement therapies, agalsidase beta and pegunigalsidase alfa, and a chaperone therapy, migalastat. There are also other treatments in development (e.g., gene therapy, other enzyme replacement therapies) and some that are available in other countries (e.g., agalsidase alfa). 
Due to the small patient population and variability in Fabry disease severity, it is challenging to develop properly powered, placebo-controlled clinical trials. As such, data shared at conferences like WORLDSymposium 2025 are crucial for guiding best practices in this disease area. This program, led by Dr. Eric Wallace, provides a summary of clinically relevant data presented at WORLDSymposium 2025 that can enhance the care of patients with Fabry disease.  

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, nephrology, cardiology, gastroenterology, ophthalmology, and dermatology. Other members of the care team may also participate.

Learning Objectives
After participating in the activity, learners should be better able to: Describe the latest research being presented to better manage individuals with Fabry disease and its clinical relevance.

Eric Wallace, MD
Professor of Medicine
Department of Nephrology
University of Alabama Medical School
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:

Faculty Educator/Planner

Dr. Wallace discloses the following relevant financial relationships with ineligible companies:
Advisory Board Consultant: Sanofi-Genzyme, Chiesi, Kyowa Kirin, Sangamo, Natera
Grant/Research Support: Sanofi-Genzyme, Chiesi, Uniqure, Idorsia, Amicus 

Other Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation

In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of participation.
There are no fees to participate in the activity.  Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.

Hardware/Software Requirements
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact
For any questions, please contact: CEServices@academycme.org

Copyright
© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/66085232Mon, 26 May 2025 22:12:02 +0000CheckRare EditorsThis program is supported by educational grants from Amicus Therapeutics, Inc. and Chiesi USA Inc. Fabry disease is an inherited lysosomal storage disease caused by mutations in the GLA gene, disrupting the function of the enzyme, α-galactosidase....
Fabry disease is an inherited lysosomal storage disease caused by mutations in the GLA gene, disrupting the function of the enzyme, α-galactosidase. This results in the accumulation of globotriaosylceramide (GL-3) and its deacylated form, globotriaosylsphingosine (lyso-GL-3), leading to progressive disruption of multiple organ systems. 

There are currently three treatment options available for Fabry disease, including two enzyme replacement therapies, agalsidase beta and pegunigalsidase alfa, and a chaperone therapy, migalastat. There are also other treatments in development (e.g., gene therapy, other enzyme replacement therapies) and some that are available in other countries (e.g., agalsidase alfa). 
Due to the small patient population and variability in Fabry disease severity, it is challenging to develop properly powered, placebo-controlled clinical trials. As such, data shared at conferences like WORLDSymposium 2025 are crucial for guiding best practices in this disease area. This program, led by Dr. Eric Wallace, provides a summary of clinically relevant data presented at WORLDSymposium 2025 that can enhance the care of patients with Fabry disease.  

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, nephrology, cardiology, gastroenterology, ophthalmology, and dermatology. Other members of the care team may also participate.

Learning Objectives
After participating in the activity, learners should be better able to: Describe the latest research being presented to better manage individuals with Fabry disease and its clinical relevance.

Eric Wallace, MD
Professor of Medicine
Department of Nephrology
University of Alabama Medical School
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:

Faculty Educator/Planner

Dr. Wallace discloses the following relevant financial relationships with ineligible companies:
Advisory Board Consultant: Sanofi-Genzyme, Chiesi, Kyowa Kirin, Sangamo, Natera
Grant/Research Support: Sanofi-Genzyme, Chiesi, Uniqure, Idorsia, Amicus 

Other Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation

In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
1523fabry,lysosomal,rare-diseasefalsefullhttps://www.spreaker.com/episode/consider-rare-suspecting-and-diagnosing-fibrodysplasia-ossificans-progressiva-fop--65794175
This educational program is made possible by an unrestricted grant from the International Fibrodysplasia ossificans progressiva Association (IFOPA).

To see the video, please visit https://checkrare.com/suspecting-and-diagnosing-fibrodysplasia-ossificans-progressiva-fop/ 

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/65794175Mon, 05 May 2025 20:11:16 +0000CheckRare EditorsFibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by abnormal bone development. Most babies with FOP appear normal and healthy at birth with one exception—the appearance of deformed big toes. Unfortunately,...
This educational program is made possible by an unrestricted grant from the International Fibrodysplasia ossificans progressiva Association (IFOPA).

To see the video, please visit https://checkrare.com/suspecting-and-diagnosing-fibrodysplasia-ossificans-progressiva-fop/ 

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>3166abnormal-bone-development,christiaan-scott,colorado-school-of-medicine,deformed-big-toes,ellen-elias,fibrodysplasia-ossificans-prog,fop,genetics,ifopa,rare-disease,ultra-rare-condition,ultra-rare-genetic-disorderfalsefullhttps://www.spreaker.com/episode/progressive-familial-intrahepatic-cholestasis-pfic-diagnosing-treating-monitoring--65926708
PFIC encompasses a spectrum of autosomal recessive disorders characterized by impaired bile flow (cholestasis) due to defects in biliary epithelial transporters. These rare genetic conditions typically manifest in infancy or early childhood, leading to severe liver dysfunction and potentially life-threatening complications if left untreated. Common early symptoms observed in children with PFIC are jaundice, pruritus, elevated serum bile acid (SBA) values, malabsorption, and failure to thrive. PFIC can be a debilitating condition that significantly impacts the quality of life and can result in end-stage liver disease. As such, early detection and effective intervention are imperative for the prevention of disease progression. 

Unfortunately, there are no relevant guidelines based on newly published research to help healthcare providers manage patients with PFIC. However, a recent opinion paper by leading experts in the management of PFIC provides evidence-based guidance on this subject and was recently published in JHEP Reports. 

This educational program is made possible by an unrestricted grant from Ipsen.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/65926708Mon, 05 May 2025 20:08:44 +0000CheckRare EditorsThis educational program, hosted by Patrick McKiernan, MD, Pediatric Hepatologist at Birmingham Children's Hospital NHS Foundation Trust and Nadia Ovchinsky, MD, Professor of Medicine at NYU Grossman School of Medicine discuss the recently published...
PFIC encompasses a spectrum of autosomal recessive disorders characterized by impaired bile flow (cholestasis) due to defects in biliary epithelial transporters. These rare genetic conditions typically manifest in infancy or early childhood, leading to severe liver dysfunction and potentially life-threatening complications if left untreated. Common early symptoms observed in children with PFIC are jaundice, pruritus, elevated serum bile acid (SBA) values, malabsorption, and failure to thrive. PFIC can be a debilitating condition that significantly impacts the quality of life and can result in end-stage liver disease. As such, early detection and effective intervention are imperative for the prevention of disease progression. 

Unfortunately, there are no relevant guidelines based on newly published research to help healthcare providers manage patients with PFIC. However, a recent opinion paper by leading experts in the management of PFIC provides evidence-based guidance on this subject and was recently published in JHEP Reports. 

This educational program is made possible by an unrestricted grant from Ipsen.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>2437pfic,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/transforming-clinical-outcomes-with-early-treatment-of-lysosomal-disorders--65352013
Continuing Education Information
This continuing education activity is provided by AffinityCE and the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC). This activity provides continuing education credit for physicians. A statement of participation is available to other attendees.

To obtain credit, visit https://checkrare.com/learning/p-transforming-clinical-outcomes-with-early-treatment-of-lysosomal-disorders/ 

Faculty and Disclosures
AffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program.

Ozlem Goker-Alpan MD
Founder and CMO, Lysosomal & Rare Disorders Research & Treatment Centers
Dr. Goker-Alpan is on the Advisory Board/Consultant for Chiesi, Takeda, Sanofi, Prevail/Lilly, Sparks Therapeutics, Uniqure, Exegenesis, Astellas, Freeline, Team Sanfilippo. She receives grants/research support from Chiesi, Sanofi, Takeda, Prevail/Lilly, Spark Therapeutics, Amicus, Freeline, Sangamo, Cyclo, Odorsia, DMT, Homology, Protaliz. She is on the speaker bureau for Sanofi, Takeda, Amicus, Chiesi

David F. Kronn MD
Associate Professor of Pathology and Pediatrics                                                
New York Medical College
Dr. Kronn is on the Advisory Board for Sanofi. He is also on the speaker bureau for Sanofi. He receives research funding from Sanofi.

Uma Ramaswami FRCPCH, MD
Royal Free London Hospitals & Genetics and Genomic Medicine, University College London
Dr. Ramaswami is on the Advisory Board for Amicus, Chiesi, Sanofi and Takeda. She receives research grants from Chiesi and Intabio.

Liz Jalazo MD
Assistant Professor of Pediatrics and Genetics
University of North Carolina at Chapel Hill
Dr. Jalazo is on the Advisory Board for Sanofi and Ionis. 

Lindsay Torrice MSN, CPNP-PC MD
Assistant Professor of Pediatrics
University of North Carolina at Chapel Hill
Ms. Torrice has no financial relationships to disclose.

Mitigation of Relevant Financial Relationships
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible companies. All relevant financial relationships for faculty were mitigated by the peer review of content by non-conflicted reviewers before the commencement of the activity.

Learning Objectives
At the end of this activity, participants should be able to:
•     Cite the importance of early diagnosis and treatment of lysosomal storage disorders
•     List the guidelines for the early treatment of LDs and enhanced integration of newborn screening programs
•     Identify key research gaps and priorities and strengthen collaboration among researchers and healthcare professionals
•     List the educational resources and support programs for families

Physicians
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.
AffinityCE designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other Professionals
All other healthcare professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity.

Commercial Support
This activity was supported by educational grants from Takeda, Sanofi, and Chiesi.

Participation Costs
There is no cost to participate in this activity.
 
CME Inquiries
For all CME policy-related inquiries, please contact us at ce@affinityced.com.
Send customer support requests to cds_support+ldrtc@affinityced.com.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/65352013Fri, 04 Apr 2025 18:02:17 +0000CheckRare EditorsThis CME program provides information on best practices to manage children with lysosomal disorders who have been identified by newborn screening. WIth the wide range of symptoms and severities that present for these rare conditions, it is not always...
Continuing Education Information
This continuing education activity is provided by AffinityCE and the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC). This activity provides continuing education credit for physicians. A statement of participation is available to other attendees.

To obtain credit, visit https://checkrare.com/learning/p-transforming-clinical-outcomes-with-early-treatment-of-lysosomal-disorders/ 

Faculty and Disclosures
AffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program.

Ozlem Goker-Alpan MD
Founder and CMO, Lysosomal & Rare Disorders Research & Treatment Centers
Dr. Goker-Alpan is on the Advisory Board/Consultant for Chiesi, Takeda, Sanofi, Prevail/Lilly, Sparks Therapeutics, Uniqure, Exegenesis, Astellas, Freeline, Team Sanfilippo. She receives grants/research support from Chiesi, Sanofi, Takeda, Prevail/Lilly, Spark Therapeutics, Amicus, Freeline, Sangamo, Cyclo, Odorsia, DMT, Homology, Protaliz. She is on the speaker bureau for Sanofi, Takeda, Amicus, Chiesi

David F. Kronn MD
Associate Professor of Pathology and Pediatrics                                                
New York Medical College
Dr. Kronn is on the Advisory Board for Sanofi. He is also on the speaker bureau for Sanofi. He receives research funding from Sanofi.

Uma Ramaswami FRCPCH, MD
Royal Free London Hospitals & Genetics and Genomic Medicine, University College London
Dr. Ramaswami is on the Advisory Board for Amicus, Chiesi, Sanofi and Takeda. She receives research grants from Chiesi and Intabio.

Liz Jalazo MD
Assistant Professor of Pediatrics and Genetics
University of North Carolina at Chapel Hill
Dr. Jalazo is on the Advisory Board for Sanofi and Ionis. 

Lindsay Torrice MSN, CPNP-PC MD
Assistant Professor of Pediatrics
University of North Carolina at Chapel Hill
Ms. Torrice has no financial relationships to disclose.

Mitigation of Relevant Financial Relationships
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible companies. All relevant financial relationships for faculty were mitigated by the peer review of content by non-conflicted reviewers before the commencement of the activity.

Learning Objectives
At the end of this activity, participants should be able to:
•     Cite the importance of early diagnosis and treatment of lysosomal storage disorders
•     List the guidelines for the early treatment of LDs and enhanced integration of newborn screening programs
•     Identify key research gaps and priorities and strengthen collaboration among researchers and healthcare professionals
•     List the educational resources and support programs for families

Physicians
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical...]]>3610lysosomal,rare-diseases,rare-disordersfalsefullhttps://www.spreaker.com/episode/pah-research-highlights-chest-2024--64763682
PAH is a rare, progressive disorder characterized by high blood pressure in the pulmonary arteries. Symptoms of PAH include shortness of breath (dyspnea) especially during exercise, chest pain, and fainting episodes. The progressive nature of this disease means that an individual may experience only mild symptoms at first, but will eventually require treatment and medical care to maintain a reasonable quality of life. There are numerous treatment options and options in development for persons with PAH and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research. 



Target Audience
This activity has been designed to meet the educational needs of physicians specializing in pulmonology, cardiology, rheumatology, and radiology. Other members of the care team may also participate.

Learning Objectives
Describe the latest research being presented to better manage people with PAH and its clinical relevance.

CME Credit
To obtain credit, visit https://checkrare.com/learning/p-pah-clinical-research-highlights-chest-2024/

Faculty/ Disclosure
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Dr. Elwing discloses the following relevant financial relationships with ineligible companies:
Advisory Board Consultant: United Therapeutics, Aerovate Therapeutics, Gossamer Bio, Liquidia, Merck, Janssen/Actelion/Johnson & Johnson, Lung LLC, Pulmovant

Grant/Research Support: United Therapeutics, Gossamer Bio, Bayer, Acceleron/Merck, Altavant Sciences, Aerovate Therapeutics, Pharmosa Biopharm/Liquidia, Actelion/Janssen/Johnson & Johnson, Lung LLC, Pulmovant

Speaking Honorarium: United Therapeutics

Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically and draw conclusions only after careful consideration of all available scientific information.

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of participation.

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact
Please contact: CEServices@academycme.org for any comments or questions.;

Copyright © 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/64763682Sat, 08 Mar 2025 13:11:38 +0000CheckRare EditorsThis CME program, hosted by Jean Elwing, MD, of the University of Cincinnati College of Medicine provides an overview of the latest clinical research about PAH presented at CHEST 2024. PAH is a rare, progressive disorder characterized by high blood...
PAH is a rare, progressive disorder characterized by high blood pressure in the pulmonary arteries. Symptoms of PAH include shortness of breath (dyspnea) especially during exercise, chest pain, and fainting episodes. The progressive nature of this disease means that an individual may experience only mild symptoms at first, but will eventually require treatment and medical care to maintain a reasonable quality of life. There are numerous treatment options and options in development for persons with PAH and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research. 



Target Audience
This activity has been designed to meet the educational needs of physicians specializing in pulmonology, cardiology, rheumatology, and radiology. Other members of the care team may also participate.

Learning Objectives
Describe the latest research being presented to better manage people with PAH and its clinical relevance.

CME Credit
To obtain credit, visit https://checkrare.com/learning/p-pah-clinical-research-highlights-chest-2024/

Faculty/ Disclosure
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Dr. Elwing discloses the following relevant financial relationships with ineligible companies:
Advisory Board Consultant: United Therapeutics, Aerovate Therapeutics, Gossamer Bio, Liquidia, Merck, Janssen/Actelion/Johnson & Johnson, Lung LLC, Pulmovant

Grant/Research Support: United Therapeutics, Gossamer Bio, Bayer, Acceleron/Merck, Altavant Sciences, Aerovate Therapeutics, Pharmosa Biopharm/Liquidia, Actelion/Janssen/Johnson & Johnson, Lung LLC, Pulmovant

Speaking Honorarium: United Therapeutics

Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically and draw conclusions only after careful consideration of all available scientific information.

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of...]]>2200falsefullhttps://www.spreaker.com/episode/consider-rare-suspecting-and-diagnosing-hereditary-angioedema-hae--64754252This program is supported by independent medical education grants from Takeda. 

To earn CME credit please visit https://checkrare.com/learning/p-consider-rare-suspecting-and-diagnosing-hereditary-angioedema/lessons/consider-rare-suspecting-and-diagnosing-hereditary-angioedema-module/  

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in primary care, pediatrics, emergency care, otolaryngology, gastroenterology, and dermatology .Other members of the care team may also participate.
Learning Objectives
After participating in the activity, learners should be better able to:
- Describe the early symptoms of HAE and its clinical relevance.
- Apply best practices to diagnose HAE more efficiently to reduce diagnostic delays.
 
Faculty 
Jonathan A Bernstein, MD
Professor of Medicine
University of Cincinnati 
Department of Internal Medicine
Division of Immunology, Allergy Section
Partner Advanced Allergy Services, LLC
Partner Bernstein Clinical Research Center
 
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Dr. Bernstein discloses the following relevant financial relationships with ineligible companies:
Advisory Board Consultant: Takeda/Shire, CSL Behring, KalVista, Pharming, Biocryst, Ionis, Intellia, Pharvaris, Astria and Biomarin

Grant/Research Support: Takeda/Shire, CSL Behring, KalVista, Pharming, Biocryst, Ionis, Intellia, Pharvaris, Astria and Biomari

Speaker’s Bureau: Pharming

Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation

In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of participation.
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.

Contact
For any questions, please contact: CEServices@academycme.org

Copyright
© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/64754252Fri, 07 Mar 2025 20:20:39 +0000CheckRare EditorsHereditary angioedema (HAE) is a rare condition often due to reduced levels C1-inhibitor, which is a protein involved in various physiological processes in plasma, most notably with the complement system. C1-inhibitor also binds and inhibits plasma...This program is supported by independent medical education grants from Takeda. 

To earn CME credit please visit https://checkrare.com/learning/p-consider-rare-suspecting-and-diagnosing-hereditary-angioedema/lessons/consider-rare-suspecting-and-diagnosing-hereditary-angioedema-module/  

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in primary care, pediatrics, emergency care, otolaryngology, gastroenterology, and dermatology .Other members of the care team may also participate.
Learning Objectives
After participating in the activity, learners should be better able to:
- Describe the early symptoms of HAE and its clinical relevance.
- Apply best practices to diagnose HAE more efficiently to reduce diagnostic delays.
 
Faculty 
Jonathan A Bernstein, MD
Professor of Medicine
University of Cincinnati 
Department of Internal Medicine
Division of Immunology, Allergy Section
Partner Advanced Allergy Services, LLC
Partner Bernstein Clinical Research Center
 
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Dr. Bernstein discloses the following relevant financial relationships with ineligible companies:
Advisory Board Consultant: Takeda/Shire, CSL Behring, KalVista, Pharming, Biocryst, Ionis, Intellia, Pharvaris, Astria and Biomarin

Grant/Research Support: Takeda/Shire, CSL Behring, KalVista, Pharming, Biocryst, Ionis, Intellia, Pharvaris, Astria and Biomari

Speaker’s Bureau: Pharming

Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation

In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
1477falsefullhttps://www.spreaker.com/episode/improving-health-equity-in-hereditary-angioedema-hae-a-panel-discussion--63877710
Hereditary angioedema (HAE) is a rare genetic disease that results in immunologic attacks that can be life-threatening. HAE is the result of reduced levels of C1-inhibitor, a protein involved in various physiological processes in plasma, most notably with the complement system. C1-inhibitor also binds and inhibits plasma kallikrein and factor XIa, thereby affecting bradykinin production. It is believed that the disruptions of these processes lead to fluid leaking from the blood to connective tissue which leads to HAE attacks. It is these HAE attacks that tend to put persons in the emergency department or unable to attend work or school.

Numerous therapies are now available for patients with HAE to both treat acute attacks and prevent attacks via prophylactic treatment.

With so many treatment options now available, is it disheartening to learn that not all patients with HAE are receiving equal care or access to care. Patients with HAE living in rural areas as patients from underrepresented racial or ethnic backgrounds are not provided the same level of care as patients, especially Caucasian patients,  living in more affluent areas. 

This panel discussion by three clinical research leaders in HAE, Drs. Aleena Banerji, Timothy Craig, and Marc Riedl, provide an overview of the discrepancies in care observed in certain patient populations, as well as a discussion on best practices to reduce those inequalities moving forward.

To view this program in video format, go to https://checkrare.com/improving-health-equity-in-hereditary-angioedema-hae-a-panel-discussion/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/63877710Mon, 27 Jan 2025 12:47:15 +0000CheckRare EditorsThis educational program is made possible by an unrestricted grant from Takeda Pharmaceuticals. Hereditary angioedema (HAE) is a rare genetic disease that results in immunologic attacks that can be life-threatening. HAE is the result of reduced...
Hereditary angioedema (HAE) is a rare genetic disease that results in immunologic attacks that can be life-threatening. HAE is the result of reduced levels of C1-inhibitor, a protein involved in various physiological processes in plasma, most notably with the complement system. C1-inhibitor also binds and inhibits plasma kallikrein and factor XIa, thereby affecting bradykinin production. It is believed that the disruptions of these processes lead to fluid leaking from the blood to connective tissue which leads to HAE attacks. It is these HAE attacks that tend to put persons in the emergency department or unable to attend work or school.

Numerous therapies are now available for patients with HAE to both treat acute attacks and prevent attacks via prophylactic treatment.

With so many treatment options now available, is it disheartening to learn that not all patients with HAE are receiving equal care or access to care. Patients with HAE living in rural areas as patients from underrepresented racial or ethnic backgrounds are not provided the same level of care as patients, especially Caucasian patients,  living in more affluent areas. 

This panel discussion by three clinical research leaders in HAE, Drs. Aleena Banerji, Timothy Craig, and Marc Riedl, provide an overview of the discrepancies in care observed in certain patient populations, as well as a discussion on best practices to reduce those inequalities moving forward.

To view this program in video format, go to https://checkrare.com/improving-health-equity-in-hereditary-angioedema-hae-a-panel-discussion/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>3697angiodema,banerji,craig,hae,health-equity-in-hereditary-an,hereditary,riedlfalsefullhttps://www.spreaker.com/episode/optimizing-therapeutic-proteins-through-pegylation-key-parameters-and-impacts--63738075João Gonçalves
Faculty of Pharmacy
University of Lisbon
Lisbon, Portugal

Paolo Caliceti
Department of Pharmaceutical and Pharmacological Sciences
University of Padova
Padova, Italy

What Is PEGylation and Why Is It Important?
We will begin by examining the clinical uses of therapeutic proteins, and their applications in healthcare. Next, we will discuss the inherent limitations of therapeutic proteins, including challenges such as pharmacokinetic (PK) profiles, protein aggregation during storage, and potential immune responses. The session will then delve into the process of PEGylation, where polyethylene glycol (PEG) is conjugated to functional amino acid groups on the protein surface. This modification may enhance the properties of therapeutic proteins, offering advantages in stability, half-life, and immunogenicity.

Biopharmaceutical and Immunological Properties of PEGylated Proteins
We will explore the biopharmaceutical and immunological properties of PEGylated proteins, focusing on how their unique structure and composition impact their function. We will discuss how each PEGylated protein has distinct properties based on PEG architecture, molecular weight and degree of conjugation that cannot be generalized across different pegylated molecules, highlighting the variability in pharmacokinetic (PK) characteristics such as half-life, absorption, distribution, and elimination. These factors can significantly influence clinical outcomes, including dosing intervals and overall therapeutic effectiveness. We will also address the potential clinical advantages and limitations of PEGylation, with real-world examples to illustrate how these proteins are used in practice.

Immunogenicity Considerations of PEGylated Proteins
We will explore the immunogenicity of PEGylated proteins, examining both the potential benefits and risks associated with PEG modification. While PEGylation can trigger immune responses against PEG itself or the PEGylated protein, it can also help mask epitopes and reduce anti-drug antibodies formation. Drug- and patient-related factors that influence immunogenicity risk will also be covered, along with the prevalence and impact of pre-existing anti-drug antibodies (ADAs).We will discuss the potential clinical consequences of immune reactions to PEG or PEGylated proteins, and how the risk of such responses can vary depending on the unique properties of each PEGylated protein. The session will also address strategies to mitigate anti-PEG immunogenicity, as well as approaches for monitoring immunogenicity across different stages of drug development—from preclinical studies to post-marketing surveillance. Additionally, we will explore tools that may help predict therapeutic responses to PEGylated proteins, touching on potential areas for future research.

Discussion and Conclusion
By the end of the session, participants will gain a comprehensive understanding of:

• How PEGylation represents a major technological advancement in the development and optimization of therapeutic proteins.
• How PEGylation affects both the biopharmaceutical properties and clinical applications of therapeutic proteins
• Immunogenicity in the context of PEGylated proteins and the strategies used to manage and predict immune responses.
• The role of PEGylation in therapeutic outcomes and the future opportunities for innovation in this field.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/63738075Sat, 18 Jan 2025 12:44:23 +0000CheckRare EditorsJoão Gonçalves Faculty of Pharmacy University of Lisbon Lisbon, Portugal Paolo Caliceti Department of Pharmaceutical and Pharmacological Sciences University of Padova Padova, Italy What Is PEGylation and Why Is It Important? We will begin by...João Gonçalves
Faculty of Pharmacy
University of Lisbon
Lisbon, Portugal

Paolo Caliceti
Department of Pharmaceutical and Pharmacological Sciences
University of Padova
Padova, Italy

What Is PEGylation and Why Is It Important?
We will begin by examining the clinical uses of therapeutic proteins, and their applications in healthcare. Next, we will discuss the inherent limitations of therapeutic proteins, including challenges such as pharmacokinetic (PK) profiles, protein aggregation during storage, and potential immune responses. The session will then delve into the process of PEGylation, where polyethylene glycol (PEG) is conjugated to functional amino acid groups on the protein surface. This modification may enhance the properties of therapeutic proteins, offering advantages in stability, half-life, and immunogenicity.

Biopharmaceutical and Immunological Properties of PEGylated Proteins
We will explore the biopharmaceutical and immunological properties of PEGylated proteins, focusing on how their unique structure and composition impact their function. We will discuss how each PEGylated protein has distinct properties based on PEG architecture, molecular weight and degree of conjugation that cannot be generalized across different pegylated molecules, highlighting the variability in pharmacokinetic (PK) characteristics such as half-life, absorption, distribution, and elimination. These factors can significantly influence clinical outcomes, including dosing intervals and overall therapeutic effectiveness. We will also address the potential clinical advantages and limitations of PEGylation, with real-world examples to illustrate how these proteins are used in practice.

Immunogenicity Considerations of PEGylated Proteins
We will explore the immunogenicity of PEGylated proteins, examining both the potential benefits and risks associated with PEG modification. While PEGylation can trigger immune responses against PEG itself or the PEGylated protein, it can also help mask epitopes and reduce anti-drug antibodies formation. Drug- and patient-related factors that influence immunogenicity risk will also be covered, along with the prevalence and impact of pre-existing anti-drug antibodies (ADAs).We will discuss the potential clinical consequences of immune reactions to PEG or PEGylated proteins, and how the risk of such responses can vary depending on the unique properties of each PEGylated protein. The session will also address strategies to mitigate anti-PEG immunogenicity, as well as approaches for monitoring immunogenicity across different stages of drug development—from preclinical studies to post-marketing surveillance. Additionally, we will explore tools that may help predict therapeutic responses to PEGylated proteins, touching on potential areas for future research.

Discussion and Conclusion
By the end of the session, participants will gain a comprehensive understanding of:

• How PEGylation represents a major technological advancement in the development and optimization of therapeutic proteins.
• How PEGylation affects both the biopharmaceutical properties and clinical applications of therapeutic proteins
• Immunogenicity in the context of PEGylated proteins and the strategies used to manage and predict immune responses.
• The role of PEGylation in therapeutic outcomes and the future opportunities for innovation in this field.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news,...]]>3701fabry,gaucher,lysosomal,pegylationfalsefullhttps://www.spreaker.com/episode/hematologic-malignancies-and-clinical-trial-participations-a-shared-decision-making-approach--63029965Jointly Provided by American Academy of CME and CheckRare CE.

Support for this accredited continuing education activity has been made possible through educational grant from Merck.

Estimated time to complete: 0.5 hours
 
Start date: November 30, 2024
End date: November 30, 2025
  
Activity Faculty
John Kuruvilla, MD
Hematologist / Clinical Investigator
Princess Margaret Cancer Centre
Professor of Medicine
University of Toronto
 
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in hematology-oncology. Other healthcare providers, including NPs and PAs, may also participate.
 
Learning Objectives
After participating in the activity, learners should be better able to
- Describe the importance of clinical trials in furthering the science of hematologic malignancies treatment.

- Describe and utilize best practices for engaging patients in shared decision making regarding clinical trial participation.
 
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
 
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
 
Other HCPs
Other members of the care team will receive a certificate of participation.
 
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
 
Faculty Educator/Planner
Dr. Kuruvilla discloses the following relevant financial relationships with ineligible companies:
Honoraria: AbbVie, Amgen, AstraZeneca, Bristol Myers Squibb, Beigene, Genmab, Gilead Sciences, GlaxoSmithKline, Incyte, Janssen, Karyopharm, Merck, Novartis, Pfizer, Roche, Seattle Genetics
Consultant: AbbVie, Bristol Myers Squibb, Gilead Sciences/Kite, Merck, Roche, Seattle Genetics
Grant/Research Support: AstraZeneca, Kite, Merck, Novartis, Roche
Data Safety Monitoring Board: Karyopharm
Planners for this activity have no relevant financial relationships with any ineligible companies.
 
This activity will not review off-label or investigational information.
 
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
 
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please go to https://checkrare.com/learning/p-hematologic-malignancies-and-clinical-trial-participation-a-shared-decision-making-approach/  
 
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact
For any questions, please contact: CEServices@academycme.org
               


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/63029965Wed, 27 Nov 2024 13:30:09 +0000CheckRare EditorsThis 30-minute CME-accredited program, hosted by John Kuruvilla, MD, discusses best practices for talking to patients with hematologic malignancies about possibly participating in clinical trials. Jointly Provided by American Academy of CME and...Jointly Provided by American Academy of CME and CheckRare CE.

Support for this accredited continuing education activity has been made possible through educational grant from Merck.

Estimated time to complete: 0.5 hours
 
Start date: November 30, 2024
End date: November 30, 2025
  
Activity Faculty
John Kuruvilla, MD
Hematologist / Clinical Investigator
Princess Margaret Cancer Centre
Professor of Medicine
University of Toronto
 
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in hematology-oncology. Other healthcare providers, including NPs and PAs, may also participate.
 
Learning Objectives
After participating in the activity, learners should be better able to
- Describe the importance of clinical trials in furthering the science of hematologic malignancies treatment.

- Describe and utilize best practices for engaging patients in shared decision making regarding clinical trial participation.
 
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
 
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
 
Other HCPs
Other members of the care team will receive a certificate of participation.
 
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
 
Faculty Educator/Planner
Dr. Kuruvilla discloses the following relevant financial relationships with ineligible companies:
Honoraria: AbbVie, Amgen, AstraZeneca, Bristol Myers Squibb, Beigene, Genmab, Gilead Sciences, GlaxoSmithKline, Incyte, Janssen, Karyopharm, Merck, Novartis, Pfizer, Roche, Seattle Genetics
Consultant: AbbVie, Bristol Myers Squibb, Gilead Sciences/Kite, Merck, Roche, Seattle Genetics
Grant/Research Support: AstraZeneca, Kite, Merck, Novartis, Roche
Data Safety Monitoring Board: Karyopharm
Planners for this activity have no relevant financial relationships with any ineligible companies.
 
This activity will not review off-label or investigational information.
 
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
 2067clinical-trial-participations,hematologic-malignancies,rare-diseases,rare-disordersfalsefullhttps://www.spreaker.com/episode/fcrn-and-myasthenia-gravis--62658321Jointly Provided by American Academy of CME Inc and CheckRare CE Inc.
Support for this accredited continuing education activity has been made possible through an educational grant from argenx US Inc. and UCB.
Estimated time to complete: 0.50 hours

Start date: November 7, 2024
End date: November 6, 2025

This half-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, explains the role of  neonatal fragment crystallizable receptor (FcRn) in myasthenia gravis (MG) and how treatments that target FcRn are being used to manage patients with MG.

To obtain credit, visit https://checkrare.com/learning/p-fcrn-and-myasthenia-gravis/ 

Activity Faculty
Richard J. Nowak, MD, MS
Director, Program in Clinical & Translational Neuromuscular Research (CTNR) 
Director, Yale Myasthenia Gravis Clinic 
Associate Professor of Neurology 
Division of Neuromuscular Medicine
Department of Neurology 
Yale School of Medicine 
New Haven, CT

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology and ophthalmology who may be involved in the diagnosis and care of individuals with MG. Other healthcare providers, including neurology NPs and PAs, may also participate. 

Learning Objectives
After participating in the activity, learners should be better able to
Describe the role of FcRn in MG.
Describe the efficacy of the treatment options for MG that target FcRn.
Compare the safety of the treatment options for MG that target FcRn.


Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Dr. Nowak discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB
Grant/Research Support: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. 

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity.  Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.

Hardware/Software Requirements 
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact
For any questions, please contact: CEServices@academycme.org

Copyright
© 2024. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s). 

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/62658321Thu, 07 Nov 2024 22:13:45 +0000CheckRare EditorsJointly Provided by American Academy of CME Inc and CheckRare CE Inc. Support for this accredited continuing education activity has been made possible through an educational grant from argenx US Inc. and UCB. Estimated time to complete: 0.50 hours...Jointly Provided by American Academy of CME Inc and CheckRare CE Inc.
Support for this accredited continuing education activity has been made possible through an educational grant from argenx US Inc. and UCB.
Estimated time to complete: 0.50 hours

Start date: November 7, 2024
End date: November 6, 2025

This half-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, explains the role of  neonatal fragment crystallizable receptor (FcRn) in myasthenia gravis (MG) and how treatments that target FcRn are being used to manage patients with MG.

To obtain credit, visit https://checkrare.com/learning/p-fcrn-and-myasthenia-gravis/ 

Activity Faculty
Richard J. Nowak, MD, MS
Director, Program in Clinical & Translational Neuromuscular Research (CTNR) 
Director, Yale Myasthenia Gravis Clinic 
Associate Professor of Neurology 
Division of Neuromuscular Medicine
Department of Neurology 
Yale School of Medicine 
New Haven, CT

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology and ophthalmology who may be involved in the diagnosis and care of individuals with MG. Other healthcare providers, including neurology NPs and PAs, may also participate. 

Learning Objectives
After participating in the activity, learners should be better able to
Describe the role of FcRn in MG.
Describe the efficacy of the treatment options for MG that target FcRn.
Compare the safety of the treatment options for MG that target FcRn.


Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Dr. Nowak discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB
Grant/Research Support: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. 

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines....]]>2039falsefullhttps://www.spreaker.com/episode/fcrn-and-myasthenia-gravis-pathophysiology--62658163Jointly Provided by American Academy of CME Inc and CheckRare CE Inc.
Support for this accredited continuing education activity has been made possible through an educational grant from argenx US Inc.and UCB.

Estimated time to complete: 0.25 hours

Start date: November 7, 2024
End date: November 6, 2025

This quarter-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, explains the role of  neonatal fragment crystallizable receptor (FcRn) in myasthenia gravis (MG).

