https://www.spreaker.com/podcast/the-checkrare-brief--7228680
The CheckRare Brief delivers a concise roundup of the week's most important developments in rare diseases. Each episode covers FDA approvals, clinical trial updates, conference highlights, scientific publications, and industry news that matter to healthcare professionals, researchers, advocates, and the rare disease community.

Produced by CheckRare, The CheckRare Brief helps you stay informed—in just a few minutes each week.

]]>enMedicineCopyright CheckRare Mediahttps://d3wo5wojvuv7l.cloudfront.net/t_rss_itunes_square_1400/images.spreaker.com/original/dd191b3679438af2eb5057ffe3975087.jpghttps://www.spreaker.com/podcast/the-checkrare-brief--7228680Mon, 17 Aug 2026 15:28:05 +0000CheckRare MediaCheckRare Mediapublisher@checkrare.comA weekly roundup of the latest news in rare disease. The CheckRare Brief delivers a concise roundup of the week's most important developments in rare diseases. Each episode covers FDA approvals, clinical trial updates, conference highlights,...
The CheckRare Brief delivers a concise roundup of the week's most important developments in rare diseases. Each episode covers FDA approvals, clinical trial updates, conference highlights, scientific publications, and industry news that matter to healthcare professionals, researchers, advocates, and the rare disease community.

Produced by CheckRare, The CheckRare Brief helps you stay informed—in just a few minutes each week.

]]>false4cd1cdbd-6fc8-5002-945c-adb6240f640eepisodichttps://www.spreaker.com/episode/fda-approves-new-narcolepsy-treatment--73858196
The US Food and Drug Administration (FDA) approved Takeda’s Orzeyful (oveporexton) for narcolepsy type 1 on August 5, 2026. The approval came nearly two months ahead of its September 30th PDUFA date. Oveporexton is an orexin receptor 2 agonist designed to directly target the pathway involved and the underlying biology of narcolepsy. This novel mechanism of action could dramatically change how patients with narcolepsy are managed, giving patients more choices. Plans to dispense the drug via specialty pharmacies following the DEA’s review are underway.

CAMP4 is advancing CMP-002 into a first-in-human phase 1/2 trial for SYNGAP1-related disorder, a genetic condition that causes debilitating autistic-like behaviors, seizures, gastrointestinal problems, and intellectual disabilities. There are currently no treatments approved for this rare condition. CMP-002 is an antisense oligonucleotide that binds to regulatory RNA to increase activity of the SYNGAP1 gene and restore SYNGAP1 protein to normal levels. 

This clinical trial is a good example of how the rare disease landscape has changed. Advances in genetic testing and the work of patient advocacy groups helped identify these patients and give a once unknown condition a name. Identifying a patient population is crucial to understanding the natural history of the disease, developing clinical trials, and ultimately attracting investment in treatments.
Finally, BioMarin has terminated the development of enzyme replacement therapy BMN 401 after their phase 3 trial in ENPP1 deficiency failed to meet one of its two co-primary endpoints. ENPP1 deficiency is a genetic disorder that results in a reduction of pyrophosphate, causing rickets or soft bones. While the trial showed the drug improving pyrophosphate levels, improvements in bone health, the clinically relevant measure required by the FDA, were not observed. This failed trial is very disheartening for the ENPP1 community, but will hopefully aid in providing the foundation for more robust clinical trials going forward.

Sources
FDA approves Orzeyful (oveporexton)
https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-treat-full-range-narcolepsy-type-1-symptoms

SYNGAP 1 Clinical Trial To Begin
https://www.globenewswire.com/news-release/2026/07/27/3333378/0/en/camp4-therapeutics-secures-australian-regulatory-clearance-to-initiate-first-in-human-clinical-trial-of-cmp-002-in-patients-with-syngap1-related-disorder.html

EENP1 Clinical Program Terminated
https://www.prnewswire.com/news-releases/biomarin-reports-second-quarter-2026-financial-and-operating-results-302845167.html
2026 Orphan Drugs: PDUFA Dates and FDA Approvals
https://checkrare.com/2026-orphan-drugs-pdufa-dates-and-fda-approvals/


Produced by CheckRare.

Explore additional CME activities, physician interviews, podcasts, and rare disease resources at CheckRare.com. Subscribe to the CheckRare Podcast Network for the latest rare disease education, expert interviews, and weekly news.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.
]]>https://api.spreaker.com/episode/73858196Wed, 12 Aug 2026 19:07:04 +0000CheckRare MediaOn this week’s episode of The CheckRare Brief, we discuss FDA’s approval of Orzeyful (oveporexton) to treat patients with narcolepsy type 1, CAMP4’s first-in-human clinical trial for patients with SYNGAP1-related disorders, and BioMarin’s termination...
The US Food and Drug Administration (FDA) approved Takeda’s Orzeyful (oveporexton) for narcolepsy type 1 on August 5, 2026. The approval came nearly two months ahead of its September 30th PDUFA date. Oveporexton is an orexin receptor 2 agonist designed to directly target the pathway involved and the underlying biology of narcolepsy. This novel mechanism of action could dramatically change how patients with narcolepsy are managed, giving patients more choices. Plans to dispense the drug via specialty pharmacies following the DEA’s review are underway.

CAMP4 is advancing CMP-002 into a first-in-human phase 1/2 trial for SYNGAP1-related disorder, a genetic condition that causes debilitating autistic-like behaviors, seizures, gastrointestinal problems, and intellectual disabilities. There are currently no treatments approved for this rare condition. CMP-002 is an antisense oligonucleotide that binds to regulatory RNA to increase activity of the SYNGAP1 gene and restore SYNGAP1 protein to normal levels. 

This clinical trial is a good example of how the rare disease landscape has changed. Advances in genetic testing and the work of patient advocacy groups helped identify these patients and give a once unknown condition a name. Identifying a patient population is crucial to understanding the natural history of the disease, developing clinical trials, and ultimately attracting investment in treatments.
Finally, BioMarin has terminated the development of enzyme replacement therapy BMN 401 after their phase 3 trial in ENPP1 deficiency failed to meet one of its two co-primary endpoints. ENPP1 deficiency is a genetic disorder that results in a reduction of pyrophosphate, causing rickets or soft bones. While the trial showed the drug improving pyrophosphate levels, improvements in bone health, the clinically relevant measure required by the FDA, were not observed. This failed trial is very disheartening for the ENPP1 community, but will hopefully aid in providing the foundation for more robust clinical trials going forward.

Sources
FDA approves Orzeyful (oveporexton)
https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-treat-full-range-narcolepsy-type-1-symptoms

SYNGAP 1 Clinical Trial To Begin
https://www.globenewswire.com/news-release/2026/07/27/3333378/0/en/camp4-therapeutics-secures-australian-regulatory-clearance-to-initiate-first-in-human-clinical-trial-of-cmp-002-in-patients-with-syngap1-related-disorder.html

EENP1 Clinical Program Terminated
https://www.prnewswire.com/news-releases/biomarin-reports-second-quarter-2026-financial-and-operating-results-302845167.html
2026 Orphan Drugs: PDUFA Dates and FDA Approvals
https://checkrare.com/2026-orphan-drugs-pdufa-dates