To obtain CME credit, visit https://checkrare.com/learning/p-fcrn-and-myasthenia-gravis-pathophysiology/ 


Activity Faculty
Richard J. Nowak, MD, MS
Director, Program in Clinical & Translational Neuromuscular Research (CTNR) 
Director, Yale Myasthenia Gravis Clinic 
Associate Professor of Neurology 
Division of Neuromuscular Medicine
Department of Neurology 
Yale School of Medicine 
New Haven, CT

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology and ophthalmology who may be involved in the diagnosis and care of individuals with MG. Other healthcare providers, including neurology NPs and PAs, may also participate. 

Learning Objectives
After participating in the activity, learners should be better able to
Describe the role of FcRn in MG.

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:

Faculty Educator
Dr. Nowak discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB
Grant/Research Support: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. 

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity.  Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.

Hardware/Software Requirements 
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection.
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org

Copyright
© 2024. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s). 

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/62658163Thu, 07 Nov 2024 22:05:52 +0000CheckRare EditorsJointly Provided by American Academy of CME Inc and CheckRare CE Inc. Support for this accredited continuing education activity has been made possible through an educational grant from argenx US Inc.and UCB. Estimated time to complete: 0.25 hours...Jointly Provided by American Academy of CME Inc and CheckRare CE Inc.
Support for this accredited continuing education activity has been made possible through an educational grant from argenx US Inc.and UCB.

Estimated time to complete: 0.25 hours

Start date: November 7, 2024
End date: November 6, 2025

This quarter-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, explains the role of  neonatal fragment crystallizable receptor (FcRn) in myasthenia gravis (MG).

To obtain CME credit, visit https://checkrare.com/learning/p-fcrn-and-myasthenia-gravis-pathophysiology/ 


Activity Faculty
Richard J. Nowak, MD, MS
Director, Program in Clinical & Translational Neuromuscular Research (CTNR) 
Director, Yale Myasthenia Gravis Clinic 
Associate Professor of Neurology 
Division of Neuromuscular Medicine
Department of Neurology 
Yale School of Medicine 
New Haven, CT

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology and ophthalmology who may be involved in the diagnosis and care of individuals with MG. Other healthcare providers, including neurology NPs and PAs, may also participate. 

Learning Objectives
After participating in the activity, learners should be better able to
Describe the role of FcRn in MG.

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:

Faculty Educator
Dr. Nowak discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB
Grant/Research Support: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. 

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of...]]>788crystallizable,fcrn,fragment,gravis,myasthenia,neonatal,neonatal-fragment-crystalizabl,rare-disease,rare-disorder,receptorfalsefullhttps://www.spreaker.com/episode/fcrn-and-myasthenia-gravis-treatment-options--62656125Jointly Provided by the American Academy of CME and CheckRare CE Inc.
Support for this accredited continuing education activity has been made possible through educational grant from argenx US Inc. and UCB.

Estimated time to complete: 0.25 hours

Start date: November 7, 2024
End date: November 6, 2025

This quarter-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, discusses the safety and efficacy of neonatal fragment crystallizable receptor (FcRn)-directed therapies for patient with myasthenia gravis.

To obtain CME credit, visit https://checkrare.com/learning/p-fcrn-and-myasthenia-gravis-treatment-options/ 

Activity Faculty
Richard J. Nowak, MD, MS
Director, Program in Clinical & Translational Neuromuscular Research (CTNR) 
Director, Yale Myasthenia Gravis Clinic 
Associate Professor of Neurology 
Division of Neuromuscular Medicine
Department of Neurology 
Yale School of Medicine 
New Haven, CT

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology and ophthalmology who may be involved in the diagnosis and care of individuals with MG. Other healthcare providers, including neurology NPs and PAs, may also participate. 

Learning Objectives
After participating in the activity, learners should be better able to
Describe the efficacy of the treatment options for MG that target FcRn.
Compare the safety of the treatment options for MG that target FcRn.


Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Dr. Nowak discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB
Grant/Research Support: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. 

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity.  Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.

Hardware/Software Requirements 
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact
For any questions, please contact: CEServices@academycme.org

Copyright
© 2024. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s). 

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/62656125Thu, 07 Nov 2024 22:04:36 +0000CheckRare EditorsJointly Provided by the American Academy of CME and CheckRare CE Inc. Support for this accredited continuing education activity has been made possible through educational grant from argenx US Inc. and UCB. Estimated time to complete: 0.25 hours...Jointly Provided by the American Academy of CME and CheckRare CE Inc.
Support for this accredited continuing education activity has been made possible through educational grant from argenx US Inc. and UCB.

Estimated time to complete: 0.25 hours

Start date: November 7, 2024
End date: November 6, 2025

This quarter-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, discusses the safety and efficacy of neonatal fragment crystallizable receptor (FcRn)-directed therapies for patient with myasthenia gravis.

To obtain CME credit, visit https://checkrare.com/learning/p-fcrn-and-myasthenia-gravis-treatment-options/ 

Activity Faculty
Richard J. Nowak, MD, MS
Director, Program in Clinical & Translational Neuromuscular Research (CTNR) 
Director, Yale Myasthenia Gravis Clinic 
Associate Professor of Neurology 
Division of Neuromuscular Medicine
Department of Neurology 
Yale School of Medicine 
New Haven, CT

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology and ophthalmology who may be involved in the diagnosis and care of individuals with MG. Other healthcare providers, including neurology NPs and PAs, may also participate. 

Learning Objectives
After participating in the activity, learners should be better able to
Describe the efficacy of the treatment options for MG that target FcRn.
Compare the safety of the treatment options for MG that target FcRn.


Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Dr. Nowak discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB
Grant/Research Support: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. 

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented...]]>1234myasthenia-gravis,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/cushing-s-syndrome-treatment-research-highlights-endo-2024continuing-education--62133681https://checkrare.com/learning/p-cushings-syndrome-treatment-research-highlights-endo-2024/

Commercial Support
Educational Support for this activity was provided by Recordati Rare Diseases, Inc., and Xeris Pharmaceuticals.

Learning Objective
After participating in the activity, learners should be better able to:

• Describe the latest research being presented to better manage individuals with Cushing’s syndrome and its clinical relevance.
• Share new information with their clinical team. 

Activity Description
This 30-minute CME program highlights the latest clinical research about Cushing’s syndrome and Cushing’ disease.Cushing’s syndrome is rare endocrine disorder characterized by chronic hypercortisolism. It is often due to a pituitary adenoma producing excessive ACTH leading to hypercortisolism. Symptoms can range from mild to extensive.This CME program, hosted by Maria Fleseriu, MD, FACE, Professor of Medicine and Neurological Surgery, Director of the Pituitary Center at Oregon Health & Science University, provides an overview of the latest clinical research presented at ENDO 20234 involving Cushing’s syndrome. 

Faculty
Maria Fleseriu, MD, FACE
Professor of Medicine and Neurological Surgery
Director of Pituitary Center
Oregon Health & Science University
Portland, Oregon


Disclosure Statement
AffinityCE and CheckRare CE staff, as well as planning and review committees, have no financial interests to disclose. 

Faculty Educators
Dr. Fleseriu discloses the following relevant financial relationships with ineligible companies to disclose:

• Funding to the University as Principle Investigator from Sparrow Pharmaceuticals
• Scientific consultant for Crinetics Pharmaceuticals, Recordati Rare Diseases, Sparrow Pharmaceuticals, and Xeris Pharmaceuticals

Mitigation of Relevant Financial Relationships 
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible companies. Method of ParticipationThere are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre- and post-program assessments. Your certificate will be emailed to you in within 30 days.

Participation Costs
There is no cost to participate in this CME session. To receive CME credit for your participation, please complete the pre- and post-program assessments. Your certificate will be emailed to you in within 30 days.

CME Inquiries
For all CME policy-related inquiries, please contact us at ce@affinityced.com.
Send customer support requests to cds_support+ldrtc@affinityced.com.

Copyright© 2024. This CME-certified activity is held as copyrighted © by AffinityCE and CheckRare CE. Through this notice, AffinityCE and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s). 

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/62133681Mon, 30 Sep 2024 17:05:25 +0000CheckRare EditorsThis continuing education activity is provided by AffinityCE and CheckRare CE. This activity provides continuing education credit for physicians. A statement of participation is available for other attendees. Estimated time to complete: 0.50 hoursTo...https://checkrare.com/learning/p-cushings-syndrome-treatment-research-highlights-endo-2024/

Commercial Support
Educational Support for this activity was provided by Recordati Rare Diseases, Inc., and Xeris Pharmaceuticals.

Learning Objective
After participating in the activity, learners should be better able to:

• Describe the latest research being presented to better manage individuals with Cushing’s syndrome and its clinical relevance.
• Share new information with their clinical team. 

Activity Description
This 30-minute CME program highlights the latest clinical research about Cushing’s syndrome and Cushing’ disease.Cushing’s syndrome is rare endocrine disorder characterized by chronic hypercortisolism. It is often due to a pituitary adenoma producing excessive ACTH leading to hypercortisolism. Symptoms can range from mild to extensive.This CME program, hosted by Maria Fleseriu, MD, FACE, Professor of Medicine and Neurological Surgery, Director of the Pituitary Center at Oregon Health & Science University, provides an overview of the latest clinical research presented at ENDO 20234 involving Cushing’s syndrome. 

Faculty
Maria Fleseriu, MD, FACE
Professor of Medicine and Neurological Surgery
Director of Pituitary Center
Oregon Health & Science University
Portland, Oregon


Disclosure Statement
AffinityCE and CheckRare CE staff, as well as planning and review committees, have no financial interests to disclose. 

Faculty Educators
Dr. Fleseriu discloses the following relevant financial relationships with ineligible companies to disclose:

• Funding to the University as Principle Investigator from Sparrow Pharmaceuticals
• Scientific consultant for Crinetics Pharmaceuticals, Recordati Rare Diseases, Sparrow Pharmaceuticals, and Xeris Pharmaceuticals

Mitigation of Relevant Financial Relationships 
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible companies. Method of ParticipationThere are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre- and post-program assessments. Your certificate will be emailed to you in within 30 days.

Participation Costs
There is no cost to participate in this CME session. To receive CME credit for your participation, please complete the pre- and post-program assessments. Your certificate will be emailed to you in within 30 days.

CME Inquiries
For all CME policy-related inquiries, please contact us at ce@affinityced.com.
Send customer support requests to cds_support+ldrtc@affinityced.com.

Copyright© 2024. This CME-certified activity is held as copyrighted © by AffinityCE and CheckRare CE. Through this notice, AffinityCE and CheckRare CE grant permission of its use for...]]>1984falsefullhttps://www.spreaker.com/episode/ctcl-shortening-the-diagnostic-journey-and-starting-treatment-early--60793533
The diagnosis of CTCL is often challenging; as a result, delays in diagnosis (and subsequent work-up and treatment) can be significant. Part of the reason is the variability in how individual patients present with CTCL and its subtypes. Because mycosis fungoides progresses slowly, some patients may not experience progression beyond their initial symptoms, even beyond 10 years. Patients with mycosis fungoides or Sézary syndrome also have overlap in manifestations; in fact, Sézary syndrome was once classified as a malignant, leukemic variant of mycosis fungoides but is now recognized as a distinct CTCL subtype.

Patients with mycosis fungoides may progress through three phases of skin symptoms. The first may feature little more than transient red, scaly areas of skin on the buttocks and torso. The plaques may be hyper- or hypopigmented. As such, these symptoms can be easily misidentified as common skin conditions such as eczema or psoriasis. The variability of signs and symptoms also adds to the challenge of making a timely, clear-cut diagnosis.

In the second phase, patients with progressing disease may develop palpable, scaly, reddish-brown plaques that appear on any portion of the body. Over time, the affected areas of skin may grow, merging with other affected regions. Patients’ skin presentation during this stage can vary considerably: Some patients may experience severe pruritus or pain in these scaly bumps, which can result in sleep disturbances and other challenges to quality of life. Other patients may remain asymptomatic other than the skin’s appearance.

Disease presentation is a bit more consistent in patients who have progressed to the third phase of skin symptoms. Some patients may develop mushroom-shaped skin tumors that can cause skin ulceration and infection. Even for patients with mycosis fungoides reaching this phase of skin progression, malignant spread is uncommon (only 10% will experience metastases to major organs).
While patients with Stage III mycosis fungoides experience widespread erythema (over 80% of body surface area), erythroderma is a consistent feature of Sézary syndrome. This rash will often be associated with severe pruritus and peeling.

In addition to erythroderma and B2 blood involvement, patients with Sézary syndrome will typically have several other characteristic signs: generalized lymphadenopathy, opportunistic infections, and alopecia. The liver and possibly the spleen will be enlarged, and patients often have very thick, coarse skin on the soles of the feet and palms of the hands (i.e., palmoplantar keratoderma).

Diagnosis is usually made with a patient history, complete physical exam, blood tests, biopsy of skin lesions, computed tomography imaging, and sometimes lymph node biopsy and/or bone marrow biopsy. These methods can also be useful in determining the stage of disease, especially whether the lymph nodes have been involved and whether the cancerous cells have spread to blood and other organs. In addition to eczema and psoriasis, the differential diagnosis may include nonspecific dermatitis, lichen, lupus, pseudolymphoma, parapsoriasis, and toxidermia.

To learn more about CTCL, visit our Cutaneous T-Cell Lymphoma (CTCL) Learning Center page. https://checkrare.com/cutaneous-t-cell-lymphoma-2/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/60793533Mon, 30 Sep 2024 16:59:46 +0000CheckRare EditorsYuliya Linhares, MD is a medical oncologist specializing in the comprehensive treatment of lymphoma and serves as chief of Lymphoma Services at Miami Cancer Institute. In this video, Dr. Linhares provides an overview of cutaneous T-cell lymphoma...
The diagnosis of CTCL is often challenging; as a result, delays in diagnosis (and subsequent work-up and treatment) can be significant. Part of the reason is the variability in how individual patients present with CTCL and its subtypes. Because mycosis fungoides progresses slowly, some patients may not experience progression beyond their initial symptoms, even beyond 10 years. Patients with mycosis fungoides or Sézary syndrome also have overlap in manifestations; in fact, Sézary syndrome was once classified as a malignant, leukemic variant of mycosis fungoides but is now recognized as a distinct CTCL subtype.

Patients with mycosis fungoides may progress through three phases of skin symptoms. The first may feature little more than transient red, scaly areas of skin on the buttocks and torso. The plaques may be hyper- or hypopigmented. As such, these symptoms can be easily misidentified as common skin conditions such as eczema or psoriasis. The variability of signs and symptoms also adds to the challenge of making a timely, clear-cut diagnosis.

In the second phase, patients with progressing disease may develop palpable, scaly, reddish-brown plaques that appear on any portion of the body. Over time, the affected areas of skin may grow, merging with other affected regions. Patients’ skin presentation during this stage can vary considerably: Some patients may experience severe pruritus or pain in these scaly bumps, which can result in sleep disturbances and other challenges to quality of life. Other patients may remain asymptomatic other than the skin’s appearance.

Disease presentation is a bit more consistent in patients who have progressed to the third phase of skin symptoms. Some patients may develop mushroom-shaped skin tumors that can cause skin ulceration and infection. Even for patients with mycosis fungoides reaching this phase of skin progression, malignant spread is uncommon (only 10% will experience metastases to major organs).
While patients with Stage III mycosis fungoides experience widespread erythema (over 80% of body surface area), erythroderma is a consistent feature of Sézary syndrome. This rash will often be associated with severe pruritus and peeling.

In addition to erythroderma and B2 blood involvement, patients with Sézary syndrome will typically have several other characteristic signs: generalized lymphadenopathy, opportunistic infections, and alopecia. The liver and possibly the spleen will be enlarged, and patients often have very thick, coarse skin on the soles of the feet and palms of the hands (i.e., palmoplantar keratoderma).

Diagnosis is usually made with a patient history, complete physical exam, blood tests, biopsy of skin lesions, computed tomography imaging, and sometimes lymph node biopsy and/or bone marrow biopsy. These methods can also be useful in determining the stage of disease, especially whether the lymph nodes have been involved and whether the cancerous cells have spread to blood and other organs. In addition to eczema and psoriasis, the differential diagnosis may include nonspecific dermatitis, lichen, lupus, pseudolymphoma, parapsoriasis, and toxidermia.

To learn more about CTCL, visit our Cutaneous T-Cell Lymphoma (CTCL) Learning Center page. https://checkrare.com/cutaneous-t-cell-lymphoma-2/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare...]]>1191falsefullhttps://checkrare.com/ctcl-the-role-of-dermatologists-in-diagnosing-and-caring-for-patients/
The diagnosis of CTCL is often challenging; as a result, delays in diagnosis (and subsequently work-up and treatment) can be significant. Part of the reason is the variability in how individual patients present with CTCL and its subtypes. Because mycosis fungoides progresses slowly, some patients may not experience progression beyond their initial symptoms, even beyond 10 years. Patients with mycosis fungoides or Sézary syndrome also have overlap in manifestations; in fact, Sézary syndrome was once classified as a malignant, leukemic variant of mycosis fungoides but is now recognized as a distinct CTCL subtype.

Patients with mycosis fungoides may progress through three phases of skin symptoms. The first may feature little more than transient red, scaly areas of skin on the buttocks and torso. The plaques may be hyper- or hypopigmented. As such, these symptoms can be easily misidentified as common skin conditions such as eczema or psoriasis. The variability of signs and symptoms also adds to the challenge of making a timely, clear-cut diagnosis.

In the second phase, patients with progressing disease may develop palpable, scaly, reddish-brown plaques that appear on any portion of the body. Over time, the affected areas of skin may grow, merging with other affected regions. Patients’ skin presentation during this stage can vary considerably: Some patients may experience severe pruritus or pain in these scaly bumps, which can result in sleep disturbances and other challenges to quality of life. Other patients may remain asymptomatic other than the skin’s appearance.

Disease presentation is a bit more consistent in patients who have progressed to the third phase of skin symptoms. Some patients may develop mushroom-shaped skin tumors that can cause skin ulceration and infection. Even for patients with mycosis fungoides reaching this phase of skin progression, malignant spread is uncommon (only 10% will experience metastases to major organs).
While patients with Stage III mycosis fungoides experience widespread erythema (over 80% of body surface area), erythroderma is a consistent feature of Sézary syndrome. This rash will often be associated with severe pruritus and peeling.

In addition to erythroderma and B2 blood involvement, patients with Sézary syndrome will typically have several other characteristic signs: generalized lymphadenopathy, opportunistic infections, and alopecia. The liver and possibly the spleen will be enlarged, and patients often have very thick, coarse skin on the soles of the feet and palms of the hands (i.e., palmoplantar keratoderma).

Diagnosis is usually made with a patient history, complete physical exam, blood tests, biopsy of skin lesions, computed tomography imaging, and sometimes lymph node biopsy and/or bone marrow biopsy. These methods can also be useful in determining the stage of disease, especially whether the lymph nodes have been involved and whether the cancerous cells have spread to blood and other organs. In addition to eczema and psoriasis, the differential diagnosis may include nonspecific dermatitis, lichen, lupus, pseudolymphoma, parapsoriasis, and toxidermia.

To learn more about CTCL, visit our Cutaneous T-Cell Lymphoma (CTCL) Learning Center page. https://checkrare.com/ctcl-the-role-of-dermatologists-in-diagnosing-and-caring-for-patients/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/60793509Fri, 26 Jul 2024 14:00:20 +0000CheckRare EditorsLarisa Geskin, MD, Professor of Dermatology at Columbia University Medical Center and Director of the Comprehensive Skin Cancer Center at the Division of Cutaneous Oncology in the Department of Dermatology, discusses the challenges of diagnosing...
The diagnosis of CTCL is often challenging; as a result, delays in diagnosis (and subsequently work-up and treatment) can be significant. Part of the reason is the variability in how individual patients present with CTCL and its subtypes. Because mycosis fungoides progresses slowly, some patients may not experience progression beyond their initial symptoms, even beyond 10 years. Patients with mycosis fungoides or Sézary syndrome also have overlap in manifestations; in fact, Sézary syndrome was once classified as a malignant, leukemic variant of mycosis fungoides but is now recognized as a distinct CTCL subtype.

Patients with mycosis fungoides may progress through three phases of skin symptoms. The first may feature little more than transient red, scaly areas of skin on the buttocks and torso. The plaques may be hyper- or hypopigmented. As such, these symptoms can be easily misidentified as common skin conditions such as eczema or psoriasis. The variability of signs and symptoms also adds to the challenge of making a timely, clear-cut diagnosis.

In the second phase, patients with progressing disease may develop palpable, scaly, reddish-brown plaques that appear on any portion of the body. Over time, the affected areas of skin may grow, merging with other affected regions. Patients’ skin presentation during this stage can vary considerably: Some patients may experience severe pruritus or pain in these scaly bumps, which can result in sleep disturbances and other challenges to quality of life. Other patients may remain asymptomatic other than the skin’s appearance.

Disease presentation is a bit more consistent in patients who have progressed to the third phase of skin symptoms. Some patients may develop mushroom-shaped skin tumors that can cause skin ulceration and infection. Even for patients with mycosis fungoides reaching this phase of skin progression, malignant spread is uncommon (only 10% will experience metastases to major organs).
While patients with Stage III mycosis fungoides experience widespread erythema (over 80% of body surface area), erythroderma is a consistent feature of Sézary syndrome. This rash will often be associated with severe pruritus and peeling.

In addition to erythroderma and B2 blood involvement, patients with Sézary syndrome will typically have several other characteristic signs: generalized lymphadenopathy, opportunistic infections, and alopecia. The liver and possibly the spleen will be enlarged, and patients often have very thick, coarse skin on the soles of the feet and palms of the hands (i.e., palmoplantar keratoderma).

Diagnosis is usually made with a patient history, complete physical exam, blood tests, biopsy of skin lesions, computed tomography imaging, and sometimes lymph node biopsy and/or bone marrow biopsy. These methods can also be useful in determining the stage of disease, especially whether the lymph nodes have been involved and whether the cancerous cells have spread to blood and other organs. In addition to eczema and psoriasis, the differential diagnosis may include nonspecific dermatitis, lichen, lupus, pseudolymphoma, parapsoriasis, and toxidermia.

To learn more about CTCL, visit our Cutaneous T-Cell Lymphoma (CTCL) Learning Center page. https://checkrare.com/ctcl-the-role-of-dermatologists-in-diagnosing-and-caring-for-patients/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at...]]>774falsefullhttps://www.spreaker.com/episode/myasthenia-gravis-research-highlights-aan-2024--60412823Supported by educational grants from argenx US, Inc. and UCB Inc.

To claim credit for this program, please visit https://checkrare.com/learning/p-myasthenia-gravis-research-highlights-aan-2024/

Estimated time to complete: 0.5 hours
Start date: June 15, 2024
End date: June 30,2025

Activity Description
This accredited CME program highlights the latest clinical research about myasthenia gravis, a rare, autoimmune disease that targets the neuromuscular junction.

Treatment of myastheniagravis is highly individualized and depends greatly on the myasthenia gravis subtype of each patient as well as each patient’s comorbidities. There are currently five drugs approved by the FDA, eculizumab, efgartigimod, ravulizumab, rozanolixizumab, and zilucoplan. Clinical trial data on these therapies, as well as real world data, were presented at the American Academy of Neurology Annual Meeting (AAN 2024) held in Denver, CO.


This CME activity, hosted by Nicholas Silvestri, MD, of the University of Buffalo, provides an overview of the latest clinical research presented at AAN 2024 focused on myasthenia gravis.

Activity Faculty
Nicholas Silvestri, MD
Professor of Neurology
University of Buffalo Jacobs School of Medicine and Biomedical Sciences

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, ophthalmology, and general practice. Other members of the care team may also participate.

Learning Objective
After participating in the activity, learners should be better able to:
Describe the latest research being presented to better manage people with myasthenia gravis and its clinical relevance
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:

Faculty Educator
Dr. Silvestri discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: argenx, Alexion, UCB, Immunovant, Janssen, Amgen
Speakers Bureau: argenx, Alexion, UCB, Takeda

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. 

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity.  Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org

Copyright
© 2024. American Academy of CME and CheckRare CE. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s). 



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/60412823Mon, 17 Jun 2024 16:57:51 +0000CheckRare EditorsJointly Provided by American Academy of CME and CheckRare CE. Supported by educational grants from argenx US, Inc. and UCB Inc. To claim credit for this program, please visit...Supported by educational grants from argenx US, Inc. and UCB Inc.

To claim credit for this program, please visit https://checkrare.com/learning/p-myasthenia-gravis-research-highlights-aan-2024/

Estimated time to complete: 0.5 hours
Start date: June 15, 2024
End date: June 30,2025

Activity Description
This accredited CME program highlights the latest clinical research about myasthenia gravis, a rare, autoimmune disease that targets the neuromuscular junction.

Treatment of myastheniagravis is highly individualized and depends greatly on the myasthenia gravis subtype of each patient as well as each patient’s comorbidities. There are currently five drugs approved by the FDA, eculizumab, efgartigimod, ravulizumab, rozanolixizumab, and zilucoplan. Clinical trial data on these therapies, as well as real world data, were presented at the American Academy of Neurology Annual Meeting (AAN 2024) held in Denver, CO.


This CME activity, hosted by Nicholas Silvestri, MD, of the University of Buffalo, provides an overview of the latest clinical research presented at AAN 2024 focused on myasthenia gravis.

Activity Faculty
Nicholas Silvestri, MD
Professor of Neurology
University of Buffalo Jacobs School of Medicine and Biomedical Sciences

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, ophthalmology, and general practice. Other members of the care team may also participate.

Learning Objective
After participating in the activity, learners should be better able to:
Describe the latest research being presented to better manage people with myasthenia gravis and its clinical relevance
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:

Faculty Educator
Dr. Silvestri discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: argenx, Alexion, UCB, Immunovant, Janssen, Amgen
Speakers Bureau: argenx, Alexion, UCB, Takeda

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. 

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information...]]>1528aan,eculizumab,efgartigimod,myasthenia-gravis,neurology,rare-disease,rare-disorder,rare-neurologic-disease,ravulizumab,rozanolixizumab,zilucoplanfalsefullhttps://checkrare.com/fabry-disease-podcast-series/
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/60321183Sat, 08 Jun 2024 10:55:44 +0000CheckRare EditorsIn this episode of our series focused on Fabry disease, we feature Maya Kineen, a patient and advocate with this rare disorder. Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called...
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>914fabry,gaucher,genetic-disorder,lysosomal,lysosomal-disorder,mps,pompe,rare-disease,rare-disorderfalsefullhttps://checkrare.com/fabry-disease-podcast-series/
Fabry disease is an inherited disorder that results from the buildup of globotriaosylceramide or GL-3. The disorder affects many parts of the body. Signs and symptoms may include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/60321172Sat, 08 Jun 2024 10:50:08 +0000CheckRare EditorsThis is the second of a three-part series focusing on Fabry disease. In this episode, we talk with Nicola Longo, MD, Chief of the Division of Medical Genetics at the University of Utah, Spencer Fox Eccles School of Medicine in Salt Lake City. Dr....
Fabry disease is an inherited disorder that results from the buildup of globotriaosylceramide or GL-3. The disorder affects many parts of the body. Signs and symptoms may include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1475fabry,gaucher,lysosomal,lysosomal-disorder,mps,pompe,rare-disease,rare-generic-diseasefalsefullhttps://checkrare.com/fabry-disease-podcast-series/
Fabry disease is a lysosomal storage disorder, meaning that a glycosphingolipid called GL-3 accumulates in the lysosomes, causing tissue damage; many cell types are affected.
The disease is caused by mutations in the GLA gene, resulting in nonfunctional or dysfunctional alpha-galactosidase A, a lysosomal enzyme. The mutations can be inherited, so multiple family members can have the disease.

Fabry disease is a multisystemic disease, affecting many organs, including the heart, kidney and nervous system, resulting in life-threatening complications and a reduced life expectancy. Early signs of the disease start in childhood and adolescence, but it is a progressive, lifelong condition.

Newborn screening has now been performed in several countries, yielding a prevalence ranging from 1 in 1,368 to 1 in 8,882 births.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/60321098Sat, 08 Jun 2024 10:45:43 +0000CheckRare EditorsIn this first part of our four-part series on Fabry disease, we feature William Burns, MD, a biochemical geneticist at Greenwood Genetic Center in Greenwood, South Carolina. Dr. Burns summarizes this rare disease, including current management...
Fabry disease is a lysosomal storage disorder, meaning that a glycosphingolipid called GL-3 accumulates in the lysosomes, causing tissue damage; many cell types are affected.
The disease is caused by mutations in the GLA gene, resulting in nonfunctional or dysfunctional alpha-galactosidase A, a lysosomal enzyme. The mutations can be inherited, so multiple family members can have the disease.

Fabry disease is a multisystemic disease, affecting many organs, including the heart, kidney and nervous system, resulting in life-threatening complications and a reduced life expectancy. Early signs of the disease start in childhood and adolescence, but it is a progressive, lifelong condition.

Newborn screening has now been performed in several countries, yielding a prevalence ranging from 1 in 1,368 to 1 in 8,882 births.


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1468fabry,gaucher,genetic-disease,lysosomal,lysosomal-storage-disorder,mps,pompe,rare-disease,rare-geneticfalsefullhttps://www.spreaker.com/episode/kidney-involvement-in-lysosomal-disorders--58906651
This CME/CE activity describes the pathophysiologies and management options for lysosomal disease patients with kidney problems. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees.

To receive credit for this program, go to https://checkrare.com/learning/

Speakers
Ozlem Goker-Alpan, MD, Founder and President, LDRTC
David G. Warnock, MD. Professor of Medicine (Emeritus)
University of Alabama at Birmingham

Disclosures
AffinityCE staff, LDRTC staff, CheckRare staff, planners, and reviewers, have no relevant financial interests to disclose. All faculty disclosures are listed below and are included in the beginning of each presentation.
Dr. Goker-Alpan is a consultant, a principal investigator and /or on the speaker bureau, or has received grant support, from the following pharmaceutical companies: Actelion, Amicus Therapeutics, Sanofi, Takeda, Pfizer/Protalix.
Dr. Warnock has had research support and/or consulting arrangements with Genzyme Corporation (Sanofi), Shire LLC (Takeda), Amicus, Protalix and Chiesi, Zebra Bio, Walking Fish, Hanmi, and Vera Therapeutics.

Mitigation of Relevant Financial Relationships
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.

• Learning Objectives
• At the end of this activity, participants should be able to:
• Describe the role of the nephrologist in the team approach to care
• Describe best practices to monitor kidney function in lysosomal disorders
• Describe best practices to treat kidney disorders lysosomal disorders

Support for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics and Chiesi USA.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/58906651Tue, 05 Mar 2024 14:37:02 +0000CheckRare EditorsOzlem Goker-Alpan, MD, Founder and President, LDRTC and David G. Warnock, MD. Professor of Medicine (Emeritus) at University of Alabama at Birmingham discuss best practices to identify and treat kidney problems associated with lysosomal disorders....
This CME/CE activity describes the pathophysiologies and management options for lysosomal disease patients with kidney problems. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees.

To receive credit for this program, go to https://checkrare.com/learning/

Speakers
Ozlem Goker-Alpan, MD, Founder and President, LDRTC
David G. Warnock, MD. Professor of Medicine (Emeritus)
University of Alabama at Birmingham

Disclosures
AffinityCE staff, LDRTC staff, CheckRare staff, planners, and reviewers, have no relevant financial interests to disclose. All faculty disclosures are listed below and are included in the beginning of each presentation.
Dr. Goker-Alpan is a consultant, a principal investigator and /or on the speaker bureau, or has received grant support, from the following pharmaceutical companies: Actelion, Amicus Therapeutics, Sanofi, Takeda, Pfizer/Protalix.
Dr. Warnock has had research support and/or consulting arrangements with Genzyme Corporation (Sanofi), Shire LLC (Takeda), Amicus, Protalix and Chiesi, Zebra Bio, Walking Fish, Hanmi, and Vera Therapeutics.

Mitigation of Relevant Financial Relationships
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.

• Learning Objectives
• At the end of this activity, participants should be able to:
• Describe the role of the nephrologist in the team approach to care
• Describe best practices to monitor kidney function in lysosomal disorders
• Describe best practices to treat kidney disorders lysosomal disorders

Support for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics and Chiesi USA.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>3600fabry,gaucher,genetic,kidney,lysosomal,mps,pompe,rare-diseasefalsefullhttps://www.spreaker.com/episode/hae-treatment-advances-highlights-from-acaai--58518986Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Ionis Pharmaceuticals Inc.
Estimated time to complete: 0.25 hours
Start date: January 31, 2024
End date: January 30, 2025

To obtain CME credit, go to https://checkrare.com/learning/p-hae-treatment-advances-highlights-from-acaai/


Activity Faculty
Aleena Banerji, MD Associate Professor Clinical Director, MGH Allergy and Immunology Unit Harvard Medical School Massachusetts General Hospital Boston, MA

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in allergy medicine, immunology, internal medicine, and pediatrics who may be involved in the care for individuals with HAE. Other healthcare providers (HCPs) may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
• Understand clinical data of treatments in development for HAE

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM.

Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Banerji discloses the following relevant financial relationships with ineligible companies:
• Research Grant: Takeda, Ionis Pharmaceuticals, Astria
• Advisory Board: Takeda, BioCryst, Astria, Intellia, CSL Behring, KalVista, ADARx

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity.

To receive CME credit for your participation, please complete the pre and post-program assessments at https://checkrare.com/learning/p-hae-treatment-advances-highlights-from-acaai/ Your certificate will be emailed to you in within 30 days.

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm

For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/ Contact

For any questions, please contact: CEServices@academycme.org

Copyright © 2024. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/58518986Sun, 03 Mar 2024 18:49:03 +0000CheckRare EditorsThis 16-minute CME-accredited program, hosted by Aleena Banerji, MD, Associate Professor at Harvard Medical School and Clinical Director of the Massachusetts General Hospital ( MGH) Allergy and Immunology Unit, highlights the future treatment options...Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Ionis Pharmaceuticals Inc.
Estimated time to complete: 0.25 hours
Start date: January 31, 2024
End date: January 30, 2025

To obtain CME credit, go to https://checkrare.com/learning/p-hae-treatment-advances-highlights-from-acaai/


Activity Faculty
Aleena Banerji, MD Associate Professor Clinical Director, MGH Allergy and Immunology Unit Harvard Medical School Massachusetts General Hospital Boston, MA

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in allergy medicine, immunology, internal medicine, and pediatrics who may be involved in the care for individuals with HAE. Other healthcare providers (HCPs) may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
• Understand clinical data of treatments in development for HAE

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM.

Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Banerji discloses the following relevant financial relationships with ineligible companies:
• Research Grant: Takeda, Ionis Pharmaceuticals, Astria
• Advisory Board: Takeda, BioCryst, Astria, Intellia, CSL Behring, KalVista, ADARx

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements,...]]>963cme,hae,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/hereditary-angioedema-current-treatment-options--58518865
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Ionis Pharmaceuticals Inc.
Estimated time to complete: 0.50 hours
Start date: January 31, 2024
End date: January 30, 2025

To obtain CME credit, go to https://checkrare.com/learning/p-hereditary-angioedema-current-treatment-options/

Activity Faculty
Aleena Banerji, MD Associate Professor Clinical Director, MGH Allergy and Immunology Unit Harvard Medical School Massachusetts General Hospital Boston, MA

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in allergy medicine, immunology, internal medicine, and pediatrics who may be involved in the care for individuals with HAE. Other healthcare providers (HCPs) may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
• Review current guidelines and unmet needs of patients with HAE


Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 CreditsTM.

Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Banerji discloses the following relevant financial relationships with ineligible companies:
• Research Grant: Takeda, Ionis Pharmaceuticals, Astria
• Advisory Board: Takeda, BioCryst, Astria, Intellia, CSL Behring, KalVista, ADARx

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity.

To receive CME credit for your participation, please complete the pre and post-program assessments at https://checkrare.com/learning/p-hereditary-angioedema-current-treatment-options/ Your certificate will be emailed to you in within 30 days.

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm

For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/ Contact

For any questions, please contact: CEServices@academycme.org

Copyright © 2024. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/58518865Sun, 03 Mar 2024 18:48:54 +0000CheckRare EditorsThis 25-minute CME-accredited program, hosted by Aleena Banerji, MD, Associate Professor at Harvard Medical School and Clinical Director of the Massachusetts General Hospital ( MGH) Allergy and Immunology Unit, highlights the current treatment options...
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Ionis Pharmaceuticals Inc.
Estimated time to complete: 0.50 hours
Start date: January 31, 2024
End date: January 30, 2025

To obtain CME credit, go to https://checkrare.com/learning/p-hereditary-angioedema-current-treatment-options/

Activity Faculty
Aleena Banerji, MD Associate Professor Clinical Director, MGH Allergy and Immunology Unit Harvard Medical School Massachusetts General Hospital Boston, MA

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in allergy medicine, immunology, internal medicine, and pediatrics who may be involved in the care for individuals with HAE. Other healthcare providers (HCPs) may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
• Review current guidelines and unmet needs of patients with HAE


Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 CreditsTM.

Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Banerji discloses the following relevant financial relationships with ineligible companies:
• Research Grant: Takeda, Ionis Pharmaceuticals, Astria
• Advisory Board: Takeda, BioCryst, Astria, Intellia, CSL Behring, KalVista, ADARx

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as...]]>1483angioedem,cme,hae,hereditary,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/assessing-monitoring-and-managing-respiratory-involvement-in-lysosomal-disorders--58906520
This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees.

To receive credit for this program, visit https://checkrare.com/learning/p-ldrtc2023-webinar3-assessing-monitoring-managing-respiratory-involvement-in-lysosomal-disorders/

Disclosures
AffinityCE staff, LDRTC staff, CheckRare staff, planners, and reviewers, have no relevant financial interests to disclose. All faculty disclosures are listed below and are included in the beginning of each presentation.

Ozlem Goker-Alpan, MD
Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC).
Dr. Goker-Alpan is a consultant, a principal investigator and /or on the speaker bureau, or has received grant support, from the following pharmaceutical companies: Actelion, Amicus Therapeutics, Sanofi, Takeda, Pfizer/Protalix.

John Bach, MD
Professor of Physical Medicine and Rehabilitation, Professor of Neurology, Rutgers New Jersey Medical Center.
Dr. Bach has no relevant financial interest to disclose.

Mitigation of Relevant Financial Relationships
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.

Learning Objectives
At the end of this activity, participants should be able to:
• Describe the most common LSDs that have pulmonary complications.
• Describe best practices to manage pulmonary symptoms in Pompe disease.
• Describe best practices to manage pulmonary symptoms in MPSs.
• Describe best practices to manage sleep apnea in lysosomal diseases.

Physicians
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.

AffinityCE designates this enduring activity for a maximum of 1.25 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Physician Assistants
AffinityCE designates this enduring activity for a maximum of 1.25 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity.

Nurses
Continuing Nursing Education is provided for this program through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1.25 hours of continuing nursing education credit.

Nurse Practitioners
AffinityCE designates this enduring activity for a maximum of 1.25 AMA PRA Category 1 Credits™. Nurse practitioners should claim only the credit commensurate with the extent of their participation in the activity.

Genetic Counselors
Category 2 CEU
AffinityCE designates this enduring activity for a maximum of 1.25 AMA PRA Category 1 Credit™. Genetic counselors should claim only the credit commensurate with the extent of their participation in the activity.

Other Professionals
All other health care professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity.

Commercial Support
Support for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics and Chiesi USA.

Participation Costs
There is no cost to participate in this activity.

CME Inquiries
For all CME policy-related inquiries, please contact us at ce@affinityced.com.
Send customer support requests to cds_support+ldrtc@affinityced.com.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/58906520Sun, 03 Mar 2024 13:47:40 +0000CheckRare EditorsOzlem Goker-Alpan, MD of LDRTC and John Bach, MD, Professor of Neurology at Rutgers School of Medicine discuss best practices to manage respiratory complications in persons with lysosomal disorders. This continuing education activity is provided...
This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees.

To receive credit for this program, visit https://checkrare.com/learning/p-ldrtc2023-webinar3-assessing-monitoring-managing-respiratory-involvement-in-lysosomal-disorders/

Disclosures
AffinityCE staff, LDRTC staff, CheckRare staff, planners, and reviewers, have no relevant financial interests to disclose. All faculty disclosures are listed below and are included in the beginning of each presentation.

Ozlem Goker-Alpan, MD
Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC).
Dr. Goker-Alpan is a consultant, a principal investigator and /or on the speaker bureau, or has received grant support, from the following pharmaceutical companies: Actelion, Amicus Therapeutics, Sanofi, Takeda, Pfizer/Protalix.

John Bach, MD
Professor of Physical Medicine and Rehabilitation, Professor of Neurology, Rutgers New Jersey Medical Center.
Dr. Bach has no relevant financial interest to disclose.

Mitigation of Relevant Financial Relationships
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.

Learning Objectives
At the end of this activity, participants should be able to:
• Describe the most common LSDs that have pulmonary complications.
• Describe best practices to manage pulmonary symptoms in Pompe disease.
• Describe best practices to manage pulmonary symptoms in MPSs.
• Describe best practices to manage sleep apnea in lysosomal diseases.

Physicians
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.

AffinityCE designates this enduring activity for a maximum of 1.25 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Physician Assistants
AffinityCE designates this enduring activity for a maximum of 1.25 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity.

Nurses
Continuing Nursing Education is provided for this program through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1.25 hours of continuing nursing education credit.

Nurse Practitioners
AffinityCE designates...]]>3104genetics,lysosomal,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/hereditary-angioedema-current-and-future-treatment-options--58516486
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Ionis Pharmaceuticals Inc.

Estimated time to complete: 0.75 hours
Start date: January 31, 2024
End date: January 30, 2025

To obtain CME credit, go to https://checkrare.com/learning/p-hereditary-angioedema-current-and-future-treatment-options/

Activity Faculty
Aleena Banerji, MD Associate Professor Clinical Director, MGH Allergy and Immunology Unit Harvard Medical School Massachusetts General Hospital Boston, MA

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in allergy medicine, immunology, internal medicine, and pediatrics who may be involved in the care for individuals with HAE. Other healthcare providers (HCPs) may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
• Review current guidelines and unmet needs of patients with HAE
• Understand clinical data of treatments in development for HAE

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.75 AMA PRA Category 1 CreditsTM.

Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Banerji discloses the following relevant financial relationships with ineligible companies:
• Research Grant: Takeda, Ionis Pharmaceuticals, Astria
• Advisory Board: Takeda, BioCryst, Astria, Intellia, CSL Behring, KalVista, ADARx

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity.

To receive CME credit for your participation, please complete the pre and post-program assessments at https://checkrare.com/learning/p-hereditary-angioedema-current-and-future-treatment-options/ Your certificate will be emailed to you in within 30 days.

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm

For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/ Contact

For any questions, please contact: CEServices@academycme.org

Copyright © 2024. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/58516486Wed, 31 Jan 2024 19:59:16 +0000CheckRare EditorsThis 40-minute CME-accredited program, hosted by Aleena Banerji, MD, Associate Professor at Harvard Medical School and Clinical Director of the Massachusetts General Hospital ( MGH) Allergy and Immunology Unit, highlights the current and future...
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Ionis Pharmaceuticals Inc.

Estimated time to complete: 0.75 hours
Start date: January 31, 2024
End date: January 30, 2025

To obtain CME credit, go to https://checkrare.com/learning/p-hereditary-angioedema-current-and-future-treatment-options/

Activity Faculty
Aleena Banerji, MD Associate Professor Clinical Director, MGH Allergy and Immunology Unit Harvard Medical School Massachusetts General Hospital Boston, MA

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in allergy medicine, immunology, internal medicine, and pediatrics who may be involved in the care for individuals with HAE. Other healthcare providers (HCPs) may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
• Review current guidelines and unmet needs of patients with HAE
• Understand clinical data of treatments in development for HAE

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.75 AMA PRA Category 1 CreditsTM.

Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Banerji discloses the following relevant financial relationships with ineligible companies:
• Research Grant: Takeda, Ionis Pharmaceuticals, Astria
• Advisory Board: Takeda, BioCryst, Astria, Intellia, CSL Behring, KalVista, ADARx

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the...]]>2416angioedema:,cme,hae,hereditary,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/alpha-mannosidosis-from-a-mom-s-perspective-featuring-rhonda-skipper--58071101
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).



The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/58071101Wed, 20 Dec 2023 14:17:54 +0000CheckRare EditorsIn this final episode of our four-part series focused on alpha-mannosidosis, we feature Rhonda Skipper, a mom of two boys, Dale and Matt, who have this rare disease. Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the...
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).



The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>627alpha-d-mannosidase,alpha-mannosidosis,chiesi,man2b1,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/diagnosing-and-managing-alpha-mannosidosis-featuring-markey-mcnutt-md-phd--58071163

Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).



The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/58071163Wed, 20 Dec 2023 14:16:30 +0000CheckRare EditorsThis is the third of a four-part series focusing on alpha-mannosidosis. In this episode, we feature Dr. Markey McNutt, who will focus on the challenges of identifying and caring for patients with this rare disease. Dr. McNutt is a Clinical Geneticist...

Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).



The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>796alpha-mannosidosis,markey,mcnutt,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/signs-and-symptoms-of-alpha-mannosidosis-featuring-reid-sutton-md--58071201
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).

The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/58071201Wed, 20 Dec 2023 14:14:22 +0000CheckRare EditorsThis is the second of a four-part series focusing on alpha-mannosidosis. In this episode, we talk with Dr. Reid Sutton on the challenges of recognizing this rare disease, focusing on the signs and symptoms. Dr. Sutton is a Clinical Geneticist and a...
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).

The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>972alpha-mannosidosis,baylor,genetic-disease,lysosomal,rare-disease,rare-disorder,reid,suttonfalsefullhttps://www.spreaker.com/episode/alpha-mannosidosis-overview-featuring-laura-buch-mspas-pa-c--58071224
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).


The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/58071224Wed, 20 Dec 2023 13:58:01 +0000CheckRare EditorsIn this first part of our four-part series on alpha-mannosidosis, we feature Laura Buch, a physician assistant who practices medical genetics at the Greenwood Genetic Center in South Carolina. Laura’s work focuses on the diagnosis and treatment of...
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).


The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1689alpha-d-mannosidase,alpha-mannosidosis,lysosomal,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/myasthenia-gravis-and-the-complement-system-treatment-options--58057604Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from UCB.
Start date: December 18, 2023. End date: December 18, 2024

To receive CME credit, go to https://checkrare.com/learning/p-myasthenia-gravis-and-the-complement-system-treatment-options/

Activity Faculty
James F Howard Jr, MD
Professor of Neurology, Medicine & Allied Health
Department of Neurology
The University of North Carolina at Chapel Hill

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology who may be involved in the diagnosis and care for individuals with TIO. Other healthcare providers, including neurology NPs and PAs, may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
Describe efficacy of the treatment options for MG that target the complement system.
Compare the safety of the treatment options for MG that target the complement system.

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Howard discloses the following relevant financial relationships with ineligible companies:
Grant/Research support (paid to his institution): Alexion Pharmaceuticals, argenx, Cartesian Therapeutics, Centers for Disease Control and Prevention, Myasthenia Gravis Foundation of America, Muscular Dystrophy Association, National Institutes of Health (including the National Institute of Neurological Disorders and Stroke and the National Institute of Arthritis and Musculoskeletal and Skin Diseases), Patient-Centered Outcomes Research Institute, and Ra Pharmaceuticals (now UCB Biosciences).
Advisory Board/Consultant: Alexion Pharmaceuticals, argenx, Biologix Pharma, F. Hoffman-LaRoche Ltd, Immunovant Inc., Merck EMD Serono, NMD Pharma, Novartis Pharmaceuticals, Ra Pharmaceuticals (now UCB Biosciences), Regeneron Pharmaceuticals, Sanofi US, Horizon Therapeutics (now Amgen) Toleranzia AB, and Zai Labs.
Shareholder (as part of a family trust): Johnson & Johnson, Pfizer, General Electric, GE Healthcare, GlaxoSmithKline, Viatris

Non-financial Support (meeting travel): Alexion Pharmaceuticals, argenx, Ra Pharmaceuticals (now UCB Biosciences), Toleranzia AB.

Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.
Hardware/Software Requirements

Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection

Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy,
please access https://checkrare.com/privacy/

Contact
For any questions, please contact: CEServices@academycme.org

Copyright
© 2023. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/58057604Tue, 19 Dec 2023 11:59:39 +0000CheckRare EditorsThis 30-minute CME-accredited program highlights the connection between the complement system and myasthenia gravis in regards to the treatment of this rare disease. Jointly Provided by American Academy of CME and CheckRare CE. Support for this...Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from UCB.
Start date: December 18, 2023. End date: December 18, 2024

To receive CME credit, go to https://checkrare.com/learning/p-myasthenia-gravis-and-the-complement-system-treatment-options/

Activity Faculty
James F Howard Jr, MD
Professor of Neurology, Medicine & Allied Health
Department of Neurology
The University of North Carolina at Chapel Hill

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology who may be involved in the diagnosis and care for individuals with TIO. Other healthcare providers, including neurology NPs and PAs, may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
Describe efficacy of the treatment options for MG that target the complement system.
Compare the safety of the treatment options for MG that target the complement system.

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Howard discloses the following relevant financial relationships with ineligible companies:
Grant/Research support (paid to his institution): Alexion Pharmaceuticals, argenx, Cartesian Therapeutics, Centers for Disease Control and Prevention, Myasthenia Gravis Foundation of America, Muscular Dystrophy Association, National Institutes of Health (including the National Institute of Neurological Disorders and Stroke and the National Institute of Arthritis and Musculoskeletal and Skin Diseases), Patient-Centered Outcomes Research Institute, and Ra Pharmaceuticals (now UCB Biosciences).
Advisory Board/Consultant: Alexion Pharmaceuticals, argenx, Biologix Pharma, F. Hoffman-LaRoche Ltd, Immunovant Inc., Merck EMD Serono, NMD Pharma, Novartis Pharmaceuticals, Ra Pharmaceuticals (now UCB Biosciences), Regeneron Pharmaceuticals, Sanofi US, Horizon Therapeutics (now Amgen) Toleranzia AB, and Zai Labs.
Shareholder (as part of a family trust): Johnson & Johnson, Pfizer, General Electric, GE Healthcare, GlaxoSmithKline, Viatris

Non-financial Support (meeting travel): Alexion Pharmaceuticals, argenx, Ra Pharmaceuticals...]]>1625rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/myasthenia-gravis-and-the-complement-system-pathophysiology--58057579
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from UCB.

Start date: December 18, 2023. End date: December 18, 2024

To receive CME credit, go to https://checkrare.com/learning/p-myasthenia-gravis-and-the-complement-system-pathophysiology/

Activity Faculty
James F Howard Jr, MD
Professor of Neurology, Medicine & Allied Health
Department of Neurology
The University of North Carolina at Chapel Hill

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology who may be involved in the diagnosis and care for individuals with TIO. Other healthcare providers, including neurology NPs and PAs, may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
Describe efficacy of the treatment options for MG that target the complement system.
Compare the safety of the treatment options for MG that target the complement system.

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:

Faculty Educator
Dr. Howard discloses the following relevant financial relationships with ineligible companies:
Grant/Research support (paid to his institution): Alexion Pharmaceuticals, argenx, Cartesian Therapeutics, Centers for Disease Control and Prevention, Myasthenia Gravis Foundation of America, Muscular Dystrophy Association, National Institutes of Health (including the National Institute of Neurological Disorders and Stroke and the National Institute of Arthritis and Musculoskeletal and Skin Diseases), Patient-Centered Outcomes Research Institute, and Ra Pharmaceuticals (now UCB Biosciences).

Advisory Board/Consultant: Alexion Pharmaceuticals, argenx, Biologix Pharma, F. Hoffman-LaRoche Ltd, Immunovant Inc., Merck EMD Serono, NMD Pharma, Novartis Pharmaceuticals, Ra Pharmaceuticals (now UCB Biosciences), Regeneron Pharmaceuticals, Sanofi US, Horizon Therapeutics (now Amgen) Toleranzia AB, and Zai Labs.
Shareholder (as part of a family trust): Johnson & Johnson, Pfizer, General Electric, GE Healthcare, GlaxoSmithKline, Viatris

Non-financial Support (meeting travel): Alexion Pharmaceuticals, argenx, Ra Pharmaceuticals (now UCB Biosciences), Toleranzia AB.

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.

Hardware/Software Requirements
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact: CEServices@academycme.org

Copyright
© 2023. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/58057579Tue, 19 Dec 2023 11:54:12 +0000CheckRare EditorsThis 15-minute CME-accredited program highlights the connection between the complement system and myasthenia gravis in regards to the pathophysiology of this rare disease. Jointly Provided by American Academy of CME and CheckRare CE. Support for...
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from UCB.

Start date: December 18, 2023. End date: December 18, 2024

To receive CME credit, go to https://checkrare.com/learning/p-myasthenia-gravis-and-the-complement-system-pathophysiology/

Activity Faculty
James F Howard Jr, MD
Professor of Neurology, Medicine & Allied Health
Department of Neurology
The University of North Carolina at Chapel Hill

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology who may be involved in the diagnosis and care for individuals with TIO. Other healthcare providers, including neurology NPs and PAs, may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
Describe efficacy of the treatment options for MG that target the complement system.
Compare the safety of the treatment options for MG that target the complement system.

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:

Faculty Educator
Dr. Howard discloses the following relevant financial relationships with ineligible companies:
Grant/Research support (paid to his institution): Alexion Pharmaceuticals, argenx, Cartesian Therapeutics, Centers for Disease Control and Prevention, Myasthenia Gravis Foundation of America, Muscular Dystrophy Association, National Institutes of Health (including the National Institute of Neurological Disorders and Stroke and the National Institute of Arthritis and Musculoskeletal and Skin Diseases), Patient-Centered Outcomes Research Institute, and Ra Pharmaceuticals (now UCB Biosciences).

Advisory Board/Consultant: Alexion Pharmaceuticals, argenx, Biologix Pharma, F. Hoffman-LaRoche Ltd, Immunovant Inc., Merck EMD Serono, NMD Pharma, Novartis Pharmaceuticals, Ra Pharmaceuticals (now UCB Biosciences), Regeneron Pharmaceuticals, Sanofi US, Horizon Therapeutics (now Amgen) Toleranzia AB, and Zai Labs.
Shareholder (as part of a family trust): Johnson & Johnson, Pfizer, General Electric, GE Healthcare, GlaxoSmithKline, Viatris

Non-financial Support (meeting travel): Alexion Pharmaceuticals,...]]>1130cme,gravis,medical-education,myasthenia,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/myasthenia-gravis-and-the-complement-system--58053137
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from UCB.

Start date: December 18, 2023. End date: December 18, 2024

To receive CME credit, go to https://checkrare.com/learning/p-myasthenia-gravis-and-the-complement-system/


Activity Faculty
James F Howard Jr, MD
Professor of Neurology, Medicine & Allied Health
Department of Neurology
The University of North Carolina at Chapel Hill

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology who may be involved in the diagnosis and care for individuals with TIO. Other healthcare providers, including neurology NPs and PAs, may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
Describe efficacy of the treatment options for MG that target the complement system.
Compare the safety of the treatment options for MG that target the complement system.

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:

Faculty Educator
Dr. Howard discloses the following relevant financial relationships with ineligible companies:
Grant/Research support (paid to his institution): Alexion Pharmaceuticals, argenx, Cartesian Therapeutics, Centers for Disease Control and Prevention, Myasthenia Gravis Foundation of America, Muscular Dystrophy Association, National Institutes of Health (including the National Institute of Neurological Disorders and Stroke and the National Institute of Arthritis and Musculoskeletal and Skin Diseases), Patient-Centered Outcomes Research Institute, and Ra Pharmaceuticals (now UCB Biosciences).
Advisory Board/Consultant: Alexion Pharmaceuticals, argenx, Biologix Pharma, F. Hoffman-LaRoche Ltd, Immunovant Inc., Merck EMD Serono, NMD Pharma, Novartis Pharmaceuticals, Ra Pharmaceuticals (now UCB Biosciences), Regeneron Pharmaceuticals, Sanofi US, Horizon Therapeutics (now Amgen) Toleranzia AB, and Zai Labs.
Shareholder (as part of a family trust): Johnson & Johnson, Pfizer, General Electric, GE Healthcare, GlaxoSmithKline, Viatris
Non-financial Support (meeting travel): Alexion Pharmaceuticals, argenx, Ra Pharmaceuticals (now UCB Biosciences), Toleranzia AB.

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.

Hardware/Software Requirements
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact: CEServices@academycme.org

Copyright
© 2023. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/58053137Tue, 19 Dec 2023 11:50:06 +0000CheckRare EditorsThis 45-minute CME-accredited program highlights the connection between the complement system and myasthenia gravis in regards to the pathophysiology and treatment of this rare disease. Jointly Provided by American Academy of CME and CheckRare CE....
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from UCB.

Start date: December 18, 2023. End date: December 18, 2024

To receive CME credit, go to https://checkrare.com/learning/p-myasthenia-gravis-and-the-complement-system/


Activity Faculty
James F Howard Jr, MD
Professor of Neurology, Medicine & Allied Health
Department of Neurology
The University of North Carolina at Chapel Hill

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology who may be involved in the diagnosis and care for individuals with TIO. Other healthcare providers, including neurology NPs and PAs, may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
Describe efficacy of the treatment options for MG that target the complement system.
Compare the safety of the treatment options for MG that target the complement system.

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:

Faculty Educator
Dr. Howard discloses the following relevant financial relationships with ineligible companies:
Grant/Research support (paid to his institution): Alexion Pharmaceuticals, argenx, Cartesian Therapeutics, Centers for Disease Control and Prevention, Myasthenia Gravis Foundation of America, Muscular Dystrophy Association, National Institutes of Health (including the National Institute of Neurological Disorders and Stroke and the National Institute of Arthritis and Musculoskeletal and Skin Diseases), Patient-Centered Outcomes Research Institute, and Ra Pharmaceuticals (now UCB Biosciences).
Advisory Board/Consultant: Alexion Pharmaceuticals, argenx, Biologix Pharma, F. Hoffman-LaRoche Ltd, Immunovant Inc., Merck EMD Serono, NMD Pharma, Novartis Pharmaceuticals, Ra Pharmaceuticals (now UCB Biosciences), Regeneron Pharmaceuticals, Sanofi US, Horizon Therapeutics (now Amgen) Toleranzia AB, and Zai Labs.
Shareholder (as part of a family trust): Johnson & Johnson, Pfizer, General Electric, GE Healthcare, GlaxoSmithKline, Viatris
Non-financial Support (meeting travel): Alexion Pharmaceuticals, argenx, Ra...]]>2658complement,gravis,myasthenia,rare-disease,rare-disorder,systemfalsefullhttps://www.spreaker.com/episode/new-guidance-to-treat-tumor-induced-osteomalacia-tio--57880824
Estimated time to complete: 0.25 hours
Start date: November 30, 2023 End date: November 30, 2024
This 15-minute CME-accredited program, hosted by Aliya Khan, MD, Clinical Professor of Medicine at McMaster University, highlights the best practices to diagnose tumor induced osteomalacia (TIO) based on the recently published guidelines in the Journal of Internal Medicine.

To earn credit, go to https://checkrare.com/learning/p-new-guidance-to-treat-tumor-induced-osteomalacia-tio-2023-3/

Activity Faculty
Aliya Khan MD, FRCPC, FACP, FACE, FASBMR Clinical Professor of Medicine Director, Calcium Disorders Clinic Director, Fellowship in Metabolic Bone Disease McMaster University

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, orthopedics, internal medicine/general practice, rheumatology, endocrinology, pain management, and radiology, who may be involved in the care for individuals with TIO. Other healthcare providers may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
• Describe the latest recommendations for treating patients with TIO

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Khan discloses the following relevant financial relationships with ineligible companies to disclose:
• Advisory Board/Consultant: Amgen, Ascendis, Alexion
• Grant/Research support: Ascendis, Alexion, Amolyt
• Speakers Bureaus: Amgen, Ascendis, Alexion

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments at:
https://checkrare.com/learning/p-new-guidance-to-treat-tumor-induced-osteomalacia-tio-2023-3/

Your certificate will be emailed to you in within 30 days.

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact
For any questions, please contact: CEServices@academycme.org Copyright © 2023.

This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/57880824Fri, 01 Dec 2023 19:57:22 +0000CheckRare EditorsJointly Provided by American Academy of CME and CheckRare CE Support for this accredited continuing education activity has been made possible through an educational grant from Kyowa Kirin. Estimated time to complete: 0.25 hours Start date: November...
Estimated time to complete: 0.25 hours
Start date: November 30, 2023 End date: November 30, 2024
This 15-minute CME-accredited program, hosted by Aliya Khan, MD, Clinical Professor of Medicine at McMaster University, highlights the best practices to diagnose tumor induced osteomalacia (TIO) based on the recently published guidelines in the Journal of Internal Medicine.

To earn credit, go to https://checkrare.com/learning/p-new-guidance-to-treat-tumor-induced-osteomalacia-tio-2023-3/

Activity Faculty
Aliya Khan MD, FRCPC, FACP, FACE, FASBMR Clinical Professor of Medicine Director, Calcium Disorders Clinic Director, Fellowship in Metabolic Bone Disease McMaster University

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, orthopedics, internal medicine/general practice, rheumatology, endocrinology, pain management, and radiology, who may be involved in the care for individuals with TIO. Other healthcare providers may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
• Describe the latest recommendations for treating patients with TIO

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Khan discloses the following relevant financial relationships with ineligible companies to disclose:
• Advisory Board/Consultant: Amgen, Ascendis, Alexion
• Grant/Research support: Ascendis, Alexion, Amolyt
• Speakers Bureaus: Amgen, Ascendis, Alexion

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the...]]>932rare-cancer,rare-diseae,rare-disorder,tio,tumor-induced-osteomalaciafalsefullhttps://checkrare.com/learning/p-new-guidance-to-diagnose-tumor-induced-osteomalacia-tio-2023-2/
Estimated time to complete: 0.25 hours
Start date: November 30, 2023 End date: November 30, 2024
This 15-minute CME-accredited program, hosted by Aliya Khan, MD, Clinical Professor of Medicine at McMaster University, highlights the best practices to diagnose tumor induced osteomalacia (TIO) based on the recently published guidelines in the Journal of Internal Medicine.

To earn credit, go to https://checkrare.com/learning/p-new-guidance-to-diagnose-tumor-induced-osteomalacia-tio-2023-2/

Activity Faculty
Aliya Khan MD, FRCPC, FACP, FACE, FASBMR Clinical Professor of Medicine Director, Calcium Disorders Clinic Director, Fellowship in Metabolic Bone Disease McMaster University

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, orthopedics, internal medicine/general practice, rheumatology, endocrinology, pain management, and radiology, who may be involved in the care for individuals with TIO. Other healthcare providers may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
• Describe the latest recommendations for diagnosing patients with TIO

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Khan discloses the following relevant financial relationships with ineligible companies to disclose:
• Advisory Board/Consultant: Amgen, Ascendis, Alexion
• Grant/Research support: Ascendis, Alexion, Amolyt
• Speakers Bureaus: Amgen, Ascendis, Alexion

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments at:
https://checkrare.com/learning/p-new-guidance-to-diagnose-tumor-induced-osteomalacia-tio-2023-2/

Your certificate will be emailed to you in within 30 days.

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact
For any questions, please contact: CEServices@academycme.org Copyright © 2023.

This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/57880726Fri, 01 Dec 2023 19:53:08 +0000CheckRare EditorsJointly Provided by American Academy of CME and CheckRare CE Support for this accredited continuing education activity has been made possible through educational grant from Kyowa Kirin. Estimated time to complete: 0.25 hours Start date: November...
Estimated time to complete: 0.25 hours
Start date: November 30, 2023 End date: November 30, 2024
This 15-minute CME-accredited program, hosted by Aliya Khan, MD, Clinical Professor of Medicine at McMaster University, highlights the best practices to diagnose tumor induced osteomalacia (TIO) based on the recently published guidelines in the Journal of Internal Medicine.

To earn credit, go to https://checkrare.com/learning/p-new-guidance-to-diagnose-tumor-induced-osteomalacia-tio-2023-2/

Activity Faculty
Aliya Khan MD, FRCPC, FACP, FACE, FASBMR Clinical Professor of Medicine Director, Calcium Disorders Clinic Director, Fellowship in Metabolic Bone Disease McMaster University

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, orthopedics, internal medicine/general practice, rheumatology, endocrinology, pain management, and radiology, who may be involved in the care for individuals with TIO. Other healthcare providers may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
• Describe the latest recommendations for diagnosing patients with TIO

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs
Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Khan discloses the following relevant financial relationships with ineligible companies to disclose:
• Advisory Board/Consultant: Amgen, Ascendis, Alexion
• Grant/Research support: Ascendis, Alexion, Amolyt
• Speakers Bureaus: Amgen, Ascendis, Alexion

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity...]]>1292rare-cancer,rare-disease,tio,tumor-induced-osteomalaciafalsefullhttps://checkrare.com/learning/p-new-guidance-to-diagnose-and-treat-tumor-induced-osteomalacia-tio-2023-1/
To earn credit, go to https://checkrare.com/learning/p-new-guidance-to-diagnose-and-treat-tumor-induced-osteomalacia-tio-2023-1/

Activity Faculty Aliya Khan MD, FRCPC, FACP, FACE, FASBMR Clinical Professor of Medicine Director, Calcium Disorders Clinic Director, Fellowship in Metabolic Bone Disease McMaster University

Target Audience: This activity is designed to meet the educational needs of physicians specializing in neurology, orthopedics, internal medicine/general practice, rheumatology, endocrinology, pain management, and radiology, who may be involved in the care for individuals with TIO. Other healthcare providers may also take part.

Learning Objectives: After participating in the activity, learners should be better able to • Describe the latest recommendations for diagnosing patients with TIO• Describe the latest recommendations for treating patients with TIO

Accreditation and Credit Designation: In support of improving patient care, this activity has been planned and implemented by the American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credits. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other members of the care team will receive a certificate of participation.

Disclosure Statement: According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows: Faculty Educator Dr. Khan discloses the following relevant financial relationships with ineligible companies to disclose: • Advisory Board/Consultant: Amgen, Ascendis, Alexion • Grant/Research support: Ascendis, Alexion, Amolyt • Speakers Bureaus: Amgen, Ascendis, Alexion

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically and draw conclusions only after careful consideration of all available scientific information.

Method of Participation: There are no fees to participate in the activity. Participants must review the activity information, including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments at: https://checkrare.com/learning/p-new-guidance-to-diagnose-and-treat-tumor-induced-osteomalacia-tio-2023-1/. Your certificate will be emailed to you in within 30 days.

Privacy For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

For any questions, please contact: CEServices@academycme.org Copyright © 2023.
This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/57880665Fri, 01 Dec 2023 19:48:27 +0000CheckRare EditorsJointly Provided by the American Academy of CME and CheckRare CE Support for this accredited continuing education activity has been made possible through an educational grant from Kyowa Kirin. Estimated time to complete: 0.50 hours Start date:...
To earn credit, go to https://checkrare.com/learning/p-new-guidance-to-diagnose-and-treat-tumor-induced-osteomalacia-tio-2023-1/

Activity Faculty Aliya Khan MD, FRCPC, FACP, FACE, FASBMR Clinical Professor of Medicine Director, Calcium Disorders Clinic Director, Fellowship in Metabolic Bone Disease McMaster University

Target Audience: This activity is designed to meet the educational needs of physicians specializing in neurology, orthopedics, internal medicine/general practice, rheumatology, endocrinology, pain management, and radiology, who may be involved in the care for individuals with TIO. Other healthcare providers may also take part.

Learning Objectives: After participating in the activity, learners should be better able to • Describe the latest recommendations for diagnosing patients with TIO• Describe the latest recommendations for treating patients with TIO

Accreditation and Credit Designation: In support of improving patient care, this activity has been planned and implemented by the American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credits. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other members of the care team will receive a certificate of participation.

Disclosure Statement: According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows: Faculty Educator Dr. Khan discloses the following relevant financial relationships with ineligible companies to disclose: • Advisory Board/Consultant: Amgen, Ascendis, Alexion • Grant/Research support: Ascendis, Alexion, Amolyt • Speakers Bureaus: Amgen, Ascendis, Alexion

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically and draw conclusions only after careful consideration of all available scientific information.

Method of Participation: There are no fees to participate in the activity. Participants must review the activity information, including the learning...]]>2065cme,rare-cancer,rare-disease,tio,tumor-induced-osteomalaciafalsefullhttps://www.spreaker.com/episode/cushing-s-disease-research-highlights-endo-2023--57255951
Faculty
Lisa Nachtigall, MD
Clinical Director, Neuroendocrine & Pituitary Tumor Clinical Center
Massachusetts General Hospital
Associate Professor of Medicine
Harvard Medical School

Learning Objectives
- After participating in the activity, learners should be better able to:
- Describe the latest research being presented to better manage individuals with Cushing’s disease and its clinical relevance.
- Share new information with their clinical team.

Supported by an educational grant from Recordati Rare Diseases, Inc.

To obtain CME credit, go to https://checkrare.com/learning/p-cushings-disease-research-highlights-endo-2023/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/57255951Mon, 16 Oct 2023 15:16:04 +0000CheckRare EditorsThis 30-min CME program provides an overview of the latest clinical research presented at ENDO 2023 involving Cushing’s disease. Faculty Lisa Nachtigall, MD Clinical Director, Neuroendocrine & Pituitary Tumor Clinical Center Massachusetts General...
Faculty
Lisa Nachtigall, MD
Clinical Director, Neuroendocrine & Pituitary Tumor Clinical Center
Massachusetts General Hospital
Associate Professor of Medicine
Harvard Medical School

Learning Objectives
- After participating in the activity, learners should be better able to:
- Describe the latest research being presented to better manage individuals with Cushing’s disease and its clinical relevance.
- Share new information with their clinical team.

Supported by an educational grant from Recordati Rare Diseases, Inc.

To obtain CME credit, go to https://checkrare.com/learning/p-cushings-disease-research-highlights-endo-2023/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1459cushings,cushing's,endo2023,orphan-disease,orphan-drug,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/cme-managing-cardiomyopathies-in-lysosomal-disorders--57081696
This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. To receive credit for this program, go to https://checkrare.com/learning/p-ldrtc2022-webinar2-managing-cardiomyopathies-in-lysosomal-disorders/

Speakers
Ozlem Goker-Alpan, MD, Founder and President, LDRTC
John Jefferies, MD, Governor, American College Cardiology, Tennessee Chapter President, American Heart Association, Mid-South Chapter Research Member, St. Jude Children’s Research Hospital Team Cardiologist, Memphis Grizzlies


.Learning ObjectivesAt the end of this activity, participants should be able to:

• Describe the role of the cardiologist in the team approach to care
• Describe best practices to monitor cardiac symptoms in lysosomal disorders
• Describe best practices to treat cardiac symptoms in lysosomal disorders

Support for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics and Chiesi USA.




Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/57081696Thu, 05 Oct 2023 11:09:36 +0000CheckRare EditorsThis CME/CE activity describes the pathophysiologies and management options for lysosomal disease patients with cardiomyopathies. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research...
This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. To receive credit for this program, go to https://checkrare.com/learning/p-ldrtc2022-webinar2-managing-cardiomyopathies-in-lysosomal-disorders/

Speakers
Ozlem Goker-Alpan, MD, Founder and President, LDRTC
John Jefferies, MD, Governor, American College Cardiology, Tennessee Chapter President, American Heart Association, Mid-South Chapter Research Member, St. Jude Children’s Research Hospital Team Cardiologist, Memphis Grizzlies


.Learning ObjectivesAt the end of this activity, participants should be able to:

• Describe the role of the cardiologist in the team approach to care
• Describe best practices to monitor cardiac symptoms in lysosomal disorders
• Describe best practices to treat cardiac symptoms in lysosomal disorders

Support for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics and Chiesi USA.




Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>4429fabry,gaucher,lysosomal-storage,mps,pompe,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/acromegaly-research-highlights-endo-2023--57081493
Activity Faculty Wenyu Huang, MD, PhD Associate Professor Northwestern University Feinberg School of Medicine Chicago, IL

Support for this accredited continuing education activity has been made possible through educational grants from Recordati Rare Diseases Inc. and Ipsen Biopharmaceuticals, Inc.
To earn a CME credit, go to https://checkrare.com/learning/p-acromegaly-research-highlights-endo-2023/

Estimated time to complete: 0.5 hours Start date: Sep 30, 2023 End date: September 29, 2024

Target Audience: This activity has been designed to meet the educational needs of physicians specializing in endocrinology, neurosurgery, and family practice who may care for individuals with acromegaly. Other healthcare providers may also participate. Learning
Objectives After participating in the activity, learners should be better able to • Describe the latest research being presented to better manage individuals with acromegaly and its clinical relevance.

Accreditation and Credit Designation In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Other HCPs: Other members of the care team will receive a certificate of participation.

Disclosure Statement According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows: Dr. Huang discloses the following relevant financial relationships with ineligible companies to disclose: Contracted research: Amryt Pharma, CinCor Pharma, Corcept Therapeutics, Crinetics Pharmaceuticals, Ionis Pharmaceuticals, Ascendis Pharma, Spruce Bioscience Consulting: Novo Nordisk, Crinetics Pharmaceuticals, Spruce Bioscience o Consulting and Speaking: Amryt Pharma, Recordati Rare Diseases

Other planners for this activity have no relevant financial relationships with any ineligible companies. This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE.
This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity.

To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.
Privacy For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm

For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact For any questions, please contact: CEServices@academycme.org Copyright © 2023.

This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/57081493Thu, 05 Oct 2023 10:58:54 +0000CheckRare EditorsThis 30-minute CME program highlights the latest clinical research about acromegaly, a rare, endocrine disorder. Activity Faculty Wenyu Huang, MD, PhD Associate Professor Northwestern University Feinberg School of Medicine Chicago, IL Support for...
Activity Faculty Wenyu Huang, MD, PhD Associate Professor Northwestern University Feinberg School of Medicine Chicago, IL

Support for this accredited continuing education activity has been made possible through educational grants from Recordati Rare Diseases Inc. and Ipsen Biopharmaceuticals, Inc.
To earn a CME credit, go to https://checkrare.com/learning/p-acromegaly-research-highlights-endo-2023/

Estimated time to complete: 0.5 hours Start date: Sep 30, 2023 End date: September 29, 2024

Target Audience: This activity has been designed to meet the educational needs of physicians specializing in endocrinology, neurosurgery, and family practice who may care for individuals with acromegaly. Other healthcare providers may also participate. Learning
Objectives After participating in the activity, learners should be better able to • Describe the latest research being presented to better manage individuals with acromegaly and its clinical relevance.

Accreditation and Credit Designation In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Other HCPs: Other members of the care team will receive a certificate of participation.

Disclosure Statement According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows: Dr. Huang discloses the following relevant financial relationships with ineligible companies to disclose: Contracted research: Amryt Pharma, CinCor Pharma, Corcept Therapeutics, Crinetics Pharmaceuticals, Ionis Pharmaceuticals, Ascendis Pharma, Spruce Bioscience Consulting: Novo Nordisk, Crinetics Pharmaceuticals, Spruce Bioscience o Consulting and Speaking: Amryt Pharma, Recordati Rare Diseases

Other planners for this activity have no relevant financial relationships with any ineligible companies. This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE.
This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity.

To receive CME credit for your...]]>2161acromegaly,endocrine,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/thyroid-eye-disease-overview-diagnosis-and-treatment-options--57048143
TED is a rare autoimmune disease that can dramatically impact a person’s vision. The condition often occurs in people with hyperthyroidism or Graves’ disease. Common symptoms can include upper eyelid retraction, dry eyes, inflammation, light sensitivity, as well as the sensation of a foreign body present in the eye.

TED is most often associated with Graves’ disease (GD), but also can occur in association with hypothyroidism, euthyroidism, and Hashimoto’s thyroiditis. GD affects approximately 1% to 2% of the adult population, with an estimated 40% of GD patients subsequently developing TED over the course of their lifetime. The onset of TED typically occurs between 30 and 50 years of age, with the disease course more severe after age 50.

Dr. Douglas has been appointed as Chief Scientific Officer at Sling Therapeutics.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/57048143Tue, 03 Oct 2023 16:38:15 +0000CheckRare EditorsRaymond Douglas, MD, PhD, a world-leading clinician and thought leader in thyroid eye disease (TED) who has been integral to developing therapeutics for the disease, provides an overview of TED, including diagnosis challenges and current and emerging...
TED is a rare autoimmune disease that can dramatically impact a person’s vision. The condition often occurs in people with hyperthyroidism or Graves’ disease. Common symptoms can include upper eyelid retraction, dry eyes, inflammation, light sensitivity, as well as the sensation of a foreign body present in the eye.

TED is most often associated with Graves’ disease (GD), but also can occur in association with hypothyroidism, euthyroidism, and Hashimoto’s thyroiditis. GD affects approximately 1% to 2% of the adult population, with an estimated 40% of GD patients subsequently developing TED over the course of their lifetime. The onset of TED typically occurs between 30 and 50 years of age, with the disease course more severe after age 50.

Dr. Douglas has been appointed as Chief Scientific Officer at Sling Therapeutics.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>592rare-disease,rare-disorder,thyroid-eye-diseasefalsefullhttps://www.spreaker.com/episode/myasthenia-gravis-research-highlights-aan-2023--56111112
Treatment of myasthenia gravis is highly individualized and depends greatly on the myasthenia gravis subtype of each patient as well as each patient’s comorbidities. There are currently four drugs approved by the FDA, eculizumab, efgartigimod, ravulizumab, and rozanolixizumab. There are also treatments in development. Clinical trial data on these therapies were presented at the American Academy of Neurology Annual Meeting (AAN 2023) held in Boston, MA.

This CME program, hosted by Vera Bril, MD, of the University Hospital Network in Toronto, Canada, provides an overview of the latest clinical research presented at AAN 2023 focused on myasthenia gravis.

Supported by educational grants from argenx US, Inc. and UCB Inc. For complete activity information and to obtain CME credit, please, go to https://checkrare.com/learning/p-myasthenia-gravis-research-highlights-aan-2023/



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/56111112Sat, 15 Jul 2023 13:23:51 +0000CheckRare EditorsThis 30-minute CME program highlights the latest clinical research about myasthenia gravis, a rare, autoimmune disease that targets the neuromuscular junction. Treatment of myasthenia gravis is highly individualized and depends greatly on the...
Treatment of myasthenia gravis is highly individualized and depends greatly on the myasthenia gravis subtype of each patient as well as each patient’s comorbidities. There are currently four drugs approved by the FDA, eculizumab, efgartigimod, ravulizumab, and rozanolixizumab. There are also treatments in development. Clinical trial data on these therapies were presented at the American Academy of Neurology Annual Meeting (AAN 2023) held in Boston, MA.

This CME program, hosted by Vera Bril, MD, of the University Hospital Network in Toronto, Canada, provides an overview of the latest clinical research presented at AAN 2023 focused on myasthenia gravis.

Supported by educational grants from argenx US, Inc. and UCB Inc. For complete activity information and to obtain CME credit, please, go to https://checkrare.com/learning/p-myasthenia-gravis-research-highlights-aan-2023/



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1579autoimmune,disease,gravis,junction,myasthenia,myasthenia-gravis,neuromuscular,rare-disease,rare-disorder,rare-neuromuscular-diseasefalsefullhttps://www.spreaker.com/episode/building-and-maintaining-a-multidisciplinary-team-for-lysosomal-disorders--55637804
Speakers

• Ozlem Goker-Alpan, MD Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)
• Al-Hertani, MD, Director of the BCH Metabolism and Lysosomal Programs, Boston Children’s Hospita; lAssociate Professor of Pediatrics, Harvard Medical School

Learning Objectives
At the end of this activity, participants should be able to:

• Describe the need for a team approach to care
• Describe best practices to build a multidisciplinary team for a new patient
• Describe best practices to maintain a multidisciplinary team

Support for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics, and Chiesi USA.

To earn credit for this CME, go to https://checkrare.com/learning/p-building-and-maintaining-a-multidisciplinary-team-for-lysosomal-disorders/



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/55637804Fri, 30 Jun 2023 22:02:28 +0000CheckRare EditorsThis continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians,...
Speakers

• Ozlem Goker-Alpan, MD Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)
• Al-Hertani, MD, Director of the BCH Metabolism and Lysosomal Programs, Boston Children’s Hospita; lAssociate Professor of Pediatrics, Harvard Medical School

Learning Objectives
At the end of this activity, participants should be able to:

• Describe the need for a team approach to care
• Describe best practices to build a multidisciplinary team for a new patient
• Describe best practices to maintain a multidisciplinary team

Support for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics, and Chiesi USA.

To earn credit for this CME, go to https://checkrare.com/learning/p-building-and-maintaining-a-multidisciplinary-team-for-lysosomal-disorders/



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>3295amicus,chiesi,fabry,gaucher,lysosomal,lysosomal-storage,mps,multidisciplinary-team,pompe,rare-disease,rare-disorder,rare-genetic-disease,sanofi,takedafalse22fullhttps://www.spreaker.com/episode/myasthenia-gravis-and-the-need-for-targeted-therapies--55310038
Myasthenia gravis is an autoimmune, neuromuscular disorder characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eyes, eyelids, facial expressions, chewing, talking, and swallowing. The presence of antibodies against acetylcholine receptors in the neuromuscular junction usually causes the condition.

As Dr. Ramchandren explains, myasthenia gravis is an autoimmune disease in which the person’s own immune system attacks ACh-receptors on the neuromuscular junction. The current standard of care for myasthenia gravis is to suppress the immune system, usually with broad-acting immunosuppressants. Dr. Ramchandren believes a more targeted approach would be of greater benefit to patients. Janssen is currently developing nipocalimab, a monoclonal antibody that binds to neonatal Fc receptors (FcRn). FcRn is a protein that naturally drives IgG recycling in the body. By blocking FcRn, nipocalimab reduces the levels of IgG autoantibodies while preserving the rest of the immune system.

Recently, in a phase 2 clinical trial, patients with myasthenia gravis were given nipocalimab. As a result, a dose-dependent rapid effect was observed on various disease biomarkers, including reduced titers of autoantibodies. Currently, A phase 3 clinical trial is underway (NCT04951622). To learn more about this and other autoimmune disorders, go to checkrare.com/diseases/autoimmune-auto-inflammatory-disorders/



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/55310038Wed, 28 Jun 2023 14:34:42 +0000CheckRare EditorsSindhu Ramchandren, MD, Global Clinical Leader at Janssen Pharmaceuticals, explains the pathophysiology of myasthenia gravis and the need for more targeted therapies. Myasthenia gravis is an autoimmune, neuromuscular disorder characterized by...
Myasthenia gravis is an autoimmune, neuromuscular disorder characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eyes, eyelids, facial expressions, chewing, talking, and swallowing. The presence of antibodies against acetylcholine receptors in the neuromuscular junction usually causes the condition.

As Dr. Ramchandren explains, myasthenia gravis is an autoimmune disease in which the person’s own immune system attacks ACh-receptors on the neuromuscular junction. The current standard of care for myasthenia gravis is to suppress the immune system, usually with broad-acting immunosuppressants. Dr. Ramchandren believes a more targeted approach would be of greater benefit to patients. Janssen is currently developing nipocalimab, a monoclonal antibody that binds to neonatal Fc receptors (FcRn). FcRn is a protein that naturally drives IgG recycling in the body. By blocking FcRn, nipocalimab reduces the levels of IgG autoantibodies while preserving the rest of the immune system.

Recently, in a phase 2 clinical trial, patients with myasthenia gravis were given nipocalimab. As a result, a dose-dependent rapid effect was observed on various disease biomarkers, including reduced titers of autoantibodies. Currently, A phase 3 clinical trial is underway (NCT04951622). To learn more about this and other autoimmune disorders, go to checkrare.com/diseases/autoimmune-auto-inflammatory-disorders/



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>421ach-receptors,autoimmune,janssen-pharmaceuticals,monoclonal-antibody,myasthenia-gravis,nct04951622,neuromuscular-disorder,nipocalimab,pathophysiology,rare-autoimmune,rare-disease,rare-disorder,sindhu-ramchandren,targeted-therapiesfalse21fullhttps://www.spreaker.com/episode/waiha-treatment-options-current-and-in-development-chapter-3--54074437
This 60-minute CME program, hosted by Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes current treatment options, and treatments in development, for patients with wAIHA.

Supported by an educational grant from Janssen Biotech.

For complete activity information and to obtain CME credit, please, go to



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/54074437Fri, 02 Jun 2023 10:32:46 +0000CheckRare EditorsWarm autoimmune hemolytic anemia (wAIHA) is the most common type (60-70%) of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis. Current...
This 60-minute CME program, hosted by Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes current treatment options, and treatments in development, for patients with wAIHA.

Supported by an educational grant from Janssen Biotech.

For complete activity information and to obtain CME credit, please, go to



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>2211autoimmune,rare-autoimmune-disease,rare-disease,waiha,waiha-treatment-optionsfalsefullhttps://www.spreaker.com/episode/waiha-complications-chapter-2--54074407
Current recommendations for managing people with wAIHA are largely based on case series and retrospective studies involving off-label medications. Also, while there are currently no medications specifically approved to treat wAIHA, data are emerging on new therapies under investigation which may impact treatment in the future.

This 60-minute CME program, hosted by Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes common complications that can impact the management of patients with wAIHA.

Supported by an educational grant from Janssen Biotech.

For complete activity information and to obtain CME credit, please, go to www.checkrare.com



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/54074407Fri, 02 Jun 2023 10:27:55 +0000CheckRare EditorsWarm autoimmune hemolytic anemia (wAIHA) is the most common type (60-70%) of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis. Current...
Current recommendations for managing people with wAIHA are largely based on case series and retrospective studies involving off-label medications. Also, while there are currently no medications specifically approved to treat wAIHA, data are emerging on new therapies under investigation which may impact treatment in the future.

This 60-minute CME program, hosted by Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes common complications that can impact the management of patients with wAIHA.

Supported by an educational grant from Janssen Biotech.

For complete activity information and to obtain CME credit, please, go to www.checkrare.com



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>825autoimmune-disorder,cme,rare-autoimmune-disease,rare-disease,waiha,waiha-complicationsfalsefullhttps://www.spreaker.com/episode/waiha-pathophysiology-and-diagnosis-chapter-1--54074343
Current recommendations for managing people with wAIHA are largely based on case series and retrospective studies involving off-label medications. Also, while there are currently no medications specifically approved to treat wAIHA, data are emerging on new therapies under investigation which may impact treatment in the future.

This 60-minute CME program, hosted by Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes best practices to diagnose patients with wAIHA.
Supported by an educational grant from Janssen Biotech.

For complete activity information and to obtain CME credit, please, go to www.checkrare.com



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/54074343Fri, 02 Jun 2023 10:22:30 +0000CheckRare EditorsWarm autoimmune hemolytic anemia (wAIHA) is the most common type (60-70%) of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis. Current...
Current recommendations for managing people with wAIHA are largely based on case series and retrospective studies involving off-label medications. Also, while there are currently no medications specifically approved to treat wAIHA, data are emerging on new therapies under investigation which may impact treatment in the future.

This 60-minute CME program, hosted by Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes best practices to diagnose patients with wAIHA.
Supported by an educational grant from Janssen Biotech.

For complete activity information and to obtain CME credit, please, go to www.checkrare.com



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1151autoimmune-disease,ra,rare-autoimmune,rare-disease,waiha,waiha-diagnosis,waiha-pathophysiologyfalsefullhttps://www.spreaker.com/episode/warm-autoimmune-hemolytic-anemia-waiha-full-program--54021903
This 60-minute CME program, hosted by Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes current best practices to manage patients with wAIHA.
Supported by an educational grant from Janssen Biotech.

For complete activity information and to obtain CME credit, please, go to www.checkrare.com

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/54021903Fri, 02 Jun 2023 10:14:18 +0000CheckRare EditorsWarm autoimmune hemolytic anemia (wAIHA) is the most common type (60-70%) of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis. Current...
This 60-minute CME program, hosted by Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes current best practices to manage patients with wAIHA.
Supported by an educational grant from Janssen Biotech.

For complete activity information and to obtain CME credit, please, go to www.checkrare.com

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>4152autoimmune-hemolytic-anemia,immunoglobulin,rare-autoimmune-disorder,rare-disease,rare-disorder,waiha,warm-autoimmune-hemolytic-anemfalsefullhttps://www.spreaker.com/episode/cme-fabry-disease-research-highlights--53695106
Characteristic features of Fabry disease include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke.

This CME program, hosted by Staci Kallish, DO, Associate Professor of Clinical Medicine at the University of Pennsylvania Health System Penn Medicine, provides an overview of the latest clinical research presented at WORLDSymposium 2023 focused on Fabry disease.

Supported by educational grants from Amicus Therapeutics and Chiesi USA.
To watch the video and obtain CME credit, go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/53695106Sun, 30 Apr 2023 11:26:24 +0000CheckRare EditorsThis 30-minute CME program highlights the latest clinical research about Fabry disease, is a rare X-linked lysosomal disorder that results in the cellular buildup of globotriaosylceramide. Characteristic features of Fabry disease include...
Characteristic features of Fabry disease include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke.

This CME program, hosted by Staci Kallish, DO, Associate Professor of Clinical Medicine at the University of Pennsylvania Health System Penn Medicine, provides an overview of the latest clinical research presented at WORLDSymposium 2023 focused on Fabry disease.

Supported by educational grants from Amicus Therapeutics and Chiesi USA.
To watch the video and obtain CME credit, go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1919acroparesthesias,amicus,angiokeratomas,chiesi,corneal,fabry-disease,gastrointestinal,hearing-loss,hypohidrosis,lysosomal,opacity,problems,rare-disease,rare-disorder,staci-kallish,tinnitusfalsefullhttps://www.spreaker.com/episode/gene-therapy-to-treat-duchenne-muscular-dystrophy-preliminary-clinical-trial-results--52454371
Duchenne muscular dystrophy is the most common and most severe form of muscular dystrophy. It is caused by mutations in the DMD gene that lead to loss of dystrophin and progressive muscle loss. Symptoms of muscle loss most often appear between the ages of 3 to 5 years, and most children with this disease will be wheelchair dependent by their early teens.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52454371Mon, 20 Mar 2023 07:15:02 +0000CheckRare EditorsLisa Borland, Vice President of Global Medical Affairs at Sarepta Therapeutics, discusses the clinical development program evaluating the safety and efficacy of SRP-9001, an investigational gene transfer therapy for Duchenne muscular dystrophy. Data...
Duchenne muscular dystrophy is the most common and most severe form of muscular dystrophy. It is caused by mutations in the DMD gene that lead to loss of dystrophin and progressive muscle loss. Symptoms of muscle loss most often appear between the ages of 3 to 5 years, and most children with this disease will be wheelchair dependent by their early teens.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>419clinical-development,clinical-trials,duchenne,rare-disease,sarpta-therapeuticsfalse2fullhttps://www.spreaker.com/episode/growth-hormone-deficiency-research-highlights--52434658
GHD is a rare endocrine disorder characterized by insufficient levels of growth hormone being secreted from the anterior pituitary gland. A hallmark of prolonged GHD is growth retardation or deceleration, as well as short stature. Additionally, growth hormone deficiency is associated with metabolic abnormalities, impaired cardiovascular function, fatigue, delayed or incomplete puberty, osteoporosis, and reduced muscle strength. Given the varied clinical profile of these patients, GHD should be managed by a multidisciplinary team lead by a pediatric or adult endocrinologist. There are numerous treatment options and options in development for persons with GHD and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52434658Mon, 13 Mar 2023 07:25:01 +0000CheckRare EditorsThis 15-minute CME program highlights the latest clinical research about Growth Hormone Deficiency (GHD) and is hosted by a leading expert in GHD, Paul Saenger, of the Albert Einstein College of Medicine. GHD is a rare endocrine disorder...
GHD is a rare endocrine disorder characterized by insufficient levels of growth hormone being secreted from the anterior pituitary gland. A hallmark of prolonged GHD is growth retardation or deceleration, as well as short stature. Additionally, growth hormone deficiency is associated with metabolic abnormalities, impaired cardiovascular function, fatigue, delayed or incomplete puberty, osteoporosis, and reduced muscle strength. Given the varied clinical profile of these patients, GHD should be managed by a multidisciplinary team lead by a pediatric or adult endocrinologist. There are numerous treatment options and options in development for persons with GHD and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1144endocrine-disorder,ghd,growth-hormone-deficiency,rare-diseasefalse2fullhttps://www.spreaker.com/episode/zero-relapses-in-patients-with-nmosd-given-ravulizumab--52434538
NMOSD is a rare central nervous disorder that primarily affects the spinal cord and optic nerves. Symptoms of NMOSD may include blindness in one or both eyes, weakness or paralysis of arms or legs, spasming, loss of sensation, uncontrollable vomiting and hiccups, and bladder/bowel problems due to spinal cord damage. Relapse is very common in persons with NMOSD and episodes can be severe enough to cause permanent disability.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52434538Mon, 06 Mar 2023 08:15:02 +0000CheckRare EditorsSean J. Pittock, MD, Director of Mayo Clinic's Center for Multiple Sclerosis and Autoimmune Neurology and of Mayo's Neuroimmunology Laboratory discusses the latest results from Phase III CHAMPION-NMOSD trial recently presented at European Committee...
NMOSD is a rare central nervous disorder that primarily affects the spinal cord and optic nerves. Symptoms of NMOSD may include blindness in one or both eyes, weakness or paralysis of arms or legs, spasming, loss of sensation, uncontrollable vomiting and hiccups, and bladder/bowel problems due to spinal cord damage. Relapse is very common in persons with NMOSD and episodes can be severe enough to cause permanent disability.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>394autoimmune,autoimmune-neurology,mayo-clinic,multiple-sclerosis,neurology,nmosd,rare-diseasefalse2fullhttps://www.spreaker.com/episode/hemophilia-a-drug-given-priority-review-status--52434388
Hemophilia A is a rare bleeding disorder due to a lack of factor VIII. Hemophilia A occurs mostly in males. People with hemophilia A can experience bleeding episodes that can cause pain, irreversible joint damage and life-threatening hemorrhages. Factor replacement therapy remains a cornerstone of care and can be used across multiple treatment scenarios.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52434388Mon, 27 Feb 2023 08:05:01 +0000CheckRare EditorsSteven Pipe, MD, Professor of Pediatrics and Pathology, and Pediatric Medical Director of the Hemophilia and Coagulation Disorders Program at the University of Michigan, discusses the recent announcement of efanesoctocogg alfa being given breakthrough...
Hemophilia A is a rare bleeding disorder due to a lack of factor VIII. Hemophilia A occurs mostly in males. People with hemophilia A can experience bleeding episodes that can cause pain, irreversible joint damage and life-threatening hemorrhages. Factor replacement therapy remains a cornerstone of care and can be used across multiple treatment scenarios.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>278bleeding-disorder,drug,efanesoctocog-alfa,fda,hemophillia,rare-disease,university-of-michiganfalse2fullhttps://www.spreaker.com/episode/a-brief-history-of-newborn-screening--52434315
Newborn screening began with phenylketonuria (PKU). In the 1960s, Dr. Robert Guthrie showed the value of developing a NBS program to screen for PKU since it was a genetic disease that can lead to permanent damage to the body if not treated early. Since babies with PKU appear normal at birth, NBS is important to establish a proper treatment/diet plan as soon as possible.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52434315Mon, 20 Feb 2023 08:50:03 +0000CheckRare EditorsGerald Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, provides a brief history on newborn screening. Newborn screening began with phenylketonuria (PKU). In the 1960s, Dr. Robert Guthrie showed...
Newborn screening began with phenylketonuria (PKU). In the 1960s, Dr. Robert Guthrie showed the value of developing a NBS program to screen for PKU since it was a genetic disease that can lead to permanent damage to the body if not treated early. Since babies with PKU appear normal at birth, NBS is important to establish a proper treatment/diet plan as soon as possible.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>432newborn-screening,phenylketonuria,pku,rare-disease,upmcfalse2fullhttps://www.spreaker.com/episode/ut-southwestern-medical-center-a-nord-center-of-excellence--52433967
There are currently 31 NORD Rare Disease Centers of Excellence across the United States. The primary goal for establishing this network was to advance care and expand access for rare disease patients. The second goal was to enable rare disease experts to work collaboratively, which will hopefully lead to faster progress in terms of diagnoses, treatments, and development of guidelines and new therapies.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52433967Mon, 13 Feb 2023 08:30:01 +0000CheckRare EditorsAngela Scheuerle, MD, Medical Geneticist at the UT Southwestern Medical Center, discusses National Organization for Rare Disorders’ (NORD) Rare Disease Centers of Excellence of which UT Southwestern is one. There are currently 31 NORD Rare Disease...
There are currently 31 NORD Rare Disease Centers of Excellence across the United States. The primary goal for establishing this network was to advance care and expand access for rare disease patients. The second goal was to enable rare disease experts to work collaboratively, which will hopefully lead to faster progress in terms of diagnoses, treatments, and development of guidelines and new therapies.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>235nord,nord-coe,rare-disease,ut-southwestern-medical-centerfalse2fullhttps://www.spreaker.com/episode/safety-and-efficacy-of-pln-74809-to-treat-idiopathic-pulmonary-fibrosis--52433821
IPF is a chronic, progressive, fibrosing lung disease with few treatment options and a poor prognosis. Common symptoms of IPF include shortness of breath and difficulty performing daily activities, such as walking and talking. Currently, there is no pharmacological cure for IPF with neither of the approved two therapies demonstrating an ability to stop the progression of the disease.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52433821Mon, 06 Feb 2023 08:05:01 +0000CheckRare EditorsEric LeFebvre, MD, Chief Medical Officer at Pliant Therapeutics, discusses positive safety and efficacy data from the phase 2a INTEGRIS-IPF clinical trial of PLN-74809 in patients with idiopathic pulmonary fibrosis (IPF). IPF is a chronic,...
IPF is a chronic, progressive, fibrosing lung disease with few treatment options and a poor prognosis. Common symptoms of IPF include shortness of breath and difficulty performing daily activities, such as walking and talking. Currently, there is no pharmacological cure for IPF with neither of the approved two therapies demonstrating an ability to stop the progression of the disease.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>744lung-disease,pliant-therapeutics,pulmonary-fibrosis,rare-diseasefalse2fullhttps://www.spreaker.com/episode/new-report-estimates-the-number-of-rare-diseases-is-more-than-10-000--52433741
As Mr. Lamoreaux explains, ‘The Power of Being Counted’ was developed by RARE-X to determine a more accurate count of the actual number of rare diseases. Determining this number is difficult, largely due to the lack of a global definition for rare disease. Getting an accurate count is important in order to represent the full spectrum of the rare disease community and describe the true socioeconomic impact on the lives of patients, families, and society.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52433741Mon, 30 Jan 2023 08:00:02 +0000CheckRare EditorsKirk Lamoreaux, Senior Healthcare Strategist, discusses ‘The Power of Being Counted,’ a report that was recently announced an estimated 10,867 rare diseases are known. As Mr. Lamoreaux explains, ‘The Power of Being Counted’ was developed by RARE-X to...
As Mr. Lamoreaux explains, ‘The Power of Being Counted’ was developed by RARE-X to determine a more accurate count of the actual number of rare diseases. Determining this number is difficult, largely due to the lack of a global definition for rare disease. Getting an accurate count is important in order to represent the full spectrum of the rare disease community and describe the true socioeconomic impact on the lives of patients, families, and society.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>367definitions,orphanet,populations,rare-disease,rare-x,statisticsfalse2fullhttps://www.spreaker.com/episode/cme-cushing-s-disease-cushing-s-syndrome-research-highlights--52568784
Educational Support for this activity was provided by Xeris Pharmaceuticals, Inc and Recordati Rare Diseases, Inc.

To receive credit for this activity, please visit https://checkrare.com/learning-center/courses/



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52568784Sat, 28 Jan 2023 13:07:14 +0000CheckRare EditorsThis CME program, hosted by Richard Auchus, MD, PhD Professor at the University of Michigan, provides an overview of the latest clinical research presented at the Endocrine Society Annual Meeting that involved Cushing’s disease and Cushing’s syndrome....
Educational Support for this activity was provided by Xeris Pharmaceuticals, Inc and Recordati Rare Diseases, Inc.

To receive credit for this activity, please visit https://checkrare.com/learning-center/courses/



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1795auchus,cme,cushings,cushings-disease,rare-disease,richard-auchusfalse2fullhttps://www.spreaker.com/episode/positive-updated-results-from-majestec-1-study-in-relapsed-refractory-multiple-myeloma--52433452
Multiple myeloma is a rare blood cancer associated with uncontrolled growth of plasma cells. Abnormal plasma cells – also known as myeloma cells – interfere with the production of healthy blood cells in the bone marrow. Symptoms of multiple myeloma may include: bone pain (particularly in the chest and spine), frequent infections, weakness or numbness in the legs, fatigue, confusion, excessive thirst, and constipation. While the disease is treatable, relapses are common and some patients are refractory to first line, and subsequent, therapies.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52433452Mon, 23 Jan 2023 09:30:01 +0000CheckRare EditorsAjay K. Nooka, MD, Associate Professor of Hematology and Medical Oncology at Emory School of Medicine, discusses the updated efficacy and safety results from the phase 1/2 MajesTEC-1 study evaluating teclistamab in patients with relapsed or refractory...
Multiple myeloma is a rare blood cancer associated with uncontrolled growth of plasma cells. Abnormal plasma cells – also known as myeloma cells – interfere with the production of healthy blood cells in the bone marrow. Symptoms of multiple myeloma may include: bone pain (particularly in the chest and spine), frequent infections, weakness or numbness in the legs, fatigue, confusion, excessive thirst, and constipation. While the disease is treatable, relapses are common and some patients are refractory to first line, and subsequent, therapies.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>480blood-cancer,cancer,emory-school-of-medicine,multiple-myeloma,rare-diseasefalse2fullhttps://www.spreaker.com/episode/cme-pulmonary-arterial-hypertension-pah-research-highlights--52448356
Symptoms of PAH include shortness of breath (dyspnea) especially during exercise, chest pain, and fainting episodes. The progressive nature of this disease means that an individual may experience only mild symptoms at first, but will eventually require treatment and medical care to maintain a reasonable quality of life. There are numerous treatment options and options in development for persons with PAH and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research.

This CME program, hosted by Jean Elwing, MD, of the University of Cincinnati College of Medicine. It is supported by an educational grant from Merck.

To earn CME credit, go to https://checkrare.com/learning/p-pah-research-highlights-chest-2022/



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52448356Sun, 15 Jan 2023 22:08:05 +0000CheckRare EditorsThis CME program highlights the latest clinical research about pulmonary arterial hypertension (PAH). PAH is a rare, progressive disorder characterized by high blood pressure in the pulmonary arteries. Symptoms of PAH include shortness of breath...
Symptoms of PAH include shortness of breath (dyspnea) especially during exercise, chest pain, and fainting episodes. The progressive nature of this disease means that an individual may experience only mild symptoms at first, but will eventually require treatment and medical care to maintain a reasonable quality of life. There are numerous treatment options and options in development for persons with PAH and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research.

This CME program, hosted by Jean Elwing, MD, of the University of Cincinnati College of Medicine. It is supported by an educational grant from Merck.

To earn CME credit, go to https://checkrare.com/learning/p-pah-research-highlights-chest-2022/



Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1682cme,jean-elwing,jean-elwing-md,medical-education,pah,pulmonary-arterial-hypertensti,rare-disease,rare-lung-diseasefalse2fullhttps://www.spreaker.com/episode/dr-farber-the-impact-of-covid-19-in-the-diagnosis-of-pulmonary-arterial-hypertension-pah--52432266
Pulmonary Arterial Hypertension, or PAH, is characterized by shortness of breath, dizziness, and chest pressure. Dr. Harrison Farber joins us to discuss the impact of COVID-19 on PAH patient care.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52432266Fri, 13 Jan 2023 14:51:23 +0000CheckRare EditorsDr. Harrison Farber, a pulmonologist and director of the Pulmonary Embolism Response Team at Tufts Medical Center discusses a chronic rare disease that affects the circulatory system in the lungs and directly affects the ability of the lungs to...
Pulmonary Arterial Hypertension, or PAH, is characterized by shortness of breath, dizziness, and chest pressure. Dr. Harrison Farber joins us to discuss the impact of COVID-19 on PAH patient care.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>339covid-19,pah,pulmonary-arterial-hypertensio,rare-disease,rare-disorder,rare-lung-disease,tufts-medical-centerfalse2fullhttps://www.spreaker.com/episode/cme-the-immune-system-and-lysosomal-diseases--52305374
At the end of this activity, participants should be able to:

• Describe how the immune system is involved in Lysosomal Storage Disorders.
• Review the pathophysiology of immune response reactions.
• Describe how to better manage patients with immune response reactions.
• Describe the best clinical practices to monitor the patients with immune response reactions.

Educational Support for this activity was provided by Takeda, Sanofi, and Chiesi.

To obtain CME credit, please visit https://checkrare.com/learning-center/courses/


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52305374Thu, 29 Dec 2022 12:42:58 +0000CheckRare EditorsThis CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and guest lecturer, Oral Alpan, MD, of Amerimmune in McLean, VA, provides an overview of our current...
At the end of this activity, participants should be able to:

• Describe how the immune system is involved in Lysosomal Storage Disorders.
• Review the pathophysiology of immune response reactions.
• Describe how to better manage patients with immune response reactions.
• Describe the best clinical practices to monitor the patients with immune response reactions.

Educational Support for this activity was provided by Takeda, Sanofi, and Chiesi.

To obtain CME credit, please visit https://checkrare.com/learning-center/courses/


Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>2931fabry,gaucher,genetics,lysosomal-storage,mps,ozlem-goker-alpan,pompe,rare-disease,rare-genetic-diseasefalse21fullhttps://www.spreaker.com/episode/growth-hormone-deficiency-research-highlights--52177652
GHD is a rare endocrine disorder characterized by insufficient levels of growth hormone being secreted from the anterior pituitary gland. A hallmark of prolonged GHD is growth retardation or deceleration, as well as short stature. Additionally, growth hormone deficiency is associated with metabolic abnormalities, impaired cardiovascular function, fatigue, delayed or incomplete puberty, osteoporosis, and reduced muscle strength. Given the varied clinical profile of these patients, GHD should be managed by a multidisciplinary team lead by a pediatric or adult endocrinologist. There are numerous treatment options and options in development for persons with GHD and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research.
Supported by an educational grant from Novo Nordisk, Inc.

To receive CME credit for this program, visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52177652Wed, 14 Dec 2022 16:37:35 +0000CheckRare EditorsThis 15-minute CME program highlights the latest clinical research about Growth Hormone Deficiency (GHD) and is hosted by a leading expert in GHD, Paul Saenger, of the Albert Einstein College of Medicine. GHD is a rare endocrine disorder...
GHD is a rare endocrine disorder characterized by insufficient levels of growth hormone being secreted from the anterior pituitary gland. A hallmark of prolonged GHD is growth retardation or deceleration, as well as short stature. Additionally, growth hormone deficiency is associated with metabolic abnormalities, impaired cardiovascular function, fatigue, delayed or incomplete puberty, osteoporosis, and reduced muscle strength. Given the varied clinical profile of these patients, GHD should be managed by a multidisciplinary team lead by a pediatric or adult endocrinologist. There are numerous treatment options and options in development for persons with GHD and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research.
Supported by an educational grant from Novo Nordisk, Inc.

To receive CME credit for this program, visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1144anterior-pituitary-gland,cme,ghd,growth-hormone,growth-hormone-deficiency,medical-education,paul-saenger,paul-saenger-md,rare-disease,rare-disorder,rare-endocrine-disorderfalsefullhttps://checkrare.com/podcasts/
PROS is a group of rare congenital disorders that lead to the overgrowth of parts of the body. PROS is caused by gain of function mutations in the PIK3CA gene. Specific disorders under the umbrella of PROS include fibroadipose hyperplasia, hemihyperplasia multiple lipomatosis (HHML), CLOVES syndrome, macrodactyly, fibroadipose infiltrating lipomatosis, megalencephaly-capillary malformation (MCAP), and dysplastic megalencephaly (DMEG).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52184100Wed, 14 Dec 2022 12:26:30 +0000CheckRare EditorsGuillaume Canaud, MD, PhD, of the Paris Descartes University, explains why it is important to regularly measure objective outcomes in persons with PiK3CA-related overgrowth syndrome (PROS). PROS is a group of rare congenital disorders that lead to...
PROS is a group of rare congenital disorders that lead to the overgrowth of parts of the body. PROS is caused by gain of function mutations in the PIK3CA gene. Specific disorders under the umbrella of PROS include fibroadipose hyperplasia, hemihyperplasia multiple lipomatosis (HHML), CLOVES syndrome, macrodactyly, fibroadipose infiltrating lipomatosis, megalencephaly-capillary malformation (MCAP), and dysplastic megalencephaly (DMEG).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>635guillaume-canaud,pik3ca,pros,rare-diseasefalse21fullhttps://www.spreaker.com/episode/zero-relapses-in-patients-with-nmosd-given-ravulizumab--52031465
NMOSD is a rare central nervous disorder that primarily affects the spinal cord and optic nerves. Symptoms of NMOSD may include blindness in one or both eyes, weakness or paralysis of arms or legs, spasming, loss of sensation, uncontrollable vomiting and hiccups, and bladder/bowel problems due to spinal cord damage. Relapse is very common in persons with NMOSD and episodes can be severe enough to cause permanent disability.

As Dr. Pittock explains, the CHAMPION-NMOSD study is a global Phase III, open-label, multicenter trial evaluating the safety and efficacy of ravulizumab in adults with AQP4-Ab+ NMOSD (n-58). The data presented by Dr. Pittock at ECTRIMS showed that no relapses were observed in patients receiving ravulizumab, with a median treatment duration of 73 weeks. Further, 100% of patients receiving ravulizumab remained relapse-free at 48 weeks, compared to 63% of patients in the external placebo arm.

To learn more about NMOSD and other rare neurologic disorders, visit checkrare.com/ neurology/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/52031465Mon, 28 Nov 2022 10:59:51 +0000CheckRare EditorsSean J. Pittock, MD, Director of Mayo Clinic's Center for Multiple Sclerosis and Autoimmune Neurology and of Mayo's Neuroimmunology Laboratory discusses the latest results from Phase III CHAMPION-NMOSD trial recently presented at European Committee...
NMOSD is a rare central nervous disorder that primarily affects the spinal cord and optic nerves. Symptoms of NMOSD may include blindness in one or both eyes, weakness or paralysis of arms or legs, spasming, loss of sensation, uncontrollable vomiting and hiccups, and bladder/bowel problems due to spinal cord damage. Relapse is very common in persons with NMOSD and episodes can be severe enough to cause permanent disability.

As Dr. Pittock explains, the CHAMPION-NMOSD study is a global Phase III, open-label, multicenter trial evaluating the safety and efficacy of ravulizumab in adults with AQP4-Ab+ NMOSD (n-58). The data presented by Dr. Pittock at ECTRIMS showed that no relapses were observed in patients receiving ravulizumab, with a median treatment duration of 73 weeks. Further, 100% of patients receiving ravulizumab remained relapse-free at 48 weeks, compared to 63% of patients in the external placebo arm.

To learn more about NMOSD and other rare neurologic disorders, visit checkrare.com/ neurology/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>394champion-nmosd,dr-pittock,ectrims,neuromyelitis-optica-spectrum,nmosd,rare-central-nervous-disorder,rare-disease,ravulizumab,sean-j-pittock-md,sean-pittock-mdfalsefullhttps://www.spreaker.com/episode/ut-southwestern-medical-center-a-nord-center-of-excellence--51909441
There are currently 31 NORD Rare Disease Centers of Excellence across the United States. The primary goal for establishing this network was to advance care and expand access for rare disease patients. The second goal was to enable rare disease experts to work collaboratively, which will hopefully lead to faster progress in terms of diagnoses, treatments, and development of guidelines and new therapies.

Many of the Centers of Excellence specialize in particular rare disease areas; for example, at UT Southwestern, they are best known for their work in lipid metabolism disorders and cholesterol diseases. Additionally, UT Southwestern can care for rare disease patients across the lifespan as they have rare disease programs for all ages and, for some rare diseases, have standardized programs to transition patients from youth- to adult-centered care.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/51909441Wed, 16 Nov 2022 10:49:57 +0000CheckRare EditorsAngela Scheuerle, MD, Medical Geneticist at the UT Southwestern Medical Center, discusses National Organization for Rare Disorders’ (NORD) Rare Disease Centers of Excellence of which UT Southwestern is one. There are currently 31 NORD Rare Disease...
There are currently 31 NORD Rare Disease Centers of Excellence across the United States. The primary goal for establishing this network was to advance care and expand access for rare disease patients. The second goal was to enable rare disease experts to work collaboratively, which will hopefully lead to faster progress in terms of diagnoses, treatments, and development of guidelines and new therapies.

Many of the Centers of Excellence specialize in particular rare disease areas; for example, at UT Southwestern, they are best known for their work in lipid metabolism disorders and cholesterol diseases. Additionally, UT Southwestern can care for rare disease patients across the lifespan as they have rare disease programs for all ages and, for some rare diseases, have standardized programs to transition patients from youth- to adult-centered care.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>235angela-scheuerle,center-of-excellence,national-organization-of-rare,nord,rare-disease,southwestern-medical-centerfalsefullhttps://www.spreaker.com/episode/advances-in-gene-therapy-for-lysosomal-diseases--51809981
At the end of this activity, participants should be able to:
Describe the limitations and unmet needs of the current therapeutic landscape for lysosomal disorders
Review the gene transfer therapies for lysosomal disorders
Describe the best clinical practices to monitor the safety profile of gene therapy
Describe the best practices for gene therapies

Educational Support for this activity was provided by Takeda, Sanofi, and Chiesi.

To obtain CME credit, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/51809981Mon, 07 Nov 2022 11:17:33 +0000CheckRare EditorsThis CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Sonata Jodele, MD, Research Professor of Pediatrics at Cincinnati Children’s Hospital Medical Center,...
At the end of this activity, participants should be able to:
Describe the limitations and unmet needs of the current therapeutic landscape for lysosomal disorders
Review the gene transfer therapies for lysosomal disorders
Describe the best clinical practices to monitor the safety profile of gene therapy
Describe the best practices for gene therapies

Educational Support for this activity was provided by Takeda, Sanofi, and Chiesi.

To obtain CME credit, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>3695cme,fabry,gaucher,gene-therapy,genetic-disease,lysosomal-storage,mps,pompe,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/advances-in-gene-therapy-for-lysosomal-diseases--51762827
At the end of this activity, participants should be able to:
Describe the limitations and unmet needs of the current therapeutic landscape for lysosomal disorders:
- Review the gene transfer therapies for lysosomal disorders
- Describe the best clinical practices to monitor the safety profile of gene therapy
- Describe the best practices for gene therapies

Educational Support for this activity was provided by Takeda, Sanofi, and Chiesi.

To obtain CME credit, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/51762827Wed, 02 Nov 2022 10:55:38 +0000CheckRare EditorsThis CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Sonata Jodele, MD, Research Professor of Pediatrics at Cincinnati Children’s Hospital Medical Center,...
At the end of this activity, participants should be able to:
Describe the limitations and unmet needs of the current therapeutic landscape for lysosomal disorders:
- Review the gene transfer therapies for lysosomal disorders
- Describe the best clinical practices to monitor the safety profile of gene therapy
- Describe the best practices for gene therapies

Educational Support for this activity was provided by Takeda, Sanofi, and Chiesi.

To obtain CME credit, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>3729cme,fabry,gaucher,gene-therapy,lysosomal,lysosomal-storage-diseases,pompe,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/updates-in-medical-management-of-cushing-s-syndrome--51400265
Cushing’s disease is caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor. Optimal patient outcomes require an accurate diagnosis, proper selection of individualized treatment, and good management of the disease and its associated comorbidities.

The program features two experts, Maria Fleseriu, MD, Professor of Medicine and Neurological Surgery at Oregon Health and Science University and Beverly Biller, MD, Professor of Medicine at Harvard Medical School, who were actively involved in the recently published consensus on the diagnosis and management of Cushing’s diseases in Lancet Diabetes Endocrinology.

Supported by an educational grant from Xeris Pharmaceuticals, Inc.
To obtain credit, visit checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/51400265Tue, 27 Sep 2022 22:13:52 +0000CheckRare EditorsThis 30-minute CME program highlights new treatment options that are available for persons with Cushing’s disease. Cushing’s disease is caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor. Optimal patient outcomes require...
Cushing’s disease is caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor. Optimal patient outcomes require an accurate diagnosis, proper selection of individualized treatment, and good management of the disease and its associated comorbidities.

The program features two experts, Maria Fleseriu, MD, Professor of Medicine and Neurological Surgery at Oregon Health and Science University and Beverly Biller, MD, Professor of Medicine at Harvard Medical School, who were actively involved in the recently published consensus on the diagnosis and management of Cushing’s diseases in Lancet Diabetes Endocrinology.

Supported by an educational grant from Xeris Pharmaceuticals, Inc.
To obtain credit, visit checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1925beverly-biller-md,cushings-disease,maria-fleseriu-md,rare-diseasefalsefullhttps://www.spreaker.com/episode/diagnosis-and-comorbidities-in-cushing-s-disease-new-consensus-summary-into-your-practice--51400195Cushing’s disease is caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor. Optimal patient outcomes require an accurate diagnosis, proper selection of individualized treatment, and good management of the disease and its associated comorbidities.

The program features two experts, Beverly Biller, MD, Professor of Medicine at Harvard Medical School and Maria Fleseriu, MD, Professor of Medicine and Neurological Surgery at Oregon Health and Science University, who were actively involved in the recently published consensus on the diagnosis and management of Cushing’s diseases in Lancet Diabetes Endocrinology.

Supported by an educational grant from Xeris Pharmaceuticals, Inc.
To obtain credit, visit checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/51400195Tue, 27 Sep 2022 22:06:19 +0000CheckRare EditorsThis 30-minute CME program highlights best practices to diagnose Cushing’s disease and to manage the comorbidities commonly observed in persons with this rare disorder. Cushing’s disease is caused by an adrenocorticotropic hormone (ACTH)-secreting...Cushing’s disease is caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor. Optimal patient outcomes require an accurate diagnosis, proper selection of individualized treatment, and good management of the disease and its associated comorbidities.

The program features two experts, Beverly Biller, MD, Professor of Medicine at Harvard Medical School and Maria Fleseriu, MD, Professor of Medicine and Neurological Surgery at Oregon Health and Science University, who were actively involved in the recently published consensus on the diagnosis and management of Cushing’s diseases in Lancet Diabetes Endocrinology.

Supported by an educational grant from Xeris Pharmaceuticals, Inc.
To obtain credit, visit checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>2129beverly-biller-md,cme,cushings-disease,maria-fleseriu-md,medical-education,rare-disease,xerisfalsefullhttps://www.spreaker.com/episode/current-and-emerging-erts-srts--51389157Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Neal J Weinreb, MD, FACP, Voluntary Associate Professor of Human Genetics, University of Miami Miller School of Medicine, highlights how enzyme replacement therapies (ERTs) and substrate reduction therapies (SRTs) for lysosomal storage disorders have transformed, and will continue to transform, the treatment landscape for these rare conditions.

At the end of this activity, participants should be able to:
• Describe how ERTs/SRTs have transformed the LSD population
• Describe the new research underway to improve safety and efficacy of ERTs/SRTs
• Describe how ERTs/SRTs are addressing the problem of the blood brain barrier

Educational Support for this activity was provided by Takeda, Sanofi, and Cheisi.

To obtain CME credit, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/51389157Mon, 26 Sep 2022 20:19:13 +0000CheckRare EditorsThis CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Neal J Weinreb, MD, FACP, Voluntary Associate Professor of Human Genetics, University of Miami Miller...Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Neal J Weinreb, MD, FACP, Voluntary Associate Professor of Human Genetics, University of Miami Miller School of Medicine, highlights how enzyme replacement therapies (ERTs) and substrate reduction therapies (SRTs) for lysosomal storage disorders have transformed, and will continue to transform, the treatment landscape for these rare conditions.

At the end of this activity, participants should be able to:
• Describe how ERTs/SRTs have transformed the LSD population
• Describe the new research underway to improve safety and efficacy of ERTs/SRTs
• Describe how ERTs/SRTs are addressing the problem of the blood brain barrier

Educational Support for this activity was provided by Takeda, Sanofi, and Cheisi.

To obtain CME credit, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>3729enzyme-replacement,fabry,gaucher,gore-alpan,lysosomal,lysosomal-storage-disease,mps,pompe,weinrebfalsefullhttps://www.spreaker.com/episode/what-is-dravet-syndrome--51172283
As Dr. Ticho explains, Dravet syndrome is a rare neurological condition that usually appears during the first year of life as frequent febrile seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. Moderate to severe cognitive impairment is also common. Most cases of Dravet syndrome occur due to a mutation of the SCN1A gene. The SCN1A gene codes for the protein NaV1.1. With only one functional SCN1A gene, people with Dravet syndrome produce less of the NaV1.1 protein. NaV1.1 is an important protein for the nerves in the brain to work properly. Low levels of NaV1.1 in the brain can lead to seizures and other symptoms of Dravet syndrome.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/51172283Wed, 07 Sep 2022 11:30:03 +0000CheckRare EditorsBarry S. Ticho, MD, PhD, Chief Medical Officer at Stoke Therapeutics, gives a detailed overview of Dravet syndrome. As Dr. Ticho explains, Dravet syndrome is a rare neurological condition that usually appears during the first year of life as...
As Dr. Ticho explains, Dravet syndrome is a rare neurological condition that usually appears during the first year of life as frequent febrile seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. Moderate to severe cognitive impairment is also common. Most cases of Dravet syndrome occur due to a mutation of the SCN1A gene. The SCN1A gene codes for the protein NaV1.1. With only one functional SCN1A gene, people with Dravet syndrome produce less of the NaV1.1 protein. NaV1.1 is an important protein for the nerves in the brain to work properly. Low levels of NaV1.1 in the brain can lead to seizures and other symptoms of Dravet syndrome.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>342barry-s-ticho,barry-ticho,darry-s-ticho,dravet-syndrome,neurological,rare-disease,stoke-therapeuticsfalsefullhttps://www.spreaker.com/episode/what-is-a-patient-focused-drug-development-pfdd-meeting--51077293
As Mr. Bauer explains, PFDD meetings are designed to engage patients and learn their perspectives on the most significant symptoms of their condition and the impact of the condition on daily life, as well as their current approaches to treatment.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/51077293Tue, 30 Aug 2022 11:00:12 +0000CheckRare EditorsLarry J Bauer, Senior Regulatory Drug Expert from Hyman, Phelps, & McNamara PC, a dedicated food and drug law firm, discusses the history and purposes of patient-focused drug development (PFDD) meetings. As Mr. Bauer explains, PFDD meetings are...
As Mr. Bauer explains, PFDD meetings are designed to engage patients and learn their perspectives on the most significant symptoms of their condition and the impact of the condition on daily life, as well as their current approaches to treatment.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>425fda,food-and-drug-association,galactosemia,larry-j-bauer,nord,patient-focused-drug-developme,pfdd,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/data-from-shine-study-shows-significant-breakthrough-for-patients-with-mantle-cell-lymphoma--50895431
Mantle cell lymphoma is a rare form of non-Hodgkin’s lymphoma in which B-cells become cancerous and form tumors in the lymph nodes that can quickly spread to other regions. It commonly affects people over the age of 65 who typically cannot tolerate intensive chemoimmunotherapy and stem cell transplantation, resulting in poor clinical outcomes.
As Dr. Wang explains, the SHINE study enrolled 523 patients 65 years of age or older with newly diagnosed mantle cell lymphoma. All participants were randomly assigned to receive 560 mg ibrutinib QD or placebo in combination with bendamustine and rituximab for a maximum of six 28-day cycles. Participants with a complete response or partial response continued to receive maintenance therapy with rituximab every second cycle for a maximum of 12 additional doses. Ibrutinib or placebo was administered daily until progressive disease or unacceptable toxicity.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/50895431Fri, 12 Aug 2022 11:12:10 +0000CheckRare EditorsMichael L. Wang, MD, Professor, Department of Lymphoma & Myeloma at the University of Texas MD Anderson Cancer Center, discusses results of the phase 3 SHINE study which evaluated the safety and efficacy of ibrutinib in combination with bendamustine...
Mantle cell lymphoma is a rare form of non-Hodgkin’s lymphoma in which B-cells become cancerous and form tumors in the lymph nodes that can quickly spread to other regions. It commonly affects people over the age of 65 who typically cannot tolerate intensive chemoimmunotherapy and stem cell transplantation, resulting in poor clinical outcomes.
As Dr. Wang explains, the SHINE study enrolled 523 patients 65 years of age or older with newly diagnosed mantle cell lymphoma. All participants were randomly assigned to receive 560 mg ibrutinib QD or placebo in combination with bendamustine and rituximab for a maximum of six 28-day cycles. Participants with a complete response or partial response continued to receive maintenance therapy with rituximab every second cycle for a maximum of 12 additional doses. Ibrutinib or placebo was administered daily until progressive disease or unacceptable toxicity.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>210asco,ibrutinib,mantle-cell-lymphoma,md-anderson-cancer-center,michael-wang-md,oncology,phase-3-shine,shine-study,university-of-texas-md-andersofalsefullhttps://www.spreaker.com/episode/what-is-enpp1-deficiency--50725094
The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase 1 (ENPP1), which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating normal bone mineralization. Individuals who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy (GACI), which is characterized by extensive vascular calcification and neointimal proliferation, resulting in myocardial infarction, stroke, or cardiac or multiorgan failure.

Approximately 45% to 50% of infants with ENPP1 deficiency die within six months of birth. Children and adults with ENPP1 deficiency typically experience rickets and osteomalacia, a condition also known as autosomal-recessive hypophosphatemic rickets type 2 (ARHR2). These patients can also exhibit a range of signs and symptoms that include hearing loss, arterial calcification, and cardiac and/or neurological involvement. There are currently no approved therapies for ENPP1 deficiency. Recently, however, Inozyme announced positive preliminary biomarker, safety, and pharmacokinetic data from the first 3 patients treated in the phase 1 portion of its ongoing phase 1/2 clinical trial of INZ-701 in adult patients with ENPP1 deficiency.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/50725094Wed, 27 Jul 2022 11:50:24 +0000CheckRare EditorsAxel Bolte, MSc, MBA, Co-Founder, President, and Chief Executive Officer, Inozyme Pharmaceuticals, gives an overview of ENPP1 deficiency. The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase 1 (ENPP1),...
The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase 1 (ENPP1), which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating normal bone mineralization. Individuals who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy (GACI), which is characterized by extensive vascular calcification and neointimal proliferation, resulting in myocardial infarction, stroke, or cardiac or multiorgan failure.

Approximately 45% to 50% of infants with ENPP1 deficiency die within six months of birth. Children and adults with ENPP1 deficiency typically experience rickets and osteomalacia, a condition also known as autosomal-recessive hypophosphatemic rickets type 2 (ARHR2). These patients can also exhibit a range of signs and symptoms that include hearing loss, arterial calcification, and cardiac and/or neurological involvement. There are currently no approved therapies for ENPP1 deficiency. Recently, however, Inozyme announced positive preliminary biomarker, safety, and pharmacokinetic data from the first 3 patients treated in the phase 1 portion of its ongoing phase 1/2 clinical trial of INZ-701 in adult patients with ENPP1 deficiency.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>637axel-bolte,ectonucleotide,enppi,enppi-deficiency,gaci,inozyme,phosphodiesterase,pyrophosphatase/falsefullhttps://www.spreaker.com/episode/pnh-real-world-experience--50546034
Supported by an educational grant from Alexion Pharmaceuticals, Inc.

For complete activity information and to obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/50546034Tue, 12 Jul 2022 11:58:02 +0000CheckRare EditorsThis accredited CME activity, led by Satheesh Chonat, MD, Assistant Professor at Emory University School of Medicine and hematologist-oncologist at the Pediatric Hematology Aflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta,...
Supported by an educational grant from Alexion Pharmaceuticals, Inc.

For complete activity information and to obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1037alexion,alexion-pharmaceuticals,cme,emory-university,free-cme,hemolytic-anemia,medical-education,paroxysmal-nocturnal-hemoglobi,pnh,rare-disease,rare-disorder,satheesh-chonat,satheesh-chonat-mdfalsefullhttps://www.spreaker.com/episode/rare-diseases-cost-ten-times-more-than-common-diseases--50467377
As Mr. Chiesi explains, the goals of the study were to qualify the macroeconomic societal costs of rare diseases, and whether this cost is affected by a rare disease having an available treatment.

The results of the study indicate that for the 24 rare diseases selected, the total cost to society was approximately $125 billion with average overall economic burden PPPY of $266,000, which is approximately 10x the cost associated with mass market diseases ($26,000 PPPY). Overall, burden was generally driven by direct and mortality costs. The results also demonstrate that, when a treatment is approved for a rare disease, average overall economic burden PPPY decreases by 21.2% ($42 thousand), even when treatment cost is included.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/50467377Tue, 05 Jul 2022 10:20:30 +0000CheckRare EditorsGiacomo Chiesi, MBA, Head of Chiesi Global Rare Diseases, discusses a white paper titled, "The Burden of Rare Diseases: An Economic Evaluation," based on the results of a study which demonstrate that rare diseases impose substantial economic burden...
As Mr. Chiesi explains, the goals of the study were to qualify the macroeconomic societal costs of rare diseases, and whether this cost is affected by a rare disease having an available treatment.

The results of the study indicate that for the 24 rare diseases selected, the total cost to society was approximately $125 billion with average overall economic burden PPPY of $266,000, which is approximately 10x the cost associated with mass market diseases ($26,000 PPPY). Overall, burden was generally driven by direct and mortality costs. The results also demonstrate that, when a treatment is approved for a rare disease, average overall economic burden PPPY decreases by 21.2% ($42 thousand), even when treatment cost is included.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>972burden-of-rare-diseases-an,chiesi-global-rare-diseases,economic-evaluation-of-rare-di,giacomo-chiesi,rare-disease-costfalsefullhttps://www.spreaker.com/episode/cme-webinar-biomarkers-in-lysosomal-storage-disorders--50326386
To obtain CME/CE credit for this program, go to www.checkrare.com

Support for this educational activity was provided by Takeda, Sanofi and Chiesi.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/50326386Fri, 24 Jun 2022 21:01:33 +0000CheckRare EditorsOzlem Goker-Alpan, MD, Founder and Chief Medical Officer at Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and discusses the latest develops in biomarker research and how biomarkers can improve how patients with lysosomal disorders,...
To obtain CME/CE credit for this program, go to www.checkrare.com

Support for this educational activity was provided by Takeda, Sanofi and Chiesi.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>3671chiesi,gaucher-disease,ldrtc,lysosomal,ozlem-goker-alpen,sanofi,takedafalsefullhttps://www.spreaker.com/episode/hereditary-angioedema-hae-research-highlights-2022-aaaai-annual-meeting--50110409
HAE is a rare genetic disease that results in immunologic attacks that can be life threatening.

Supported by an educational grant from CSL Behring.

For complete activity information and to obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/50110409Tue, 07 Jun 2022 18:44:57 +0000CheckRare EditorsThis accredited CME activity, led by Paula Busse, MD, Associate Professor of Medicine at the Icahn School of Medicine at Mount Sinai, provides a summary of the latest information about hereditary angioedema (HAE) that was presented at the American...
HAE is a rare genetic disease that results in immunologic attacks that can be life threatening.

Supported by an educational grant from CSL Behring.

For complete activity information and to obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1186aaaai,cme,csl-behring,hae,hereditary-angioedema,medical-education,orphan-drug,paula-busse,paula-busse-md,rare-diseasefalsefullhttps://www.spreaker.com/episode/an-interview-with-dr-raymond-wang-about-mucopolysaccharidosis-type-i-mps-i--49997289
MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme, alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs). In moderate to severe forms of the disease, the accumulation of GAGs in the central nervous system leads to hydrocephalus, spinal cord compression, and cognitive impairment. Additional symptoms may include clouded corneas; enlarged liver, spleen, and heart; noisy breathing; recurring upper respiratory tract; ear infections; difficulty swallowing; and periodic bowel problems.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/49997289Mon, 30 May 2022 10:44:43 +0000CheckRare EditorsRaymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children's Hospital of Orange County, provides an extensive overview of mucopolysaccharidosis type I (MPS I), also known as Hurler...
MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme, alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs). In moderate to severe forms of the disease, the accumulation of GAGs in the central nervous system leads to hydrocephalus, spinal cord compression, and cognitive impairment. Additional symptoms may include clouded corneas; enlarged liver, spleen, and heart; noisy breathing; recurring upper respiratory tract; ear infections; difficulty swallowing; and periodic bowel problems.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>2016hurler-syndrome,lysosomal,lysosomal-storage,mps,mucopolysaccharidosis,raymond-wang-md,type-1falsefullhttps://www.spreaker.com/episode/positive-data-from-regenxbio-s-gene-therapy-trials-for-mps-i-and-mps-ii--49811704
MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme, alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs). These GAGs accumulate in the tissues of MPS I patients, resulting in a diverse clinical profile. In moderate to severe forms of the disease, this accumulation in the central nervous system leads to hydrocephalus, spinal cord compression, and cognitive impairment. Additional symptoms may include clouded corneas; enlarged liver, spleen, and heart; noisy breathing; recurring upper respiratory tract; ear infections; difficulty swallowing; and periodic bowel problems.

MPS II is a rare, progressive lysosomal disease caused by deficient activity of iduronate-2-sulfatase, attributable to pathogenic variants of the iduronate-2-sulfatase gene (IDS). This disease has a variable clinical presentation but common signs and symptoms include: developmental decline between 18 and 36 months, followed by progressive loss of skills; coarse facial features; skeletal irregularities; obstructive airway and respiratory complications; joint stiffness; retinal degeneration; and communicating hydrocephalus.

Currently, the main treatment option for both MPS I and MPS II is enzyme replacement therapy (ERT). Unfortunately, intravenous iduronidase (for MPS I) and idursulfase (for MPS II) cannot pass the blood-brain barrier which makes it ineffective in treating neurological symptoms associated with severe forms of these lysosomal storage disorders.

As Dr. Pakola explains, RGX-111 and RGX-121 are both recombinant adeno-associated virus serotype 9 capsids containing the gene that encodes the alpha-L-iduronidase and iduronate-2-sulfatase enzyme, respectively. When administered to the central nervous system both investigational gene therapies may prevent the progression of cognitive deficits that otherwise occurs in MPS I and MPS II patients.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/49811704Mon, 16 May 2022 10:15:15 +0000CheckRare EditorsSteve Pakola, MD, Chief Medical Officer for Regenxbio, discusses data from the ongoing gene therapy trials in children with mucopolysaccharidosis type I (MPS I) and mucopolysaccharidosis type II (MPS II). The data was presented at WORLDSymposium 2022....
MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme, alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs). These GAGs accumulate in the tissues of MPS I patients, resulting in a diverse clinical profile. In moderate to severe forms of the disease, this accumulation in the central nervous system leads to hydrocephalus, spinal cord compression, and cognitive impairment. Additional symptoms may include clouded corneas; enlarged liver, spleen, and heart; noisy breathing; recurring upper respiratory tract; ear infections; difficulty swallowing; and periodic bowel problems.

MPS II is a rare, progressive lysosomal disease caused by deficient activity of iduronate-2-sulfatase, attributable to pathogenic variants of the iduronate-2-sulfatase gene (IDS). This disease has a variable clinical presentation but common signs and symptoms include: developmental decline between 18 and 36 months, followed by progressive loss of skills; coarse facial features; skeletal irregularities; obstructive airway and respiratory complications; joint stiffness; retinal degeneration; and communicating hydrocephalus.

Currently, the main treatment option for both MPS I and MPS II is enzyme replacement therapy (ERT). Unfortunately, intravenous iduronidase (for MPS I) and idursulfase (for MPS II) cannot pass the blood-brain barrier which makes it ineffective in treating neurological symptoms associated with severe forms of these lysosomal storage disorders.

As Dr. Pakola explains, RGX-111 and RGX-121 are both recombinant adeno-associated virus serotype 9 capsids containing the gene that encodes the alpha-L-iduronidase and iduronate-2-sulfatase enzyme, respectively. When administered to the central nervous system both investigational gene therapies may prevent the progression of cognitive deficits that otherwise occurs in MPS I and MPS II patients.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1039gene-therapy,glycosaminoglycans,lysosomal-storage-disorder,mps-1,mps-2,mps-i,mps-ii,mucopolysaccharidosis,regenxbio,rgx-111,rgx-121,steve-pakola,steve-pakola-md,type-2falsefullhttps://www.spreaker.com/episode/what-is-dystrophic-epidermolysis-bullosa--49514722
As Mr. Roman explains, DEB is one of the major forms of epidermolysis bullosa, a group of genetic skin diseases that cause the skin to blister and erode very easily. The signs and symptoms of DEB vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by mutations in the COL7A1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype. Some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease.

Currently, there are no approved targeted treatments for DEB, but Krystal Biotech announced positive topline results in November 2021 from the phase 3 GEM-3 study using redosable gene therapy, beremagene geperpavec (Vyjuvek), in DEB patients.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/49514722Fri, 22 Apr 2022 10:42:16 +0000CheckRare EditorsJuan Roman, Vice President at Krystal Biotech, gives an overview of dystrophic epidermolysis bullosa (DEB). As Mr. Roman explains, DEB is one of the major forms of epidermolysis bullosa, a group of genetic skin diseases that cause the skin to...
As Mr. Roman explains, DEB is one of the major forms of epidermolysis bullosa, a group of genetic skin diseases that cause the skin to blister and erode very easily. The signs and symptoms of DEB vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by mutations in the COL7A1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype. Some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease.

Currently, there are no approved targeted treatments for DEB, but Krystal Biotech announced positive topline results in November 2021 from the phase 3 GEM-3 study using redosable gene therapy, beremagene geperpavec (Vyjuvek), in DEB patients.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>170beremagene-geperpavec,blistering-skin,deb,dystrophic-epidermolysis-bullo,genetic-skin-diseases,juan-roman,krystal-biotech,rare-disease,vyjuvekfalsefullhttps://www.spreaker.com/episode/the-nord-rare-disease-centers-of-excellence--49502228
As Dr. Neilan explains, there were two main goals when establishing a national network of rare disease centers. The first goal was to help rare disease patients find medical centers that have deep and broad expertise and could assist them with their diagnosis or treatment of their disease. The second goal was to enable rare disease experts to work collaboratively, which will hopefully lead to faster progress in terms of diagnoses, treatments, and development of guidelines and new therapies.

The application process for the NORD Rare Disease Centers of Excellence was extensive to ensure that each center, among other things, had extensive expertise. Some additional criteria for the selection of these centers included being actively involved in rare disease research, actively training the “next generation” of rare disease clinicians and researchers, and being able to provide care for all ages and assist with the transition for pediatric to adult care. NORD also evaluated if centers were providing education about rare diseases to the public and reaching out to underserved minorities.

Dr. Neilan hopes that by establishing this network of centers, it will increase the sharing of information between physicians, which will in turn decrease the need for patients to travel across the country to receive proper care for their rare disease.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/49502228Thu, 21 Apr 2022 10:44:09 +0000CheckRare EditorsEdward Neilan, MD, PhD, Chief Scientific and Medical Officer at the National Organization for Rare Disorders (NORD), discusses the organization’s recently established Rare Disease Centers of Excellence. As Dr. Neilan explains, there were two main...
As Dr. Neilan explains, there were two main goals when establishing a national network of rare disease centers. The first goal was to help rare disease patients find medical centers that have deep and broad expertise and could assist them with their diagnosis or treatment of their disease. The second goal was to enable rare disease experts to work collaboratively, which will hopefully lead to faster progress in terms of diagnoses, treatments, and development of guidelines and new therapies.

The application process for the NORD Rare Disease Centers of Excellence was extensive to ensure that each center, among other things, had extensive expertise. Some additional criteria for the selection of these centers included being actively involved in rare disease research, actively training the “next generation” of rare disease clinicians and researchers, and being able to provide care for all ages and assist with the transition for pediatric to adult care. NORD also evaluated if centers were providing education about rare diseases to the public and reaching out to underserved minorities.

Dr. Neilan hopes that by establishing this network of centers, it will increase the sharing of information between physicians, which will in turn decrease the need for patients to travel across the country to receive proper care for their rare disease.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>273centers-of-excellence,edward-neilan-md,national-organization-for-rare,nord,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/data-from-phase-3-gene-therapy-trial-in-hemophilia-b-patients-very-encouraging--49434055
Hemophilia B is a congenital bleeding disorder due to dysfunction or deficiency of coagulation Factor IX (FIX). People with this condition may bleed for longer periods of time after injury or surgery. They are also susceptible to spontaneous bleeding in muscles, joints and organs, which can be extremely painful and, in some cases, life-threatening.

Etranacogene dezaparvovec is an investigational adeno-associated virus five (AAV5)-based gene therapy for people living with hemophilia B.

The final data from the HOPE-B trial were recently announced and demonstrated that etranacogene dezaparvovec produced mean FIX activity of 39.0 IU/dL at six months and 36.9 IU/dL at 18 months post infusion. For context, patients with severe hemophilia B often have less than 1.0 IU/dL and greater than 10.0 IU/dL is thought to be necessary for an absence of joint bleeding.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/49434055Thu, 14 Apr 2022 11:13:43 +0000CheckRare EditorsSteven Pipe, MD, Professor of Pediatrics and Pathology, and Pediatric Medical Director of the Hemophilia and Coagulation Disorders Program at the University of Michigan, discusses the recent announcement of positive long-term results from the phase 3...
Hemophilia B is a congenital bleeding disorder due to dysfunction or deficiency of coagulation Factor IX (FIX). People with this condition may bleed for longer periods of time after injury or surgery. They are also susceptible to spontaneous bleeding in muscles, joints and organs, which can be extremely painful and, in some cases, life-threatening.

Etranacogene dezaparvovec is an investigational adeno-associated virus five (AAV5)-based gene therapy for people living with hemophilia B.

The final data from the HOPE-B trial were recently announced and demonstrated that etranacogene dezaparvovec produced mean FIX activity of 39.0 IU/dL at six months and 36.9 IU/dL at 18 months post infusion. For context, patients with severe hemophilia B often have less than 1.0 IU/dL and greater than 10.0 IU/dL is thought to be necessary for an absence of joint bleeding.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1481coagulation-factor-ix,etranacogene-dezaparvovec,etranadez,gene-therapy,hemophilia,hemophilia-b,hope-b-clinical-trial,rare-bleeding-disorder,rare-disease,steven-pipe-mdfalsefullhttps://www.spreaker.com/episode/what-is-rett-syndrome--49337881
As Dr. Neul explains, ​​Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. Common symptoms include hand-wringing; fits of screaming and inconsolable crying; autistic features; panic-like attacks; bruxism; episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth.

Rett syndrome is most commonly caused by a sporadic mutation in the MECP2 gene on the X chromosome. The majority of cases are not inherited from a parent. Treatment mainly focuses on reducing specific symptoms of the condition as there is currently no approved treatment or cure for Rett syndrome. However, recently, positive top-line results from a phase 3 study (NCT04181723) of investigational trofinetide for Rett syndrome were announced.

For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/49337881Wed, 06 Apr 2022 10:33:24 +0000CheckRare EditorsJeffrey L. Neul, MD, PhD, Professor of Pediatrics, Division of Neurology, Pharmacology, and Special Education at Vanderbilt University Medical Center, gives an overview of Rett syndrome. As Dr. Neul explains, ​​Rett syndrome is a rare progressive...
As Dr. Neul explains, ​​Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. Common symptoms include hand-wringing; fits of screaming and inconsolable crying; autistic features; panic-like attacks; bruxism; episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth.

Rett syndrome is most commonly caused by a sporadic mutation in the MECP2 gene on the X chromosome. The majority of cases are not inherited from a parent. Treatment mainly focuses on reducing specific symptoms of the condition as there is currently no approved treatment or cure for Rett syndrome. However, recently, positive top-line results from a phase 3 study (NCT04181723) of investigational trofinetide for Rett syndrome were announced.

For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>176jeffrey-neul-md,mecp2-gene,nct04181723,neurological-disorder,rare-disease,rare-disorder,rare-progressive-neurodevelopm,rett-syndrome,sporadic-mutation,trofinetide,vanderbilt-universityfalsefullhttps://www.spreaker.com/episode/gene-therapy-rgx-111-to-treat-mucopolysaccharidosis-type-i-mps-i--49279985
MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme, alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs). In moderate to severe forms of the disease, the accumulation of GAGs in the central nervous system leads to glycosaminoglycans, spinal cord compression, and cognitive impairment.

RGX-111 is a recombinant adeno-associated virus serotype 9 capsid containing a human IDUA expression cassette (AAV9.CB7.hIDUA). When administered to the central nervous system (CNS), RGX-111 may provide a permanent CNS source of secreted alpha-L-iduronidase, potentially preventing the progression of cognitive deficits that otherwise occurs in MPS I patients. In this phase 1/2, first-in-human, multicenter, open-label, dose escalation trial, participants CNS involvement or severe MPS I, four months of age or older, received one image-guided RGX-111 injection to the CNS with 104 week follow-up for safety, tolerability, and efficacy. Assessments include cerebrospinal fluid, plasma, and urine biomarkers; cognitive, language, and motor neurodevelopmental scales; and imaging. Two subjects have been dosed at Dose 1 (1.0 x 1010 genome copies/g brain mass) and 3 subjects have currently been dosed at Dose 2 (5.0 x 1010 genome copies/g brain mass). Enrollment for Dose 2 continues.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/49279985Fri, 01 Apr 2022 11:13:24 +0000CheckRare EditorsRaymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children's Hospital of Orange County, discusses RGX-111, an investigational gene therapy for mucopolysaccharidosis type I (MPS I). Data...
MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme, alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs). In moderate to severe forms of the disease, the accumulation of GAGs in the central nervous system leads to glycosaminoglycans, spinal cord compression, and cognitive impairment.

RGX-111 is a recombinant adeno-associated virus serotype 9 capsid containing a human IDUA expression cassette (AAV9.CB7.hIDUA). When administered to the central nervous system (CNS), RGX-111 may provide a permanent CNS source of secreted alpha-L-iduronidase, potentially preventing the progression of cognitive deficits that otherwise occurs in MPS I patients. In this phase 1/2, first-in-human, multicenter, open-label, dose escalation trial, participants CNS involvement or severe MPS I, four months of age or older, received one image-guided RGX-111 injection to the CNS with 104 week follow-up for safety, tolerability, and efficacy. Assessments include cerebrospinal fluid, plasma, and urine biomarkers; cognitive, language, and motor neurodevelopmental scales; and imaging. Two subjects have been dosed at Dose 1 (1.0 x 1010 genome copies/g brain mass) and 3 subjects have currently been dosed at Dose 2 (5.0 x 1010 genome copies/g brain mass). Enrollment for Dose 2 continues.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>555gags,gene-therapy,genetic-disorder,glucosaminoglycans,glycosaminoglycans,inherited-lysosomal-storage,lysosomal-storage,mps-1,mucopolysaccharidosis,mucopolysaccharidosis-type-i,rare-disease,rare-genetic-disease,raymond-wang-md,rgx-111,spinal-cord-compressionfalsefullhttps://www.spreaker.com/episode/treatment-options-for-myasthenia-gravis--49166042
Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eyes, eyelids, facial expressions, chewing, talking, and swallowing. The condition is usually due to the presence of antibodies against acetylcholine receptors in the neuromuscular junction.

As Dr. Howard explains, due to the variety of ways this rare disease can present, treatment of myasthenia gravis is individualized to each patient based on their specific symptoms and unique comorbidities. In addition, the financial situation of each patient is taken into account.
Acetylcholinesterase inhibitors are often used as bridge therapies. Corticosteroids are also common bridge therapies in younger patients, while steroid sparing agents are more common in older patients or in patients with contraindications to steroids. In patients under the age of 60 with generalized disease and who are anti-acetylcholine receptor (AChR) antibody positive, the removal of the thymus gland is common.

Dr. Howard goes on to discuss approved treatments for myasthenia gravis. In 2017, eculizumab, a complement inhibitor, was approved by the U.S. Food and Drug Administration (FDA) for the treatment of generalized myasthenia gravis in adult patients who are anti-acetylcholine receptor (AChR) antibody positive.

More recently, in December 2021, the FDA approved efgartigimod alfa, an FcRn inhibitor, for the treatment of this same patient population. This approval was based on positive results from the global phase 3 ADAPT trial, which were published in the July 2021 issue of The Lancet Neurology. While Dr. Howard stresses the need for individualized treatment for all myasthenia gravis patients, he is optimistic about the future of FcRn inhibitors in the treatment of myasthenia gravis.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/49166042Wed, 23 Mar 2022 12:06:37 +0000CheckRare EditorsJames Howard Jr., MD, Distinguished Professor of Neuromuscular Disease and Professor of Neurology and Medicine at UNC School of Medicine, reviews the treatment landscape for myasthenia gravis. Myasthenia gravis is a chronic autoimmune...
Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eyes, eyelids, facial expressions, chewing, talking, and swallowing. The condition is usually due to the presence of antibodies against acetylcholine receptors in the neuromuscular junction.

As Dr. Howard explains, due to the variety of ways this rare disease can present, treatment of myasthenia gravis is individualized to each patient based on their specific symptoms and unique comorbidities. In addition, the financial situation of each patient is taken into account.
Acetylcholinesterase inhibitors are often used as bridge therapies. Corticosteroids are also common bridge therapies in younger patients, while steroid sparing agents are more common in older patients or in patients with contraindications to steroids. In patients under the age of 60 with generalized disease and who are anti-acetylcholine receptor (AChR) antibody positive, the removal of the thymus gland is common.

Dr. Howard goes on to discuss approved treatments for myasthenia gravis. In 2017, eculizumab, a complement inhibitor, was approved by the U.S. Food and Drug Administration (FDA) for the treatment of generalized myasthenia gravis in adult patients who are anti-acetylcholine receptor (AChR) antibody positive.

More recently, in December 2021, the FDA approved efgartigimod alfa, an FcRn inhibitor, for the treatment of this same patient population. This approval was based on positive results from the global phase 3 ADAPT trial, which were published in the July 2021 issue of The Lancet Neurology. While Dr. Howard stresses the need for individualized treatment for all myasthenia gravis patients, he is optimistic about the future of FcRn inhibitors in the treatment of myasthenia gravis.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>804chronic-autoimmune-disease,james-howard,james-howard-jr-md,myasthenia-gravis,neuromuscular-disease,rare-disease,rare-disorderfalsefullhttps://www.spreaker.com/episode/galactosemia-roundtable-discussion-overview--49112651
This roundtable discussion features perspectives from advocates, experts, and families living with Type 1 galactosemia. Galactosemia is a rare genetic disease that can be life-threatening for newborns and cause severe lifelong complications starting as early as the first year of life. Galactosemia affects the body’s ability to make the enzyme that breaks down galactose, a simple sugar produced endogenously by the body that is also found in dairy and other foods, including breast milk. The genetic mutations driving galactosemia cause a toxic buildup of galactose and other metabolites (including Gal-1p and galactitol), which constitutes a medical emergency in newborns and can contribute to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women.

No treatments are currently approved for galactosemia. The current standard of care—a galactose-restricted diet—is insufficient because the body endogenously produces galactose, resulting in the chronic complications mentioned above.

Hosted by the Galactosemia Foundation and Jaguar Gene Therapy, participants included:
- Nicole Casale, President, The Galactosemia Foundation
- Brittany Cudzilo, Vice President, The Galactosemia Foundation
- Gerald T. Berry, MD, Director, Metabolism Program Boston Children’s Hospital and Professor, Harvard Medical School
- Judith L. Fridovich-Keil, PhD, Professor, Emory University School of Medicine
Family Stories by Allison and Brooks Woodfin, Megan and Ava Lilia, and David and DJ Trainor
- May Tobar, Director Patient Advocacy, Jaguar Gene Therapy
- Joe Nolan, CEO, Jaguar Gene Therapy

Nicole Casale and Brittany Cudzilo of the Galactosemia Foundation described the Foundation and its goals, and their experiences with their own children affected by classic galactosemia.
Galactosemia experts Gerard Berry, MD, of Boston Children’s Hospital and Judith Fridovich-Keil, PhD, of Emory University School of Medicine, provided an overview of Type 1 Galactosemia and described the natural history of the disorder and its unmet needs.
The Director of Patient Advocacy at Jaguar Gene Therapy, May Tobar, shared the importance of patient advocacy and why it is important to work closely with the patient community.
Parents of two young patients with Type 1 galactosemia told stories of their children’s diagnoses, and their own experience with classic galactosemia. A 28-year-old patient with classic galactosemia offered his thoughts on living with the disorder and how he meets those challenges every day. His father provided additional perspectives.

The CEO of Jaguar Gene Therapeutics, Joe Nolan, closed the session by thanking all of the participants, including the Galactosemia Foundation, the experts, and the families who shared their personal stories. He also shared a little bit about Jaguar Gene Therapy and the treatment in development for Type 1 galactosemia, JAG101.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/49112651Fri, 18 Mar 2022 23:40:47 +0000CheckRare EditorsA group of leading experts in metabolic disorders, advocates, and family representatives attended a virtual conference to discuss Type 1 galactosemia. This roundtable discussion features perspectives from advocates, experts, and families living...
This roundtable discussion features perspectives from advocates, experts, and families living with Type 1 galactosemia. Galactosemia is a rare genetic disease that can be life-threatening for newborns and cause severe lifelong complications starting as early as the first year of life. Galactosemia affects the body’s ability to make the enzyme that breaks down galactose, a simple sugar produced endogenously by the body that is also found in dairy and other foods, including breast milk. The genetic mutations driving galactosemia cause a toxic buildup of galactose and other metabolites (including Gal-1p and galactitol), which constitutes a medical emergency in newborns and can contribute to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women.

No treatments are currently approved for galactosemia. The current standard of care—a galactose-restricted diet—is insufficient because the body endogenously produces galactose, resulting in the chronic complications mentioned above.

Hosted by the Galactosemia Foundation and Jaguar Gene Therapy, participants included:
- Nicole Casale, President, The Galactosemia Foundation
- Brittany Cudzilo, Vice President, The Galactosemia Foundation
- Gerald T. Berry, MD, Director, Metabolism Program Boston Children’s Hospital and Professor, Harvard Medical School
- Judith L. Fridovich-Keil, PhD, Professor, Emory University School of Medicine
Family Stories by Allison and Brooks Woodfin, Megan and Ava Lilia, and David and DJ Trainor
- May Tobar, Director Patient Advocacy, Jaguar Gene Therapy
- Joe Nolan, CEO, Jaguar Gene Therapy

Nicole Casale and Brittany Cudzilo of the Galactosemia Foundation described the Foundation and its goals, and their experiences with their own children affected by classic galactosemia.
Galactosemia experts Gerard Berry, MD, of Boston Children’s Hospital and Judith Fridovich-Keil, PhD, of Emory University School of Medicine, provided an overview of Type 1 Galactosemia and described the natural history of the disorder and its unmet needs.
The Director of Patient Advocacy at Jaguar Gene Therapy, May Tobar, shared the importance of patient advocacy and why it is important to work closely with the patient community.
Parents of two young patients with Type 1 galactosemia told stories of their children’s diagnoses, and their own experience with classic galactosemia. A 28-year-old patient with classic galactosemia offered his thoughts on living with the disorder and how he meets those challenges every day. His father provided additional perspectives.

The CEO of Jaguar Gene Therapeutics, Joe Nolan, closed the session by thanking all of the participants, including the Galactosemia Foundation, the experts, and the families who shared their personal stories. He also shared a little bit about Jaguar Gene Therapy and the treatment in development for Type 1 galactosemia, JAG101.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>3093brittany-cudzilo,classic-galactosemia,fridovich-keil,galactosemia,galactosemia-foundation,galactosemia-roundtable,gerald-berry-md,jag101,jaguar-gene-therapy,joe-nolan,judith-fridovich-keil,may-tobar,nicole-casale,rare-disease,type-1-galactosemiafalsefullhttps://www.spreaker.com/episode/mps-ii-research-highlights-worldsymposium-2022--49112580
MPS II; Hunter syndrome is a rare, progressive lysosomal disease caused by deficient activity of iduronate-2-sulfatase, attributable to pathogenic variants of the iduronate-2-sulfatase gene (IDS). Course facial features and skeletal irregularities are the dominant symptoms of the periphery but of great concern is the central symptoms (cognitive decline, seizures) that occur in the more severe cases. Current therapies options include enzyme replace therapy but newer treatment options are in development, including treatments that may address the central symptoms. Supported by an educational grant from Takeda Pharmaceuticals U.S.A. Inc.

For complete activity information and to obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/49112580Fri, 18 Mar 2022 23:32:31 +0000CheckRare EditorsThis accredited CME activity, led by Barbara Burton, MD, Professor of Pediatrics at Northwestern University Feinberg School of Medicine highlights the latest research about Mucopolysaccharidosis type II (MPS II; Hunter syndrome) presented at...
MPS II; Hunter syndrome is a rare, progressive lysosomal disease caused by deficient activity of iduronate-2-sulfatase, attributable to pathogenic variants of the iduronate-2-sulfatase gene (IDS). Course facial features and skeletal irregularities are the dominant symptoms of the periphery but of great concern is the central symptoms (cognitive decline, seizures) that occur in the more severe cases. Current therapies options include enzyme replace therapy but newer treatment options are in development, including treatments that may address the central symptoms. Supported by an educational grant from Takeda Pharmaceuticals U.S.A. Inc.

For complete activity information and to obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1298accredited-cme,barbara-burton-md,checkrare,hunter-syndrome,lysosomal,lysosomal-storage-disease,mps-2,mps-ii,rare-disease,rare-disorder,rare-genetic-disease,rare-progressive-lysosomal-dis,takeda,takeda-pharma,worldsymposiumfalsefullhttps://www.spreaker.com/episode/gaucher-disease-research-highlights-worldsymposium-2022--49112556
Gaucher disease is a genetic lysosomal storage disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen. Current therapies options include enzyme replace therapy or substrate reduction therapy but newer treatment options are in development. Furthermore, there is a genetic link between Gaucher disease and Parkinson’s disease that is currently being investigated.

Supported by an educational grant from Takeda Pharmaceuticals U.S.A. Inc.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/49112556Fri, 18 Mar 2022 23:25:42 +0000CheckRare EditorsThis accredited CME activity, led by Gregory Grabowski, MD, Professor Emeritus at University of Cincinnati College of Medicine highlights the latest research about Gaucher disease presented at WORLDSymposium 2022 provides expert analysis of its...
Gaucher disease is a genetic lysosomal storage disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen. Current therapies options include enzyme replace therapy or substrate reduction therapy but newer treatment options are in development. Furthermore, there is a genetic link between Gaucher disease and Parkinson’s disease that is currently being investigated.

Supported by an educational grant from Takeda Pharmaceuticals U.S.A. Inc.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1224accredited-cme,cme,gaucher-disease,genetic-rare-disease,glucocerebroside,gregory-grabowski-md,liver,lysosomal-storage-disorder,spleen,takeda,takeda-pharmaceuticals,worldsymposiumfalsefullhttps://www.spreaker.com/episode/aadc-deficiency-panel-discussion-overview--49059349
AADC deficiency is characterized by a defect in the dopa decarboxylase or DDC gene; this dysfunction leads to reduced production of the critical neurotransmitters dopamine, norepinephrine, epinephrine, and melatonin. As a result, patients with AADC deficiency can suffer deficits in vital motor function.

The symptoms of this very rare genetic disorder usually appear before children reach one year of age. Patients with severe symptoms rarely survive beyond age 10. Although patients with moderate symptoms can live into adulthood, those afflicted with AADC deficiency often experience developmental disability and can require lifelong care. The participants included:

Philip L. Pearl, MD
Director, Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital
William G. Lennox Chair and Professor of Neurology, Harvard Medical School
Boston, MA

Warren A. Marks, MD
Medical Director, Movement Disorders
Cook Children’s Jane and John Justin Neurosciences Center
Fort Worth, TX

Paul Wuh-Liang Hwu, MD, PhD
Professor, Department of Pediatrics and Medical Genetics
National Taiwan University Hospital
Tapei, Taiwan

Irina A. Anselm, MD
Director of the Mitochondrial Program and Co-Director of the Neurometabolic Program, Boston Children’s Hospital
Assistant Professor of Neurology, Harvard Medical School
Boston, MA

Jennifer O’Malley, MD, PhD
Clinical Assistant Professor, Neurology & Neurological Sciences, Stanford Medicine
Pediatric Neurologist, Stanford Children’s Health
Stanford, CA

Moderated by Dr. Pearl, the roundtable participants described the first recognized case of AADC deficiency, and the fact that the prevalence and incidence of the condition is not yet clear. One problem is that the presentation of infants with AADC deficiency is not very specific, and a large number of patients are probably not yet diagnosed, said Dr. O’Malley. Unexplained hypotonia is a useful sign, she explained, which clinicians can use to go down the path to diagnosis. Dr. Marks commented that when children present with movement disorders at his center, he has a very low threshold to begin genetic testing for AADC deficiency, which will rapidly eliminate or confirm the diagnosis. Dr. Hwu emphasized that clinical recognition is the first step: Once you make one diagnosis, it isn’t too difficult to identify the second patient.

Symptomatic treatment can be useful, particularly in patients with milder forms of AADC deficiency, said Dr. Anselm. For example, similar to Parkinsonism, dopamine agonists can have positive results, but dyskinesias are problematic.

Gene therapy holds promise, according to Dr. Hwu, but he cautioned that even if successful, a good deal of movement training and patience will be required to gain movement control.

Drs. O’Malley and Anselm believe that collaboration and education among the different disciplines (e.g., child neurologists and physiatrists) is key to improving recognition of AADC deficiency and gaining early treatment.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/49059349Mon, 14 Mar 2022 17:34:03 +0000CheckRare EditorsA group of leading experts in pediatric neurology and movement disorders attended a virtual roundtable to discuss diagnostic, symptomatic, and research aspects of aromatic L-amino acid decarboxylase (AADC) deficiency. AADC deficiency is...
AADC deficiency is characterized by a defect in the dopa decarboxylase or DDC gene; this dysfunction leads to reduced production of the critical neurotransmitters dopamine, norepinephrine, epinephrine, and melatonin. As a result, patients with AADC deficiency can suffer deficits in vital motor function.

The symptoms of this very rare genetic disorder usually appear before children reach one year of age. Patients with severe symptoms rarely survive beyond age 10. Although patients with moderate symptoms can live into adulthood, those afflicted with AADC deficiency often experience developmental disability and can require lifelong care. The participants included:

Philip L. Pearl, MD
Director, Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital
William G. Lennox Chair and Professor of Neurology, Harvard Medical School
Boston, MA

Warren A. Marks, MD
Medical Director, Movement Disorders
Cook Children’s Jane and John Justin Neurosciences Center
Fort Worth, TX

Paul Wuh-Liang Hwu, MD, PhD
Professor, Department of Pediatrics and Medical Genetics
National Taiwan University Hospital
Tapei, Taiwan

Irina A. Anselm, MD
Director of the Mitochondrial Program and Co-Director of the Neurometabolic Program, Boston Children’s Hospital
Assistant Professor of Neurology, Harvard Medical School
Boston, MA

Jennifer O’Malley, MD, PhD
Clinical Assistant Professor, Neurology & Neurological Sciences, Stanford Medicine
Pediatric Neurologist, Stanford Children’s Health
Stanford, CA

Moderated by Dr. Pearl, the roundtable participants described the first recognized case of AADC deficiency, and the fact that the prevalence and incidence of the condition is not yet clear. One problem is that the presentation of infants with AADC deficiency is not very specific, and a large number of patients are probably not yet diagnosed, said Dr. O’Malley. Unexplained hypotonia is a useful sign, she explained, which clinicians can use to go down the path to diagnosis. Dr. Marks commented that when children present with movement disorders at his center, he has a very low threshold to begin genetic testing for AADC deficiency, which will rapidly eliminate or confirm the diagnosis. Dr. Hwu emphasized that clinical recognition is the first step: Once you make one diagnosis, it isn’t too difficult to identify the second patient.

Symptomatic treatment can be useful, particularly in patients with milder forms of AADC deficiency, said Dr. Anselm. For example, similar to Parkinsonism, dopamine agonists can have positive results, but dyskinesias are problematic.

Gene therapy holds promise, according to Dr. Hwu, but he cautioned that even if successful, a good deal of movement training and patience will be required to gain movement control.

Drs. O’Malley and Anselm believe that collaboration and education among the different disciplines (e.g., child neurologists and physiatrists) is key to improving recognition of AADC deficiency and gaining early treatment.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights...]]>3240aadc,aadc-deficiency,and,aromatic-l-amino-acid-decarbox,cerebral-palsy,ddc-gene,dopamine,epinephrine,irina-a-anselm-md,jennifer-o'malley,jennifer-o'malley-md,lira-anselm,melatonin,norepinephrine,paul-wuh-liang-hwu-md,philip-l-pearl,rare-disease,rare-disorder,rare-genetic-disease,warren-a-marks-mdfalsefullhttps://www.spreaker.com/episode/paroxysmal-nocturnal-hemoglobinuria-pnh-highlights-from-ash-2021--48993427
PNH is a rare, acquired blood disease characterized by hemolytic anemia, bone marrow failure, thrombosis, and fatigue.

Supported by an educational grant from Apellis.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48993427Tue, 08 Mar 2022 15:17:28 +0000CheckRare EditorsThis accredited CME activity, led by Carlos De Castro, MD, Professor of Medicine, Duke Hematologic Malignancies Clinic, highlights the latest information about paroxysmal nocturnal hemoglobinuria (PNH) presented at ASH 2021 and provides expert...
PNH is a rare, acquired blood disease characterized by hemolytic anemia, bone marrow failure, thrombosis, and fatigue.

Supported by an educational grant from Apellis.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>837apellis,ash,ash-2021,cme,continuting-medical-education,duke,duke-hematologic-malignancies,hemoglobinuria,nocturnal,paroxysmal,paroxysmal-nocturnal-hemoglobi,pnhfalsefullhttps://www.spreaker.com/episode/subasumstat-rituximab-shown-to-be-tolerable-in-subsets-of-non-hodgkin-lymphoma-patients--48990283
Subasumstat is an investigational, first-in-class small-molecule inhibitor of SUMOylation, which mediates cell cycle progression. In preclinical trials, subasumstat was shown to add synergistic benefit when combined with rituximab in non-Hodgkin lymphoma models.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48990283Tue, 08 Mar 2022 11:19:52 +0000CheckRare EditorsKaruppiah Kannan, Senior Director - Global Program Leader at Takeda Pharmaceuticals, discusses early results of a phase 1/2 study evaluating subasumstat (TAK-981) in combination with rituximab in multiple subsets of CD20-positive relapsed/refractory...
Subasumstat is an investigational, first-in-class small-molecule inhibitor of SUMOylation, which mediates cell cycle progression. In preclinical trials, subasumstat was shown to add synergistic benefit when combined with rituximab in non-Hodgkin lymphoma models.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>488cd20-positive,dlbcl,follicular-lymphoma,karuppiah,karuppiah-kannan,lymphoma,mantle-cell-lymphoma,marginal-zone-lymphoma,non-hodgkin-lymphoma,rituximab,subasumstat,sumoylation,tak-981,takeda,takeda-pharmaceuticalsfalsefullhttps://www.spreaker.com/episode/dr-jerry-vockley-discusses-latest-phase-2-data-assessing-synb1618-to-treat-phenylketonuria-pku--48896037
PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body, which can cause significant organ damage, especially in the central nervous system. If left untreated, PKU patients can develop chronic intellectual, neurodevelopmental, and psychiatric disabilities, as well as seizures and heart problems. Lifelong restriction of phenylalanine intake through the diet is needed to prevent buildup of phenylalanine in the body. However, compliance is an issue with this type of diet.

Interim data from the phase 2 SynPheny-1 clinical trial was recently presented at the International Congress of Inborn Errors of Metabolism (ICIEM) Meeting. These data show that treatment with SYNB1618, an investigational oral drug, resulted in significant reductions in plasma phenylalanine levels in patients with PKU.

In an interim analysis of eight patients, treatment with SYNB1618 was associated with a 40% reduction in D5-phenylalanine absorption after a meal challenge. Treatment with SYNB1618 was also associated with a 20% reduction in mean fasting plasma phenylalanine across all subjects.

According to Dr. Vockley, because patients tend to “behave themselves” when they know they will have their phenylalanine levels measured by a professional, patients in the study may have had lower-than-average plasma phenylalanine at baseline. Ultimately, this means that the 20% reduction seen in the interim analysis may be a smaller reduction than what would be seen in real-world settings and that treatment with SYNB1618 may actually lead to an even greater reduction in plasma phenylalanine. Finally, in the interim analysis, treatment with SYNB1618 was associated with >250 µM mean reduction in fasting plasma phenylalanine among responder subjects. Treatment with SYNB1618 was also generally well tolerated, with no serious adverse events and a tolerability profile consistent with results from previous Phase 1 studies.

To learn more about PKU and other rare metabolic disorders, visit checkrare.com/diseases/metabolic-disorders/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48896037Mon, 28 Feb 2022 12:04:05 +0000CheckRare EditorsJerry Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, gives an update on the phase 2 trial testing SYNB1618 to treat phenylketonuria (PKU). PKU is a rare genetic metabolic disorder that results...
PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body, which can cause significant organ damage, especially in the central nervous system. If left untreated, PKU patients can develop chronic intellectual, neurodevelopmental, and psychiatric disabilities, as well as seizures and heart problems. Lifelong restriction of phenylalanine intake through the diet is needed to prevent buildup of phenylalanine in the body. However, compliance is an issue with this type of diet.

Interim data from the phase 2 SynPheny-1 clinical trial was recently presented at the International Congress of Inborn Errors of Metabolism (ICIEM) Meeting. These data show that treatment with SYNB1618, an investigational oral drug, resulted in significant reductions in plasma phenylalanine levels in patients with PKU.

In an interim analysis of eight patients, treatment with SYNB1618 was associated with a 40% reduction in D5-phenylalanine absorption after a meal challenge. Treatment with SYNB1618 was also associated with a 20% reduction in mean fasting plasma phenylalanine across all subjects.

According to Dr. Vockley, because patients tend to “behave themselves” when they know they will have their phenylalanine levels measured by a professional, patients in the study may have had lower-than-average plasma phenylalanine at baseline. Ultimately, this means that the 20% reduction seen in the interim analysis may be a smaller reduction than what would be seen in real-world settings and that treatment with SYNB1618 may actually lead to an even greater reduction in plasma phenylalanine. Finally, in the interim analysis, treatment with SYNB1618 was associated with >250 µM mean reduction in fasting plasma phenylalanine among responder subjects. Treatment with SYNB1618 was also generally well tolerated, with no serious adverse events and a tolerability profile consistent with results from previous Phase 1 studies.

To learn more about PKU and other rare metabolic disorders, visit checkrare.com/diseases/metabolic-disorders/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>476genetics,hydroxylase,jerry-vockley-md,metabolic-disorder,phenuyketonuria,pku,rare-disease,rare-genetic,synb1618falsefullhttps://www.spreaker.com/episode/newborn-screening-hemoglobinopathies-and-newer-disorders-on-the-rusp--48833475
Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48833475Tue, 22 Feb 2022 18:49:08 +0000CheckRare EditorsThis accredited CME activity, led by David Kronn, MD, Associate Professor of Pathology and Pediatrics at New York Medical College, is the fourth module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to...
Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>865bluebird-bio,david-kronn-md,dr-kronn,hemoglobinopathies,newborn-screening,recommended-uniform-screening-,rusp,ultragenyxfalsefullhttps://www.spreaker.com/episode/newborn-screening-metabolic-conditions--48833445

Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48833445Tue, 22 Feb 2022 18:42:27 +0000CheckRare EditorsThis accredited CME activity, led by Jerry Vockley, MD, PhD, Chief of Genetic and Genomic Medicine at the University of Pittsburgh, is the third module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to...

Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1064dr-vockley,jerry-vockley-md,newborn-screening,recommended-uniform-screening-,ruspfalsefullhttps://www.spreaker.com/episode/newborn-screening-talking-to-parents--48833358
Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48833358Tue, 22 Feb 2022 18:35:28 +0000CheckRare EditorsThis accredited CME activity, led by David Kronn, MD, Associate Professor of Pathology and Pediatrics at New York Medical College, is the second module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to...
Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>930bluebird-bio,cme-activity,david-kronn-md,nbs,newborn-screening,new-work-medical-college,ultragenyxfalsefullhttps://www.spreaker.com/episode/newborn-screening-from-rusp-to-reality--48833223
Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48833223Tue, 22 Feb 2022 18:25:17 +0000CheckRare EditorsThis accredited CME activity, led by Jerry Vockley, MD, PhD, Chief of Genetic and Genomic Medicine at the University of Pittsburgh, is the first module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to...
Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1236bluebird-bio,cme-activity,jerry-vockley-md,newborn-screening,rusp,ultragenxfalsefullhttps://www.spreaker.com/episode/pyruvate-kinase-pk-deficiency-highlights-from-ash-2021--48788769
PK deficiency is a rare blood disease due to mutations in the PKLR gene that leads to decreased PK levels. Current therapies options are supportive (transfusions, iron chelation, splenectomy) but treatments are in development to better address the pathophysiology of this rare condition.

Supported by an educational grant from Agios Pharmaceuticals.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48788769Fri, 18 Feb 2022 20:18:06 +0000CheckRare EditorsThis accredited CME activity, led by Rachael Grace, MD, Associate Professor, Harvard Medical School, highlights the latest research about pyruvate kinase (PK) deficiency presented at ASH 2021 and provides expert analysis of its clinical relevance for...
PK deficiency is a rare blood disease due to mutations in the PKLR gene that leads to decreased PK levels. Current therapies options are supportive (transfusions, iron chelation, splenectomy) but treatments are in development to better address the pathophysiology of this rare condition.

Supported by an educational grant from Agios Pharmaceuticals.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>803agios-pharma,orphan-drug,pk-deficiency,pyruvate-kinase-(pk)-deficienc,rachael-grace-md,rare-diseassefalsefullhttps://www.spreaker.com/episode/treatment-landscape-for-relapsed-and-refractory-multiple-myeloma--48768477
Multiple myeloma is a rare blood cancer associated with uncontrolled growth of plasma cells. Abnormal plasma cells – also known as myeloma cells – interfere with the production of healthy blood cells in the bone marrow. Myeloma cells also produce inactive clones of abnormal antibodies that may negatively affect the bones and kidneys. Symptoms of multiple myeloma may include: bone pain (particularly in the chest and spine), frequent infections, weakness or numbness in the legs, fatigue, confusion, excessive thirst, and constipation. While the disease is treatable, relapses are common and some patients are refractory to first line therapy.

As Dr. Zonder explains, the treatment landscape for multiple myeloma is quickly developing and relatively promising compared to other cancer landscapes. However, these patients are still susceptible to relapse or becoming refractory to treatment. As such, there is a growing need for late line therapies for this patient population. CAR T-cell therapies have been investigated for relapsed or refractory multiple myeloma for a number of years. In March 2021, idecabtagene vicleucel (a CAR T-cell therapy) was approved by the U.S Food and Drug Administration for the treatment of patients with relapsed/refractory multiple myeloma who have received at least four prior lines of therapy. There are a few toxicity concerns associated with CAR T-cell therapies, the most notable of which is cytokine release syndrome, as well as accessibility issues. Bispecific antibody therapies are also being developed for multiple myeloma and have the potential to be a safe and effective alternative.

Dr. Zonder recently discussed data from the first-in-human study of REGN5458, a BCMA x CD3 bispecific antibody that is currently being investigated as a monotherapy for relapsed/refractory multiple myeloma patients (NCT03761108). Data from the phase 1 portion of this study were recently presented at The American Society of Hematology Meeting & Exposition (ASH 2021).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48768477Thu, 17 Feb 2022 11:21:30 +0000CheckRare EditorsJeffrey A. Zonder, MD, Hematologist-Oncologist from the Barbara Ann Karmanos Cancer Institute in Detroit, Michigan, describes the treatment landscape for patients with relapsed or refractory multiple myeloma. Multiple myeloma is a rare blood cancer...
Multiple myeloma is a rare blood cancer associated with uncontrolled growth of plasma cells. Abnormal plasma cells – also known as myeloma cells – interfere with the production of healthy blood cells in the bone marrow. Myeloma cells also produce inactive clones of abnormal antibodies that may negatively affect the bones and kidneys. Symptoms of multiple myeloma may include: bone pain (particularly in the chest and spine), frequent infections, weakness or numbness in the legs, fatigue, confusion, excessive thirst, and constipation. While the disease is treatable, relapses are common and some patients are refractory to first line therapy.

As Dr. Zonder explains, the treatment landscape for multiple myeloma is quickly developing and relatively promising compared to other cancer landscapes. However, these patients are still susceptible to relapse or becoming refractory to treatment. As such, there is a growing need for late line therapies for this patient population. CAR T-cell therapies have been investigated for relapsed or refractory multiple myeloma for a number of years. In March 2021, idecabtagene vicleucel (a CAR T-cell therapy) was approved by the U.S Food and Drug Administration for the treatment of patients with relapsed/refractory multiple myeloma who have received at least four prior lines of therapy. There are a few toxicity concerns associated with CAR T-cell therapies, the most notable of which is cytokine release syndrome, as well as accessibility issues. Bispecific antibody therapies are also being developed for multiple myeloma and have the potential to be a safe and effective alternative.

Dr. Zonder recently discussed data from the first-in-human study of REGN5458, a BCMA x CD3 bispecific antibody that is currently being investigated as a monotherapy for relapsed/refractory multiple myeloma patients (NCT03761108). Data from the phase 1 portion of this study were recently presented at The American Society of Hematology Meeting & Exposition (ASH 2021).

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>266a.,and,jeffrey,md,multiple,multiple-myeloma,myeloma,refractory,relapsed,relapsed-and-refractory,treatment-landscape,zonderfalsefullhttps://www.spreaker.com/episode/teclistamab-monotherapy-for-relapsed-refractory-multiple-myeloma-patients--48611749
Multiple myeloma is a rare blood cancer. While the disease is treatable, relapses are common and some patients are refractory to first line treatment.

As Dr. Moreau explains, MajesTEC-1 is a phase 1/2 study testing teclistamab in relapsed/refractory multiple myeloma. Teclistamab is a T-cell redirecting, bispecific IgG4 antibody that targets both B-cell maturation antigen (BCMA) and CD3 receptors to induce T-cell mediated cytotoxicity of BCMA-expressing myeloma cells. In this study, two cohorts were evaluated, one cohort given teclistamab weekly and one biweekly. Updated data on both of these cohorts was presented at the ASH 2021 meeting.

Response rates from both cohorts were encouraging with up to 75% of patients responding to treatment with teclistamab. As of the clinical cutoff, no new safety signals were identified in the phase 2 study. The most common nonhematologic AEs in all 159 patients treated at the recommended phase 2 dose were cytokine release syndrome, injection site erythema, and fatigue. The most common hematologic AEs were neutropenia, anemia, and thrombocytopenia.

According to Dr. Moreau, the take home message from this data is that teclistamab is a novel, tolerable, off-the-shelf agent that is immediately available. As a result, the use of teclistamab for advanced patients with BCMA may be approved fairly soon.

Longer follow-up of multiple myeloma patients receiving teclistamab is necessary.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48611749Sun, 06 Feb 2022 13:21:48 +0000CheckRare EditorsPhillip Moreau, MD, PhD, Head of the Hematology Department at the University Hospital Phillip Moreau, MD, PhD, Head of the Hematology Department at the University Hospital Hôtel-Dieu, discusses the updated results from MajesTEC-1, a phase 1/2 study of...
Multiple myeloma is a rare blood cancer. While the disease is treatable, relapses are common and some patients are refractory to first line treatment.

As Dr. Moreau explains, MajesTEC-1 is a phase 1/2 study testing teclistamab in relapsed/refractory multiple myeloma. Teclistamab is a T-cell redirecting, bispecific IgG4 antibody that targets both B-cell maturation antigen (BCMA) and CD3 receptors to induce T-cell mediated cytotoxicity of BCMA-expressing myeloma cells. In this study, two cohorts were evaluated, one cohort given teclistamab weekly and one biweekly. Updated data on both of these cohorts was presented at the ASH 2021 meeting.

Response rates from both cohorts were encouraging with up to 75% of patients responding to treatment with teclistamab. As of the clinical cutoff, no new safety signals were identified in the phase 2 study. The most common nonhematologic AEs in all 159 patients treated at the recommended phase 2 dose were cytokine release syndrome, injection site erythema, and fatigue. The most common hematologic AEs were neutropenia, anemia, and thrombocytopenia.

According to Dr. Moreau, the take home message from this data is that teclistamab is a novel, tolerable, off-the-shelf agent that is immediately available. As a result, the use of teclistamab for advanced patients with BCMA may be approved fairly soon.

Longer follow-up of multiple myeloma patients receiving teclistamab is necessary.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>349ash2021,b-cell-maturation-antigen,bcma,hematology,hospital,hôtel-dieu,majestec-1,multiple-myeloma,phillip-moreau-md,rare-cancer,rare-diseasefalsefullhttps://www.spreaker.com/episode/lysosomal-storage-diseases-central-symptoms-and-comorbidities--48472123
This CME/CE activity is possible through an educational grant from Takeda, Cheisi, Ultragenyx Pharmaceuticals, and Spark Therapeutics.

To obtain credit for this activity, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48472123Thu, 27 Jan 2022 19:50:56 +0000CheckRare EditorsDrs. Ozlem Goker-Alpan and Swati Sathe discuss how our growing awareness of the central symptoms and comorbidities associated with many lysosomal storage diseases is changing how we manage these rare diseases. This CME/CE activity is possible...
This CME/CE activity is possible through an educational grant from Takeda, Cheisi, Ultragenyx Pharmaceuticals, and Spark Therapeutics.

To obtain credit for this activity, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>4002cheisi,cme,lysosomal-storage-disease,lysosomal-storage-disorder,ozlem-goker-alpan,rare-disease,rare-disorder,spark-therapeutics,swati-sathe,takeda,ultragenyxfalsefullhttps://www.spreaker.com/episode/hereditary-angioedema-hae-highlights-from-acaai-2021-annual-meeting--48470891
HAE is a rare genetic disease that results in immunologic attacks that can be life threatening.

Supported by an educational grant from BioCryst.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48470891Thu, 27 Jan 2022 18:39:42 +0000CheckRare EditorsThis accredited CME activity, led by Jonathan Bernstein, MD, Professor of Medicine at the University of Cincinnati, provides a summary of the latest information about hereditary angioedema (HAE) that was presented at the American College of Allergy,...
HAE is a rare genetic disease that results in immunologic attacks that can be life threatening.

Supported by an educational grant from BioCryst.

To obtain CME credit, please go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1266acaai,checkrare,hae,hereditary-angioedema,orphan-drug,rare-disease,rare-disorder,rare-genetic-diseasefalsefullhttps://www.spreaker.com/episode/positive-long-term-data-of-ibrutinib-venetoclax-as-first-line-treatment-for-chronic-lymphocytic-leukemia-cll--48423377
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48423377Mon, 24 Jan 2022 12:07:04 +0000CheckRare EditorsPaolo Ghia, MD, PhD, Professor at the Università Vita-Salute San Raffaele, Milan, Italy, discusses the updated, long-term data from the phase 2 CAPTIVATE study. This study evaluated ibrutinib plus venetoclax as a first-line treatment for chronic...
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>252captivate-study,chronic-lymphocytic-leukemia,cll,ibrutinib-plus-venetoclax,leukemia,paolo-ghia-md,rare-blood-disease,rare-blood-disorder,rare-cancer,rare-diseasefalsefullhttps://www.spreaker.com/episode/positive-safety-and-efficacy-results-in-rett-syndrome-study--48263447Trofinetide is an analog of insulin-like growth factor 1 (IGF-1) and it is speculated that the orphan drug can restore homeostasis of neuronal signaling in diseases such as Rett syndrome.

​​Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. Common symptoms include hand-wringing; fits of screaming and inconsolable crying; autistic features; panic-like attacks; bruxism; episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Rett syndrome is most commonly caused by a sporadic mutation in the MECP2 gene on the X chromosome. The majority of cases are not inherited from a parent.

Recently, positive top-line results from the Lavender study were announced. As Dr. Neul explains, the Lavender study (NCT04181723) is a phase 3 study evaluating the safety and efficacy of trofinetide in 187 Rett syndrome patients aged 5 to 20 years. Trofinetide met co-primary efficacy endpoints demonstrating statistically significant improvement over placebo in the Rett Syndrome Behaviour Questionnaire (RSBQ) and the Clinical Global Impression of Improvement (CGI-I). On the Rett Syndrome Behaviour Questionnaire (RSBQ), change from baseline to week 12 was -5.1 in the trofinetide arm vs. -1.7 in the placebo arm (P=.0175). The Clinical Global Impression–Improvement (CGI-I) score at week 12 was 3.5 vs. 3.8 (p=0.0030; effect size=0.47). The RSBQ is a caregiver assessment of the core symptoms of Rett syndrome and the CGI-I is a global physician assessment of worsening or improving Rett syndrome.

Additionally, trofinetide demonstrated a statistically significant separation over placebo on the key secondary endpoint, the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist–Social composite score (CSBS-DP-IT–Social) change from baseline to week 12 was -0.1 vs. -1.1 (P=.0064).

According to Dr. Neul, next steps following these results include two open-label extension studies as well as for the sponsor to organize a New Drug Admission (NDA) to the U.S. Food and Drug Administration. This NDA package is expected to be submitted some time this year.
For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48263447Wed, 12 Jan 2022 11:17:14 +0000CheckRare EditorsJeffrey Neul, MD, PhD, Professor of Pediatrics at Vanderbilt University Medical Center, discusses recent top-line results from a phase 3 trial testing trofinetide to treat children with Rett syndrome. Trofinetide is an analog of insulin-like growth...Trofinetide is an analog of insulin-like growth factor 1 (IGF-1) and it is speculated that the orphan drug can restore homeostasis of neuronal signaling in diseases such as Rett syndrome.

​​Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. Common symptoms include hand-wringing; fits of screaming and inconsolable crying; autistic features; panic-like attacks; bruxism; episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Rett syndrome is most commonly caused by a sporadic mutation in the MECP2 gene on the X chromosome. The majority of cases are not inherited from a parent.

Recently, positive top-line results from the Lavender study were announced. As Dr. Neul explains, the Lavender study (NCT04181723) is a phase 3 study evaluating the safety and efficacy of trofinetide in 187 Rett syndrome patients aged 5 to 20 years. Trofinetide met co-primary efficacy endpoints demonstrating statistically significant improvement over placebo in the Rett Syndrome Behaviour Questionnaire (RSBQ) and the Clinical Global Impression of Improvement (CGI-I). On the Rett Syndrome Behaviour Questionnaire (RSBQ), change from baseline to week 12 was -5.1 in the trofinetide arm vs. -1.7 in the placebo arm (P=.0175). The Clinical Global Impression–Improvement (CGI-I) score at week 12 was 3.5 vs. 3.8 (p=0.0030; effect size=0.47). The RSBQ is a caregiver assessment of the core symptoms of Rett syndrome and the CGI-I is a global physician assessment of worsening or improving Rett syndrome.

Additionally, trofinetide demonstrated a statistically significant separation over placebo on the key secondary endpoint, the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist–Social composite score (CSBS-DP-IT–Social) change from baseline to week 12 was -0.1 vs. -1.1 (P=.0064).

According to Dr. Neul, next steps following these results include two open-label extension studies as well as for the sponsor to organize a New Drug Admission (NDA) to the U.S. Food and Drug Administration. This NDA package is expected to be submitted some time this year.
For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>201checkrare,igf-1,jeffrey-neul-md,neurodevelopmental,neurology-rare,rare-disease,rare-disease-advisor,rare-disease-report,rett-syndrome,trofinetidefalsefullhttps://www.spreaker.com/episode/safety-of-the-bispecific-antibody-regn5458-in-multiple-myeloma-patients--48174727
Multiple myeloma is a rare blood cancer associated with uncontrolled growth of plasma cells. While the disease is treatable, relapses are common and some patients are refractory to first line treatment.

As Dr. Zonder explains, REGN5458 is a BCMA x CD3 bispecific antibody that is currently being investigated in a phase 1/2 clinical trial. Data presented at ASH 2021 was related to the phase 1 portion of this study which is assessing the safety, tolerability, and dose-limiting toxicities (DLTs) of REGN5458 in patients with relapsed/refractory multiple myeloma as well as determining a recommended phase 2 dose regimen.

As of data cut-off (June 10, 2021), 68 patients were treated with REGN5458 in the dose escalation cohort with full doses ranging from 3–400 mg. Patients had a median of 5 prior lines of systemic therapy and the median duration of follow-up was 2.4 months.
Treatment-emergent adverse events (TEAE) were reported in 66 patients (97.1%), and Grade 3 or more TEAEs were reported in 52 (76.5%) patients. The most frequent TEAEs were fatigue in 29 patients (42.6%), and cytokine release syndrome (CRS) in 26 patients (38.2%). No patient had Grade 3 or more CRS or discontinued treatment due to CRS. There were no Grade 3 or more neurotoxicity events.

As Dr. Zonder notes, responses were observed at all dose levels and a maximally-tolerated dose was not reached at any level. Amongst patients treated at the 96 and 200 mg dose levels, the response rate was 73.3%. Across all dose levels, 92.6% of all responders achieved at least a very good partial response and 48.1% of responders had a complete response (CR) or stringent CR. Patients without extramedullary plasmacytomas responded more frequently than those with them. The Kaplan–Meier estimated median duration of response was not reached. The probability of duration of response ≥8 months was 92.1% with responses ongoing up to 19 months at the latest data cut-off.

Overall, REGN5458 continues to show an acceptable safety and tolerability profile as well as promising durable responses in triple- to penta-refractory patients with relapsed/refractory multiple myeloma.

To learn more about multiple myeloma and other rare cancers, visit checkrare.com/diseases/cancers/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48174727Wed, 05 Jan 2022 11:32:45 +0000CheckRare EditorsJeffrey A. Zonder, MD, hematologist-oncologist at the Barbara Ann Karmanos Cancer Institute in Detroit, Michigan, discusses data from the first-in-human study testing REGN5458 as a monotherapy for relapsed/refractory multiple myeloma patients...
Multiple myeloma is a rare blood cancer associated with uncontrolled growth of plasma cells. While the disease is treatable, relapses are common and some patients are refractory to first line treatment.

As Dr. Zonder explains, REGN5458 is a BCMA x CD3 bispecific antibody that is currently being investigated in a phase 1/2 clinical trial. Data presented at ASH 2021 was related to the phase 1 portion of this study which is assessing the safety, tolerability, and dose-limiting toxicities (DLTs) of REGN5458 in patients with relapsed/refractory multiple myeloma as well as determining a recommended phase 2 dose regimen.

As of data cut-off (June 10, 2021), 68 patients were treated with REGN5458 in the dose escalation cohort with full doses ranging from 3–400 mg. Patients had a median of 5 prior lines of systemic therapy and the median duration of follow-up was 2.4 months.
Treatment-emergent adverse events (TEAE) were reported in 66 patients (97.1%), and Grade 3 or more TEAEs were reported in 52 (76.5%) patients. The most frequent TEAEs were fatigue in 29 patients (42.6%), and cytokine release syndrome (CRS) in 26 patients (38.2%). No patient had Grade 3 or more CRS or discontinued treatment due to CRS. There were no Grade 3 or more neurotoxicity events.

As Dr. Zonder notes, responses were observed at all dose levels and a maximally-tolerated dose was not reached at any level. Amongst patients treated at the 96 and 200 mg dose levels, the response rate was 73.3%. Across all dose levels, 92.6% of all responders achieved at least a very good partial response and 48.1% of responders had a complete response (CR) or stringent CR. Patients without extramedullary plasmacytomas responded more frequently than those with them. The Kaplan–Meier estimated median duration of response was not reached. The probability of duration of response ≥8 months was 92.1% with responses ongoing up to 19 months at the latest data cut-off.

Overall, REGN5458 continues to show an acceptable safety and tolerability profile as well as promising durable responses in triple- to penta-refractory patients with relapsed/refractory multiple myeloma.

To learn more about multiple myeloma and other rare cancers, visit checkrare.com/diseases/cancers/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>562checkrare,jeffrey-zonder-md,multiple-myeloma,nct03761108,orphan-drug,rare-blood-cancer,rare-cancer,rare-disease,regn5458falsefullhttps://www.spreaker.com/episode/sustained-umrd-demonstrated-in-elderly-cll-patients-receiving-ibrutinib-plus-venetoclax--48035606
CLL is a rare blood cancer resulting in a build-up of lymphocytes in bone marrow, lymph nodes, and blood. The disease is considered treatable, but relapse is very common. Furthermore, many CLL patients cannot withstand the intensive chemotherapy needed to bring them into complete remission.

As Dr. Kater explains, the GLOW study (NCT03462719) is a phase 3 clinical trial evaluating the efficacy and safety of I+V in elderly or unfit CLL patients. In this trial, patients receiving I+V are compared to patients receiving chlorambucil plus obinutuzumab (C+O). The primary endpoint is progression-free survival and that data was presented earlier this year. Overall, it was found that risk of disease progression or death was reduced by approximately 78% in patients receiving I+V compared to those receiving C+O.

At ASH 2021, new data was presented looking at undetectable minimal residual disease (uMRD), which is an established predictive marker for PFS in CLL following chemoimmunotherapy. The new data demonstrate that the average rate of uMRD was significantly higher for I+V vs C+O in bone marrow (51.9% vs 17.1%) and in peripheral blood (54.7% vs 39.0%). Furthermore, sustainability of uMRD response between 3 and 12 months following end of treatment was measured; 80.4% of patients in the I+V cohort had sustained uMRD below 10-5 vs. 26.3% in the C+O cohort.

For more information about CLL and other rare cancers, visit checkrare.com/diseases/cancers/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/48035606Thu, 23 Dec 2021 12:13:19 +0000CheckRare EditorsArnon Kater, MD, PhD, Professor of Internal Medicine in the Faculty of Medicine at the University of Amsterdam discusses new data from the GLOW study of ibrutinib plus venetoclax (I+V) in elderly or unfit chronic lymphocytic leukemia (CLL) patients....
CLL is a rare blood cancer resulting in a build-up of lymphocytes in bone marrow, lymph nodes, and blood. The disease is considered treatable, but relapse is very common. Furthermore, many CLL patients cannot withstand the intensive chemotherapy needed to bring them into complete remission.

As Dr. Kater explains, the GLOW study (NCT03462719) is a phase 3 clinical trial evaluating the efficacy and safety of I+V in elderly or unfit CLL patients. In this trial, patients receiving I+V are compared to patients receiving chlorambucil plus obinutuzumab (C+O). The primary endpoint is progression-free survival and that data was presented earlier this year. Overall, it was found that risk of disease progression or death was reduced by approximately 78% in patients receiving I+V compared to those receiving C+O.

At ASH 2021, new data was presented looking at undetectable minimal residual disease (uMRD), which is an established predictive marker for PFS in CLL following chemoimmunotherapy. The new data demonstrate that the average rate of uMRD was significantly higher for I+V vs C+O in bone marrow (51.9% vs 17.1%) and in peripheral blood (54.7% vs 39.0%). Furthermore, sustainability of uMRD response between 3 and 12 months following end of treatment was measured; 80.4% of patients in the I+V cohort had sustained uMRD below 10-5 vs. 26.3% in the C+O cohort.

For more information about CLL and other rare cancers, visit checkrare.com/diseases/cancers/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>189arnon-kater-md,blood,chronic-lymphocytic-leukemia,cll,elderly-cll-patients,glow-study,ibrutinib,ibrutinib-plus-venetoclax,lymph-nodes,lymphocytes-in-bone-marrow,umrd,university-of-amsterdam,venetoclaxfalsefullhttps://www.spreaker.com/episode/dr-anne-pariser-provides-an-overview-of-nih-s-office-of-rare-diseases-research--47984690
The ORDR is focused on multiple programs to improve the efficacy of rare disease research. Their two largest programs are the Rare Diseases Clinical Research Network (RDCRN) and the Genetic and Rare Diseases Information Center (GARD).

RDCRN provides support for clinical studies and facilitates collaboration, study enrollment and data sharing. Through the RDCRN consortia, researchers work with patient advocacy groups to study over 200 rare diseases at sites across the nation.

GARD provides the public with up-to-date health information on many rare diseases. It has a hotline that people (often parents) can call and ask questions about a particular rare disease.

Numerous other programs are led but the Office of Rare Diseases Research, including the annual “Rare Disease Day at NIH” event held the end of February.

To listen to more interviews with leaders in the rare disease community, sign up for our newsletter at checkrare.com/sign-up-for-our-newsletter/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/47984690Sun, 19 Dec 2021 14:02:55 +0000CheckRare EditorsAnne Pariser, MD, Director of the NCATS’ Office of Rare Diseases Research (ORDR), provides an overview of the ORDR and the research they are involved with. The ORDR is focused on multiple programs to improve the efficacy of rare disease research....
The ORDR is focused on multiple programs to improve the efficacy of rare disease research. Their two largest programs are the Rare Diseases Clinical Research Network (RDCRN) and the Genetic and Rare Diseases Information Center (GARD).

RDCRN provides support for clinical studies and facilitates collaboration, study enrollment and data sharing. Through the RDCRN consortia, researchers work with patient advocacy groups to study over 200 rare diseases at sites across the nation.

GARD provides the public with up-to-date health information on many rare diseases. It has a hotline that people (often parents) can call and ask questions about a particular rare disease.

Numerous other programs are led but the Office of Rare Diseases Research, including the annual “Rare Disease Day at NIH” event held the end of February.

To listen to more interviews with leaders in the rare disease community, sign up for our newsletter at checkrare.com/sign-up-for-our-newsletter/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>298anne_pariser_md,gard,genetic-and-rare-diseases-info,ncats’,nih,office_of_rare_diseases_resear,ordr,rare_disease,rare_disease_research,rare-diseases-clinical-researc,rdcrnfalsefullhttps://www.spreaker.com/episode/new-and-emerging-phenotypes-in-lysosomal-storage-disorders--47817990
This CME/CE activity is possible through an educational grant from Takeda, Cheisi, Ultragenyx Pharmaceuticals, and Spark Therapeutics.

To obtain credit for this activity, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/47817990Tue, 07 Dec 2021 15:24:29 +0000CheckRare EditorsDrs. Ozlem Goker-Alpan and Uma Ramaswami discuss how the success of therapies to treat lysosomal storage disorders like Pompe disease, Gaucher disease, and various MPSs, has created phenotypes that previously did not exist. This CME/CE activity is...
This CME/CE activity is possible through an educational grant from Takeda, Cheisi, Ultragenyx Pharmaceuticals, and Spark Therapeutics.

To obtain credit for this activity, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>3317fabry,gaucher,lysosomal_storage_disease,mps,ozlem_goker-alpan,pompe_disease,uma_ramaswamifalsefullhttps://www.spreaker.com/episode/retinoid-therapy-for-congenital-ichthyosis-shows-promise--47586393
Congenital ichthyosis is a rare genetic skin disorder characterized by dry, thickened, and scaling skin. Individuals with this condition may experience limited range in motion, chronic itching, an inability to sweat, and increased risk of infections. Currently, there is no approved targeted therapy for congenital ichthyosis. Symptom management for the condition is most often achieved with topical treatments (e.g., emollients, keratolytics, frequent baths, pumice stones) aimed at reducing the scaling and/or improving skin lubrication.

As Dr. Mendelsohn explains, for many years it has been known that retinoid therapy could play a crucial role in the treatment of congenital ichthyosis. The issue with retinoid therapies, particularly oral options, is their high toxicity when taken long-term. Timber Pharmaceuticals, with this in mind, developed a retinoid therapy that could be applied topically to reduce toxicity and hopefully allow congenital ichthyosis patients to use the therapy long-term.
The phase 2b CONTROL study was a randomized, double-blind, vehicle-controlled study designed to assess the efficacy and safety of two concentrations of TMB-001 (0.05% and 0.1% isotretinoin) for the treatment of two distinct subtypes of moderate-to-severe congenital ichthyosis (X-linked recessive and lamellar ichthyosis) in patients nine years old or older. Subjects applied TMB-001 twice daily for 12 weeks. The primary endpoint was the reduction of targeted ichthyosis severity, determined by a ≥50% reduction in the validated Visual Index for Ichthyosis Severity (VIIS) scaling score. Secondary endpoints included reduction in overall ichthyosis severity, as measured by a two-point improvement using the Investigator Global Assessment (IGA) scale. Topline results of this study showed reduction in targeted and overall severity of ichthyosis in patients in both treatment groups as measured by the VIIS scaling score and the IGA scale.

As Dr. Mendelsohn mentions, Timber Pharmaceuticals is planning for an end-of-Phase 2 meeting with the FDA in the beginning of 2022 and expects to start the Phase 3 study of TMB-001 in Q2 2022.

To learn more about congenital ichthyosis and other rare skin disorders, visit https://checkrare.com/diseases/skin-conditions/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/47586393Sun, 21 Nov 2021 16:35:01 +0000CheckRare EditorsAlan Mendelsohn, MD, Chief Medical Officer at Timber Pharmaceuticals, gives an update on their congenital ichthyosis clinical trial. Congenital ichthyosis is a rare genetic skin disorder characterized by dry, thickened, and scaling skin....
Congenital ichthyosis is a rare genetic skin disorder characterized by dry, thickened, and scaling skin. Individuals with this condition may experience limited range in motion, chronic itching, an inability to sweat, and increased risk of infections. Currently, there is no approved targeted therapy for congenital ichthyosis. Symptom management for the condition is most often achieved with topical treatments (e.g., emollients, keratolytics, frequent baths, pumice stones) aimed at reducing the scaling and/or improving skin lubrication.

As Dr. Mendelsohn explains, for many years it has been known that retinoid therapy could play a crucial role in the treatment of congenital ichthyosis. The issue with retinoid therapies, particularly oral options, is their high toxicity when taken long-term. Timber Pharmaceuticals, with this in mind, developed a retinoid therapy that could be applied topically to reduce toxicity and hopefully allow congenital ichthyosis patients to use the therapy long-term.
The phase 2b CONTROL study was a randomized, double-blind, vehicle-controlled study designed to assess the efficacy and safety of two concentrations of TMB-001 (0.05% and 0.1% isotretinoin) for the treatment of two distinct subtypes of moderate-to-severe congenital ichthyosis (X-linked recessive and lamellar ichthyosis) in patients nine years old or older. Subjects applied TMB-001 twice daily for 12 weeks. The primary endpoint was the reduction of targeted ichthyosis severity, determined by a ≥50% reduction in the validated Visual Index for Ichthyosis Severity (VIIS) scaling score. Secondary endpoints included reduction in overall ichthyosis severity, as measured by a two-point improvement using the Investigator Global Assessment (IGA) scale. Topline results of this study showed reduction in targeted and overall severity of ichthyosis in patients in both treatment groups as measured by the VIIS scaling score and the IGA scale.

As Dr. Mendelsohn mentions, Timber Pharmaceuticals is planning for an end-of-Phase 2 meeting with the FDA in the beginning of 2022 and expects to start the Phase 3 study of TMB-001 in Q2 2022.

To learn more about congenital ichthyosis and other rare skin disorders, visit https://checkrare.com/diseases/skin-conditions/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>347alan,clinical,congenital,ichthyosis,md,mendelsohn,orphan_drug,rare_disease,timber,trial.,updatefalsefullhttps://www.spreaker.com/episode/overview-of-congenital-ichthyosis--47536388As Dr. Mendelsohn explains, congenital ichthyosis is a rare genetic skin disorder characterized by dry, thickened, and scaling skin. Individuals with this condition may experience limited range in motion, chronic itching, an inability to sweat, and increased risk of infections. Congenital harlequin ichthyosis is a devastating subtype where skin over the entire body is thickened which can inhibit eating and breathing.
Dr. Mendelsohn also notes that there is no approved targeted therapy for congenital ichthyosis. Symptom management for the condition is most often achieved with topical treatments (e.g., emollients, keratolytics, frequent baths, pumice stones) aimed at reducing the scaling and/or improving skin lubrication.
To learn more about congenital ichthyosis and other rare skin disorders, visit https://checkrare.com/diseases/skin-conditions/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/47536388Thu, 18 Nov 2021 11:44:37 +0000CheckRare EditorsAlan Mendelsohn, MD, Chief Medical Officer at Timber Pharmaceuticals, gives a detailed overview of congenital ichthyosis. As Dr. Mendelsohn explains, congenital ichthyosis is a rare genetic skin disorder characterized by dry, thickened, and scaling...As Dr. Mendelsohn explains, congenital ichthyosis is a rare genetic skin disorder characterized by dry, thickened, and scaling skin. Individuals with this condition may experience limited range in motion, chronic itching, an inability to sweat, and increased risk of infections. Congenital harlequin ichthyosis is a devastating subtype where skin over the entire body is thickened which can inhibit eating and breathing.
Dr. Mendelsohn also notes that there is no approved targeted therapy for congenital ichthyosis. Symptom management for the condition is most often achieved with topical treatments (e.g., emollients, keratolytics, frequent baths, pumice stones) aimed at reducing the scaling and/or improving skin lubrication.
To learn more about congenital ichthyosis and other rare skin disorders, visit https://checkrare.com/diseases/skin-conditions/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>279alan,congenital,ichthyosis.,md,mendelsohn,overview,pharmaceuticals,timberfalsefullhttps://www.spreaker.com/episode/milademetan-shows-promise-as-treatment-for-multiple-cancer-types--46936173
As Mr. Vellanki explains, p53 regulates the cell cycle and is essential for tumor suppression. MDM2 is a crucial regulator of p53. If MDM2 is overexpressed, p53 can be inactivated, leading to tumor growth and cancer progression. Milademetan, Rain Therapeutics’ lead product candidate, inhibits MDM2, and, in doing so, is hypothesized to reactivate p53 and thus control cancer growth in approximately 50% of cancers without a p53 mutation.

Mr. Vellanki notes that MDM2 inhibition has been studied for a number of years. However, in the past, blood toxicity has been an issue. One reason for that is previous treatment regimens would allow the drug to accumulate in the tissues of patients. Milademetan does not accumulate in tissues when patients take milademetan for 3 days and then no treatment for 11 days. This allows the drug to be effective but prevents blood toxicity. This dosing schedule, according to Mr. Vellanki, has led to triple-to-quadruple the length of progression free survival compared to standard of care in liposarcoma, milademetan’s main indication.

At the 2021 World Conference of Lung Cancer, pre-clinical data suggested milademetan could also be safe and effective in treating malignant pleural mesothelioma.

To learn more about liposarcoma and other rare cancers, visit checkrare.com/diseases/cancers/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/46936173Tue, 12 Oct 2021 10:50:31 +0000CheckRare EditorsAvanish Vellanki, Cofounder and CEO at Rain Therapeutics, discusses the role of p53 and MDM2 in cancers like liposarcoma, the mechanism of action of milademetan, and the positive pre-clinical data presented at the 2021 World Conference of Lung Cancer....
As Mr. Vellanki explains, p53 regulates the cell cycle and is essential for tumor suppression. MDM2 is a crucial regulator of p53. If MDM2 is overexpressed, p53 can be inactivated, leading to tumor growth and cancer progression. Milademetan, Rain Therapeutics’ lead product candidate, inhibits MDM2, and, in doing so, is hypothesized to reactivate p53 and thus control cancer growth in approximately 50% of cancers without a p53 mutation.

Mr. Vellanki notes that MDM2 inhibition has been studied for a number of years. However, in the past, blood toxicity has been an issue. One reason for that is previous treatment regimens would allow the drug to accumulate in the tissues of patients. Milademetan does not accumulate in tissues when patients take milademetan for 3 days and then no treatment for 11 days. This allows the drug to be effective but prevents blood toxicity. This dosing schedule, according to Mr. Vellanki, has led to triple-to-quadruple the length of progression free survival compared to standard of care in liposarcoma, milademetan’s main indication.

At the 2021 World Conference of Lung Cancer, pre-clinical data suggested milademetan could also be safe and effective in treating malignant pleural mesothelioma.

To learn more about liposarcoma and other rare cancers, visit checkrare.com/diseases/cancers/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>632cancer,liposarcoma,mdm2,milademetan,oncology,p53,rain_therapeutics,rare_cancers,rare_disease,vanish_vellankifalsefullhttps://www.spreaker.com/episode/overview-of-juvenile-idiopathic-arthritis-jia--46935752
As Dr. Lovell explains, JIA is an umbrella term for a number of diseases in individuals under the age of 16 and characterized by chronic arthritis that persists for at least 6 weeks. There are currently seven recognized subsets of JIA. These include: systemic juvenile idiopathic arthritis, oligoarticular juvenile idiopathic arthritis (also known as oligoarthritis), rheumatoid factor positive polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor positive), rheumatoid factor negative polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor negative), psoriatic juvenile idiopathic arthritis, enthesitis-related juvenile idiopathic arthritis, and undifferentiated arthritis. All of these subtypes except systemic JIA are autoimmune conditions while systemic JIA is considered an autoinflammatory disease.

To learn more about JIA and other rare autoimmune/auto-inflammatory diseases, visit checkrare.com/diseases/autoimmune-auto-inflammatory

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/46935752Tue, 12 Oct 2021 10:13:42 +0000CheckRare EditorsDaniel Lovell, MD, MPH, Associate Director of the Division of Rheumatology at Cincinnati Children's Hospital Medical Center, gives an overview of juvenile idiopathic arthritis (JIA). As Dr. Lovell explains, JIA is an umbrella term for a number of...
As Dr. Lovell explains, JIA is an umbrella term for a number of diseases in individuals under the age of 16 and characterized by chronic arthritis that persists for at least 6 weeks. There are currently seven recognized subsets of JIA. These include: systemic juvenile idiopathic arthritis, oligoarticular juvenile idiopathic arthritis (also known as oligoarthritis), rheumatoid factor positive polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor positive), rheumatoid factor negative polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor negative), psoriatic juvenile idiopathic arthritis, enthesitis-related juvenile idiopathic arthritis, and undifferentiated arthritis. All of these subtypes except systemic JIA are autoimmune conditions while systemic JIA is considered an autoinflammatory disease.

To learn more about JIA and other rare autoimmune/auto-inflammatory diseases, visit checkrare.com/diseases/autoimmune-auto-inflammatory

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>186chronic_arthritis,daniel_lovelll_md,jia,juvenile_idiopathic_arthritis,oligoarthritis,rheumatoid_factor_positivefalsefullhttps://www.spreaker.com/episode/new-insights-into-lysosomal-storage-diseases-pathophysiology-is-changing-treatment--45872223
This CME/CE activity is possible through an educational grant from Takeda, Cheisi, Ultragenyx Pharmaceuticals, and Spark Therapeutics.

To obtain credit for this activity, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/45872223Wed, 28 Jul 2021 13:55:47 +0000CheckRare EditorsDrs Ozlem Goker-Alpan and Gregory Grabowski discuss how new research into the pathophysiology of lysosomal storage diseases is changing how we manage these rare diseases. . This CME/CE activity is possible through an educational grant from...
This CME/CE activity is possible through an educational grant from Takeda, Cheisi, Ultragenyx Pharmaceuticals, and Spark Therapeutics.

To obtain credit for this activity, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>3927cme,fabry,gaucher,gregory_grabowski,lysosomal_storage_disorder,mps,ozlem_goker-alpan,pompe,rare_disease,rare_disorderfalsefullhttps://www.spreaker.com/episode/overview-of-sarcomas--45798749
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/45798749Thu, 22 Jul 2021 11:52:24 +0000CheckRare EditorsRoman Groisberg, MD, Medical Oncologist and Director of the Sarcoma Program at Rutgers Cancer Institute of New Jersey/RWJBarnabas Health, gives an overview of sarcomas.
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>210rare_cancer,rare_disease,roman_grosiberg_md,rutgers_university,sarcomafalsefullhttps://www.spreaker.com/episode/current-treatment-options-for-bone-and-soft-tissue-sarcomas--45798708
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/45798708Thu, 22 Jul 2021 11:49:17 +0000CheckRare EditorsRoman Groisberg, MD, Medical Oncologist and Director of the Sarcoma Program at Rutgers Cancer Institute of New Jersey/RWJBarnabas Health, discusses treatment options available for different sarcomas.
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>730rare_cancer,rare_disease,roman_grosiberg_md,rutgers_university,sarcomafalsefullhttps://www.spreaker.com/episode/how-the-mmrf-is-advancing-multiple-myeloma-research--45764482
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/45764482Tue, 20 Jul 2021 11:40:05 +0000CheckRare EditorsDaniel Auclair, MD, Chief Scientific Officer of the Multiple Myeloma Research Foundation (MMRF), discusses the foundation’s history and what they are currently doing to progress multiple myeloma research.
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>861cancer,checkrare,daniel_auclair_md,multiple_myeloma,multiple_myeloma_research_foun,oncology,rare_blood_disease,rare_disease,rare_hematalogic_disorderfalsefullhttps://www.spreaker.com/episode/what-is-krabbe-disease--45612425
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/45612425Wed, 07 Jul 2021 13:16:42 +0000CheckRare EditorsTim Miller, PhD, CEO, President, and Co-Founder of Forge Biologics, gives an overview of Krabbe disease.
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>102forge_biologics,krabbe_disease,tim_millerfalsefullhttps://www.spreaker.com/episode/gene-therapy-clinical-trial-for-krabbe-disease-is-recruiting-patients--45612617
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/45612617Wed, 07 Jul 2021 13:16:32 +0000CheckRare EditorsTim Miller, PhD, CEO, President, and Co-Founder of Forge Biologics, discusses the phase 1/2 RESKUE study which will evaluate FBX-101 for the treatment of Krabbe disease. This clinical trial is currently recruiting.
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>106forge_biologics,krabbe_disease,orphan_drug,rare_disease,tim_millerfalsefullhttps://www.spreaker.com/episode/tcgt-overview-symptoms-and-the-need-for-a-multidisciplinary-approach--45322541
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/45322541Wed, 16 Jun 2021 09:58:53 +0000CheckRare EditorsWilliam D. Tap, MD, Chief of the Sarcoma Medical Oncology Service at Memorial Sloan Kettering Cancer Center, gives an overview of tenosynovial giant cell tumors (TGCT), their symptoms, and why a multidisciplinary team is needed to treat them.
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>289falsefullhttps://www.spreaker.com/episode/acromegaly-highlights-from-endo-2021--45261971
This CME activity is possible through an educational grant from Ipsen BioPharmaceuticals, Inc.

To obtain credit for this activity, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/45261971Fri, 11 Jun 2021 15:11:15 +0000CheckRare EditorsMaria Fleseriu, MD, FACE, Professor of Medicine and Neurological Surgery and Director of the Pituitary Center at Oregon Health and Science University provides an overview of acromegaly research highlights presented at ENDO 2021. This CME activity...
This CME activity is possible through an educational grant from Ipsen BioPharmaceuticals, Inc.

To obtain credit for this activity, please visit https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1093acromegaly,director,fleseriu,health,maria,md,oregon,pituitary,science,the,universityfalsefullhttps://www.spreaker.com/episode/current-and-emerging-treatments-for-lysosomal-storage-diseases--44641433
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/44641433Wed, 05 May 2021 11:48:05 +0000CheckRare EditorsPlease join Drs. Ozlem Goker-Alpan and Ari Zimran as they discuss the latest developments in the treatments for lysosomal storage diseases.
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>4038ari,developments,diseases.,for,goker-alpan,in,lysosomal,ozlem,storage,treatments,zimranfalsefullhttps://www.spreaker.com/episode/fabry-disease-research-highlights-2021--44425355
To obtain CME credit, go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/44425355Wed, 21 Apr 2021 17:46:39 +0000CheckRare EditorsDerralynn Hughes, MD, from the Royal Free London NHS Foundation Trust discusses the latest research about Fabry disease that was presented at WORLDSymposium 2021. To obtain CME credit, go to https://checkrare.com/learning-center/courses/
To obtain CME credit, go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>825about,disease,erralynn,fabry,foundation,free,hughes,london,nhs,research,royal,trustfalsefullhttps://www.spreaker.com/episode/prader-willi-syndrome-overview--44399497
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/44399497Mon, 19 Apr 2021 23:28:40 +0000CheckRare EditorsRudolf Baumgartner, MD, Chief Medical Officer and Head of Clinical Development at Saniona, gives an overview of Prader-Willi syndrome (PWS)
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>282an,and,baumgartner,gives,officer,overview,prader-willi,rudolf,saniona,syndromefalsefullhttps://www.spreaker.com/episode/investigational-drug-provides-improved-quality-of-life-for-pnh-patients--44349793
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/44349793Thu, 15 Apr 2021 20:07:16 +0000CheckRare EditorsCedric Francois, MD, PhD, Co-Founder & CEO of Apellis Pharmaceuticals, discusses the results of the PEGASUS study evaluating the efficacy and safety of pegcetacoplan in patients with paroxysmal nocturnal hemoglobinuria (PNH).
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>454falsefullhttps://www.spreaker.com/episode/what-is-paroxysmal-nocturnal-hemoglobinuria--44349771
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/44349771Thu, 15 Apr 2021 20:05:40 +0000CheckRare EditorsCedric Francois, MD, PhD, Co-Founder & CEO of Apellis Pharmaceuticals, gives an overview of paroxysmal nocturnal hemoglobinuria (PNH).
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>332&,an,apellis,cedric,ceo,co-founder,francois,gives,hemoglobinuria,md,nocturnal,of,overview,paroxysmal,pharmaceuticals,phd,(pnh).falsefullhttps://www.spreaker.com/episode/follicular-lymphoma-and-marginal-zone-lymphoma--44345960
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/44345960Thu, 15 Apr 2021 14:58:24 +0000CheckRare EditorsOwen A. O’Connor, Chief Scientific Officer at TG Therapeutics, gives an overview of follicular lymphoma (FL) and marginal zone lymphoma (MZL).
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>327checkrare,follicular_lymphoma,marginal_zone_lymphoma,owen_o'connor,rare_disease,tg_therapeuticsfalsefullhttps://www.spreaker.com/episode/phase-2-unity-nhl-study-regarding-umbralisib--44345838
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/44345838Thu, 15 Apr 2021 14:51:23 +0000CheckRare EditorsOwen A. O’Connor, Chief Scientific Officer at TG Therapeutics, describes the phase 2 UNITY-NHL study, the results of which led to the FDA’s approval of umbralisib.
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>152chief,o’connor,rare_disease,study,tg,tg_therapeutics,therapeutics,unity-nhlfalsefullhttps://www.spreaker.com/episode/fda-approves-umbralisib-for-marginal-zone-lymphoma-follicular-lymphoma--44345769
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/44345769Thu, 15 Apr 2021 14:47:19 +0000CheckRare EditorsOwen A. O’Connor, Chief Scientific Officer at TG Therapeutics, discusses umbralisib, which was approved for the treatment of relapsed or refractory follicular lymphoma (FL) and relapsed or refractory marginal zone lymphoma (MZL)
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>326fda,follicular,lymphoma,marginal,tg_therapeutics,umbralisib,zonefalsefullhttps://www.spreaker.com/episode/prader-willi-syndrome-overview-and-potential-treatment--44260005
As Dr. Baumgartner explains, PWS is a rare genetic endocrine condition that causes hypotonia and hyperphagia. It is caused by genetic abnormalities in the proximal long arm of chromosome 15. PWS is usually detected in childhood due to hypotonic and hyperphagic features of this disorder. While the obsession with food is the overwhelming symptom of PWS, the children have several other symptoms, including numerous cognitive and behavioral problems.

Unfortunately, there is currently no treatment approved for this condition. However, efforts by organizations such as the Prader-Willi Syndrome Association are helping to raise awareness and funds to find therapies for this rare condition.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/44260005Thu, 08 Apr 2021 17:38:57 +0000CheckRare EditorsRudolf Baumgartner, MD, Chief Medical Officer and Head of Clinical Development at Saniona, gives an overview of Prader-Willi syndrome (PWS) and tesomet, a drug combination under investigation for the treatment of PWS. As Dr. Baumgartner explains,...
As Dr. Baumgartner explains, PWS is a rare genetic endocrine condition that causes hypotonia and hyperphagia. It is caused by genetic abnormalities in the proximal long arm of chromosome 15. PWS is usually detected in childhood due to hypotonic and hyperphagic features of this disorder. While the obsession with food is the overwhelming symptom of PWS, the children have several other symptoms, including numerous cognitive and behavioral problems.

Unfortunately, there is currently no treatment approved for this condition. However, efforts by organizations such as the Prader-Willi Syndrome Association are helping to raise awareness and funds to find therapies for this rare condition.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>283baumgartner,clinical,development,head,medical,officer,overview,prader-willi,(pws),rudolf,saniona,syndrome,tesometfalsefullhttps://www.spreaker.com/episode/rare-disease-clinical-trials-study-designs-and-common-concerns--44259748

As Dr. Stepanians states, the primary hurdle for them is severely reduced sample sizes. This is tied to an increased heterogeneity in these samples, which is another concern. At the same time, due to the reduced availability of participants, exclusion criteria often cannot be strict enough to reduce this heterogeneity. Other major concerns include a relative lack of knowledge about rare diseases and a lack of accessibility to rare disease clinical trials due to reduced study locations.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/44259748Thu, 08 Apr 2021 17:26:51 +0000CheckRare EditorsMiganush Stepanians, PhD, President and CEO of PROMETRIKA, a clinical research organization (CRO), discusses study designs used in rare disease clinical trials and the common struggles researchers face when designing and conducting these trials....

As Dr. Stepanians states, the primary hurdle for them is severely reduced sample sizes. This is tied to an increased heterogeneity in these samples, which is another concern. At the same time, due to the reduced availability of participants, exclusion criteria often cannot be strict enough to reduce this heterogeneity. Other major concerns include a relative lack of knowledge about rare diseases and a lack of accessibility to rare disease clinical trials due to reduced study locations.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>243a,checkrare,clinical,(cro,miganush,organization,prometrika,rare_disease',research,stepaniansfalsefullhttps://www.spreaker.com/episode/gaucher-disease-research-highlights--44033723
The CME is jointly provided by American Academy of CME, Inc. and CheckRare CE, Inc, and supported by an educational grant from Takeda Pharmaceuticals U.S.A., Inc.

To earn a CME credit, go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/44033723Wed, 24 Mar 2021 14:52:07 +0000CheckRare EditorsDerralynn Hughes, MD, Professor of Experimental Haematology at the University College London provides an overview of the exciting new research presented at ASH 2020 focused on Gaucher disease. The CME is jointly provided by American Academy of CME,...
The CME is jointly provided by American Academy of CME, Inc. and CheckRare CE, Inc, and supported by an educational grant from Takeda Pharmaceuticals U.S.A., Inc.

To earn a CME credit, go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>902american_society_hematology,ash,cme,college,derralynn,derralynn_hughes,experimental,gaucher_disease,haematology,hughes,london,research,takeda_pharmaceuticals,the,universityfalsefullhttps://www.spreaker.com/episode/eye-on-neuromyelitis-optica-spectrum-disorder-nmosd--43458590
This CME module about suspecting and diagnosing managing patients with NMOSD during an ophthalmologic visit is hosted by Michael Levy, MD, PhD, Associate Neurologist at Massachusetts General Hospital and Prem Subramanian, MD, PhD, Professor of Ophthalmology at the University of Colorado Hospital.

The CME is jointly provided by American Academy of CME, Inc. and CheckRare CE, Inc, and supported by an educational grant from Alexion Pharmaceuticals.

To earn a CME credit, go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/43458590Sun, 14 Feb 2021 12:30:43 +0000CheckRare EditorsNeuromyelitis optica spectrum disorder (NMOSD) is a rare auto-immune that can often be confused with more common conditions, like multiple sclerosis. Ophthalmologist are often the first persons to see these patients but they may be unfamiliar with the...
This CME module about suspecting and diagnosing managing patients with NMOSD during an ophthalmologic visit is hosted by Michael Levy, MD, PhD, Associate Neurologist at Massachusetts General Hospital and Prem Subramanian, MD, PhD, Professor of Ophthalmology at the University of Colorado Hospital.

The CME is jointly provided by American Academy of CME, Inc. and CheckRare CE, Inc, and supported by an educational grant from Alexion Pharmaceuticals.

To earn a CME credit, go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1656checkrare,checkrare_cme,disorder,michael_levy_md,neuromyelitis,neuromyelitis_optica_sprectrum,nmosd,ophthalmologist,optica,prem_subramanian_md,rare_disease,rare_eye_disease,spectrumfalsefullhttps://www.spreaker.com/episode/pah-highlights-from-chest-2020--43458434
The CME is jointly provided by American Academy of CME, Inc. and CheckRare CE, Inc, and supported by an educational grant from Actelion Pharmaceuticals US, Inc., a Janssen Pharmaceutical Company of Johnson & Johnson.

To earn a CME credit, go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/43458434Sun, 14 Feb 2021 12:15:22 +0000CheckRare EditorsRichard N Channick, MD, Professor of Medicine at David Geffen School of Medicine at UCLA provides an overview of the latest research presented at CHEST 2020 focused on pulmonary arterial hypertension (PAH). The CME is jointly provided by American...
The CME is jointly provided by American Academy of CME, Inc. and CheckRare CE, Inc, and supported by an educational grant from Actelion Pharmaceuticals US, Inc., a Janssen Pharmaceutical Company of Johnson & Johnson.

To earn a CME credit, go to https://checkrare.com/learning-center/courses/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1143arterial,channick,checkrare,checkrare_cme,chest,hypertension,overview,pah,pulmonary,pulmonary_arterial_hypertensio,rare_disease,research,richard,richard_n_channick,uclafalsefullhttps://www.spreaker.com/episode/fabry-disease-research-highlights--43107940
This CME activity is possible through an educational grant from Sanofi Genzyme.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-2020world-fabry-disease-highlights-from-worldsymposium-2020/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/43107940Mon, 25 Jan 2021 14:26:43 +0000CheckRare EditorsOzlem Goker-Alpan, MD, Founder and President of the Lysosomal & Rare Disorders Research & Treatment Center, provides an overview of Fabry disease research highlights presented at WORLDSymposium. This CME activity is possible through an...
This CME activity is possible through an educational grant from Sanofi Genzyme.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-2020world-fabry-disease-highlights-from-worldsymposium-2020/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1251disease,fabry,goker-alpan,highlights,ozlem,research,worldsymposiumfalsefullhttps://www.spreaker.com/episode/gaucher-disease-research-highlights--43107826
This CME activity is possible through an educational grant from Sanofi Genzyme.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-2020world-gaucher-disease-highlights-from-worldsymposium-2020/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/43107826Mon, 25 Jan 2021 14:24:17 +0000CheckRare EditorsNeal Weinreb, MD, FACP, Regional Coordinator and Chair of the International Collaborative Gaucher Group provides an overview of Gaucher disease research highlights presented at WORLDSymposium. This CME activity is possible through an educational...
This CME activity is possible through an educational grant from Sanofi Genzyme.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-2020world-gaucher-disease-highlights-from-worldsymposium-2020/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1455disease,gaucher,highlights,md,neal,research,weinreb,worldsymposiumfalsefullhttps://www.spreaker.com/episode/mucopolysaccharidoses-mpss-research-highlights--43105980Chicago, IL provides an overview of Mucopolysaccharidoses (MPSs) Highlights from WORLDSymposium.

This CME activity is possible through an educational grant from Ultragenyx Pharmaceutical Inc

To obtain credit for this activity, please visit https://checkrare.com/learning/p-2020world-mps-highlights-from-worldsymposium-2020/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/43105980Mon, 25 Jan 2021 11:57:51 +0000CheckRare EditorsBarbara K. Burton, MD from the Northwestern University Feinberg School of Medicine Chicago, IL provides an overview of Mucopolysaccharidoses (MPSs) Highlights from WORLDSymposium. This CME activity is possible through an educational grant from...Chicago, IL provides an overview of Mucopolysaccharidoses (MPSs) Highlights from WORLDSymposium.

This CME activity is possible through an educational grant from Ultragenyx Pharmaceutical Inc

To obtain credit for this activity, please visit https://checkrare.com/learning/p-2020world-mps-highlights-from-worldsymposium-2020/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1146barbara,burton,md,mps,mucopolysaccharidoses,worldsymposiumfalsefullhttps://www.spreaker.com/episode/when-to-suspect-attr-amyloidosis--43105910
This CME activity is possible through an educational grants from Akcea Therapeutics and Alnylam Pharmaceuticals.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-managing-attr-module1-suspecting-attr-amyloidosis/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/43105910Mon, 25 Jan 2021 11:50:29 +0000CheckRare EditorsMorie A Gertz, MD, MACP, Professor of Medicine at the Mayo Clinic College of Medicine and Science in Rochester, Minnesota discusses signs and symptoms that are suspicious of ATTR amyloidosis. This CME activity is possible through an educational...
This CME activity is possible through an educational grants from Akcea Therapeutics and Alnylam Pharmaceuticals.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-managing-attr-module1-suspecting-attr-amyloidosis/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1136akcea,alnylam,amyloidosis,attr,clinic,gertz,mayo,md,morie,pharmaceuticals,suspect,therapeuticsfalsefullhttps://www.spreaker.com/episode/diagnosing-attr-amyloidosis--43105870
This CME activity is possible through an educational grants from Akcea Therapeutics and Alnylam Pharmaceuticals.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-managing-attr-module2-diagnosing-attr-amyloidosis/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/43105870Mon, 25 Jan 2021 11:45:13 +0000CheckRare EditorsMorie A Gertz, MD, MACP, Professor of Medicine at the Mayo Clinic College of Medicine and Science in Rochester, Minnesota discusses best practices to diagnose ATTR amyloidosis. This CME activity is possible through an educational grants from Akcea...
This CME activity is possible through an educational grants from Akcea Therapeutics and Alnylam Pharmaceuticals.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-managing-attr-module2-diagnosing-attr-amyloidosis/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>920alnylam,amyloidosis,attr,diagnosing,gertz,md,morie,pharmaceuticafalsefullhttps://www.spreaker.com/episode/spinal-muscular-atrophy-and-genetic-counseling--43105833
This CME activity is possible through an educational grant from AveXis.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module4-genetic-counseling-sma/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/43105833Mon, 25 Jan 2021 11:38:24 +0000CheckRare EditorsNancy L. Kuntz, MD, FAAN, Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine provides an overview of the importance of genetic counseling for spinal muscular atrophy (SMA). This CME activity is possible...
This CME activity is possible through an educational grant from AveXis.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module4-genetic-counseling-sma/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>775and,atrophy,counseling,genetic,kuntz,md,muscular,nancy,spinalfalsefullhttps://www.spreaker.com/episode/spinal-muscular-atrophy-and-newborn-screening--43105791
This CME activity is possible through an educational grant from AveXis.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module3-newborn-screening-sma/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/43105791Mon, 25 Jan 2021 11:35:23 +0000CheckRare EditorsNancy L. Kuntz, MD, FAAN, Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine provides an overview of the importance of newborn screening for spinal muscular atrophy (SMA). This CME activity is possible...
This CME activity is possible through an educational grant from AveXis.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module3-newborn-screening-sma/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>741and,atrophy,kuntz,md,muscular,nancy,newborn,screening,spinalfalsefullhttps://www.spreaker.com/episode/treating-spinal-muscular-atrophy--43105728
This CME activity is possible through an educational grant from AveXis.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module2-managing-sma/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/43105728Mon, 25 Jan 2021 11:31:41 +0000CheckRare EditorsNancy L. Kuntz, MD, FAAN, Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine provides an overview of best practices to treat spinal muscular atrophy (SMA). This CME activity is possible through an...
This CME activity is possible through an educational grant from AveXis.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module2-managing-sma/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>863at,atrophy,feinberg,kuntz,md,medicine,muscular,nancy,neurology,northwestern,pediatrics,professor,school,sma,spinal,universityfalsefullhttps://www.spreaker.com/episode/diagnosing-spinal-muscular-atrophy--43105680
This CME activity is possible through an educational grant from AveXis.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module1-diagnosing-sma/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/43105680Mon, 25 Jan 2021 11:28:46 +0000CheckRare EditorsNancy L. Kuntz, MD, FAAN, Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine provides an overview of best practices to diagnose spinal muscular atrophy (SMA). This CME activity is possible through an...
This CME activity is possible through an educational grant from AveXis.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module1-diagnosing-sma/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>891atrophy,kiuntz,muscular,nancy,northwestern,sma,spinal,universityfalsefullhttps://www.spreaker.com/episode/nets-research-highlights--43105583
This CME activity is possible through an educational grant from Ipsen BioPharmaceuticals, Inc.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-endo2020-neuroendocrine-tumors-nets-abstract-highlights/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/43105583Mon, 25 Jan 2021 11:23:26 +0000CheckRare EditorsEdward M Wolin, MD, Professor of Medicine from the Icahn School of Medicine at Mount Sinai provides an overview of neuroendocrine tumors research highlights presented at ENDO 2020. This CME activity is possible through an educational grant from...
This CME activity is possible through an educational grant from Ipsen BioPharmaceuticals, Inc.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-endo2020-neuroendocrine-tumors-nets-abstract-highlights/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>762edward,icahn,m,medicine,mount,nets,neuroendocrine,of,school,sinai,tumors,wolinfalsefullhttps://www.spreaker.com/episode/rolling-submission-for-cilta-cel-to-treat-relapsed-refractory-multiple-myeloma--42975696Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/42975696Sun, 17 Jan 2021 11:21:19 +0000CheckRare Editors316falsefullhttps://www.spreaker.com/episode/clinical-data-shows-promise-for-scid-treatment--42872927
SCID is a group of inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells. Common symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea.
As Dr. Shizuru explains, JSP191 is a humanized monoclonal antibody in clinical development as a conditioning agent that clears hematopoietic stem cells from bone marrow.

Preclinical studies have shown that JSP191 as a single agent safely decreases normal and diseased hematopoietic stem cells, including in animal models of SCID, myelodysplastic syndromes (MDS) and sickle cell disease (SCD). JSP191 is currently being evaluated as a sole conditioning agent in a phase 1/2 trial evaluating the safety and tolerability of JSP191 in patients undergoing hematopoietic cell transplant for SCID. JSP191 is also being evaluated in a phase 1 study in patients with MDS or acute myeloid leukemia (AML) who are receiving hematopoietic cell transplant.

To learn more about SCID and other rare autoimmune disorders, visit https://checkrare.com/diseases/autoimmune-auto-inflammatory-disorders/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/42872927Mon, 11 Jan 2021 14:21:23 +0000CheckRare EditorsJudy Shizuru, MD, Blood and Marrow Transplant Specialist, Stanford University School of Medicine, discusses clinical data from an ongoing phase 1 trial of JSP191 in patients with severe combined immune deficiency (SCID). SCID is a group of...
SCID is a group of inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells. Common symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea.
As Dr. Shizuru explains, JSP191 is a humanized monoclonal antibody in clinical development as a conditioning agent that clears hematopoietic stem cells from bone marrow.

Preclinical studies have shown that JSP191 as a single agent safely decreases normal and diseased hematopoietic stem cells, including in animal models of SCID, myelodysplastic syndromes (MDS) and sickle cell disease (SCD). JSP191 is currently being evaluated as a sole conditioning agent in a phase 1/2 trial evaluating the safety and tolerability of JSP191 in patients undergoing hematopoietic cell transplant for SCID. JSP191 is also being evaluated in a phase 1 study in patients with MDS or acute myeloid leukemia (AML) who are receiving hematopoietic cell transplant.

To learn more about SCID and other rare autoimmune disorders, visit https://checkrare.com/diseases/autoimmune-auto-inflammatory-disorders/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>351immune,marrow,medicine,of,overview,raredisease,raredisorder,school,scid,severe,shizuru,specialist,stanford,transplant,universityfalsefullhttps://www.spreaker.com/episode/gene-therapy-showing-promise-in-treating-xlrp--41715051
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/41715051Fri, 30 Oct 2020 12:15:43 +0000CheckRare EditorsMichel Michaelides, MD, of UCL Institute of Ophthalmology; Moorfields Eye Hospital provides an overview of X-linked retinitis pigmentosa (XLRP), including its symptoms, common treatments, as well as a summary of the latest interim data from the MGT009...
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>694gene,in,michaelides,pigmentosa,promise,retinitis,showing,therapy,treating,x-linked,xlrpfalsefullhttps://www.spreaker.com/episode/narcolepsy-highlights-from-aan-2020--41648459Stanford University summarizes key research on narcolepsy presented at the American Academy of Neurology (AAN) 2020 annual meeting.

To obtain CME credit, go to https://checkrare.com/learning/p-aan2020-narcolepsy-abstract-highlights-from-aan-2020/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/41648459Mon, 26 Oct 2020 17:58:58 +0000CheckRare EditorsMaurice Ohayon, MD, PhD, Professor of Psychiatry and Behavioral Sciences at Stanford University summarizes key research on narcolepsy presented at the American Academy of Neurology (AAN) 2020 annual meeting. To obtain CME credit, go to...Stanford University summarizes key research on narcolepsy presented at the American Academy of Neurology (AAN) 2020 annual meeting.

To obtain CME credit, go to https://checkrare.com/learning/p-aan2020-narcolepsy-abstract-highlights-from-aan-2020/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1255checkrare,cme,disease,maurice,narcolepsy,ohayon,rarefalsefullhttps://www.spreaker.com/episode/nmosd-highlights-from-aan-2020--41648158
To obtain CME credit, go to https://checkrare.com/learning/p-aan2020-nmosd-abstract-highlights-from-aan-2020/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/41648158Mon, 26 Oct 2020 17:42:58 +0000CheckRare EditorsMichael Levy, MD, PhD, Associate Professor, Harvard Medical School summarizes key research on neuromyelitis optica spectrum disorder (NMOSD) presented at the American Academy of Neurology (AAN) 2020 annual meeting. To obtain CME credit, go to...
To obtain CME credit, go to https://checkrare.com/learning/p-aan2020-nmosd-abstract-highlights-from-aan-2020/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1200disorder,levy,michael,neuromyelitis,(nmosd),optica,spectrumfalsefullhttps://www.spreaker.com/episode/newborn-screening-and-mps-i--40829476
MPS I meets all the criteria to be part of newborn screening panel, and is included in the Federal Government’s Recommended Uniform Screening Panel (RUSP). As the number of states that include MPS I in the panel increases, clinicians need to be recognize the value newborn screening can bring to persons with these conditions. In this module, our faculty educator will explain the value of having MPS I as part of a newborn screening program.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/40829476Fri, 11 Sep 2020 00:54:38 +0000CheckRare EditorsPaul Orchard, MD from the University of Minnesota Medical School discusses Mucopolysaccharidosis I (MPS I) in this four part learning program. MPS I meets all the criteria to be part of newborn screening panel, and is included in the Federal...
MPS I meets all the criteria to be part of newborn screening panel, and is included in the Federal Government’s Recommended Uniform Screening Panel (RUSP). As the number of states that include MPS I in the panel increases, clinicians need to be recognize the value newborn screening can bring to persons with these conditions. In this module, our faculty educator will explain the value of having MPS I as part of a newborn screening program.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>644lysosomal,mps,mucopolysaccharidosisfalsefullhttps://www.spreaker.com/episode/mucopolysaccharidosis-i-mps-i-and-genetic-counseling--40826925
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/40826925Thu, 10 Sep 2020 21:42:28 +0000CheckRare EditorsMucopolysaccharidosis I (MPS I) follows an autosomal recessive inheritance pattern. Therefore, diagnosing a person with this disease means that their close relatives should also be tested to see if they have the disease or are carriers of the disease....
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>745mps,mucopolysaccharidosisfalsefullhttps://www.spreaker.com/episode/treating-mucopolysaccharidosis-i-mps-i--40826872
Without treatment, the prognosis for individuals with Mucopolysaccharidosis I (MPS I), especially the more severe form of the disease, is discouraging. Early access to treatment is also important in order to reduce disease damage and progression. In this module, our faculty educator will explore strategies for treating MPS I.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/40826872Thu, 10 Sep 2020 21:40:07 +0000CheckRare EditorsPaul Orchard, MD from the University of Minnesota Medical School discusses Mucopolysaccharidosis I (MPS I) in this four-part CME/CE series. Without treatment, the prognosis for individuals with Mucopolysaccharidosis I (MPS I), especially the more...
Without treatment, the prognosis for individuals with Mucopolysaccharidosis I (MPS I), especially the more severe form of the disease, is discouraging. Early access to treatment is also important in order to reduce disease damage and progression. In this module, our faculty educator will explore strategies for treating MPS I.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1001disease,disorder,lysosomal,mps,mucopolysaccharidosis,orchard,rare,storagefalsefullhttps://www.spreaker.com/episode/diagnosing-mucopolysaccharidosis-i-mps-i--40823625
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/40823625Thu, 10 Sep 2020 17:59:34 +0000CheckRare EditorsPaul Orchard, MD from the University of Minnesota Medical School discusses early symptoms for Mucopolysaccharidosis I (MPS I), especially in those with the attenuated form of the disease,. Since this progressive disease has a treatment that can slow...
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>687falsefullhttps://www.spreaker.com/episode/mucopolysaccharidosis-i-mps-i-and-genetic-counseling--40823018
MPS I follows an autosomal recessive inheritance pattern. Therefore, diagnosing a person with this disease means that their close relatives should also be tested to see if they have the disease or are carriers of the disease. Both scenarios can be useful to plan the person’s future as an individual and as a potential parent. In this module, our faculty educator will explore genetic counseling for MPS I.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/40823018Thu, 10 Sep 2020 17:14:50 +0000CheckRare EditorsPaul Orchard, MD from the University of Minnesota Medical School provides an overview of Mucopolysaccharidosis I (MPS I). MPS I follows an autosomal recessive inheritance pattern. Therefore, diagnosing a person with this disease means that their...
MPS I follows an autosomal recessive inheritance pattern. Therefore, diagnosing a person with this disease means that their close relatives should also be tested to see if they have the disease or are carriers of the disease. Both scenarios can be useful to plan the person’s future as an individual and as a potential parent. In this module, our faculty educator will explore genetic counseling for MPS I.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>745cme,disorders,lysosomal,mps,mucopolysaccharidosis,orchard,paul,storagefalsefullhttps://www.spreaker.com/episode/tumor-induced-osteomalacia-tio--39967303
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/39967303Fri, 24 Jul 2020 21:41:37 +0000CheckRare EditorsPeter Tebben, MD, of the Department of Pediatric and Adolescent Medicine, and Assistant Professor of Medicine at the Mayo Clinic in Rochester, MN provides an overview of tumor-induced osteomalacia (TIO).
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>1270and,clinic,department,mayo,osteomalacia,tebben,(tio),tumor-inducedfalsefullhttps://www.spreaker.com/episode/new-study-to-treat-propionic-acidemia-and-methylmalonic-acidemia--39792807
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/39792807Thu, 16 Jul 2020 11:44:58 +0000CheckRare EditorsRecently, the US Food and Drug Administration (FDA) provided clearance to proceed with a Phase 2 clinical trial assessing HST5040 to treat children with propionic acidemia and methylmalonic acidemia, two rare inborn error of metabolism conditions that...
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>163acidemia,marshall,methylmalonic,propionic,summarfalsefullhttps://www.spreaker.com/episode/checkrare-diagnosing-gaucher-disease-before-ert--26987008
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/26987008Sat, 09 May 2020 21:19:33 +0000CheckRare EditorsCyndi Frank, of the Gaucher Community Alliance explains her long diagnostic journey.
Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>312cyndi_frank,gaucher_diseasefalsefullhttps://www.spreaker.com/episode/dr-heather-lau-gaucher-and-covid-19--25556413
Gaucher disease is a genetic disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen.

Many Gaucher disease symptoms, comorbidities, and treatment options can complicate how these patients are managed during the current pandemic.

In this webinar, Dr. Lau explains the:
• Multisystemic manifestations of COVID-19
• Impact of COVID-19 on Gaucher
• Impact of Covid-19 on access to therapy
• Exposure to COVID-19. What to do?
• Ethical considerations of COVID-19 in Gaucher disease patients

To learn more about Gaucher disease and other lysosomal storage disorders, visit https://checkrare.com/gaucher-disease/ or https://www.gaucherdisease.org/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/25556413Wed, 15 Apr 2020 19:24:30 +0000CheckRare EditorsHeather Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of how to manage a person with Gaucher disease during the current COVID-19 pandemic. Gaucher disease is a genetic disorder in which...
Gaucher disease is a genetic disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen.

Many Gaucher disease symptoms, comorbidities, and treatment options can complicate how these patients are managed during the current pandemic.

In this webinar, Dr. Lau explains the:
• Multisystemic manifestations of COVID-19
• Impact of COVID-19 on Gaucher
• Impact of Covid-19 on access to therapy
• Exposure to COVID-19. What to do?
• Ethical considerations of COVID-19 in Gaucher disease patients

To learn more about Gaucher disease and other lysosomal storage disorders, visit https://checkrare.com/gaucher-disease/ or https://www.gaucherdisease.org/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>2017cover-19,disease,gaucher,heather,laufalsefullhttps://www.spreaker.com/episode/podcast-dr-dale-diagnosing-whim-syndrome--25527406Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.


]]>https://api.spreaker.com/episode/25527406Wed, 15 Apr 2020 11:58:51 +0000CheckRare Editors208dale,dr,syndrome,whimfalsefull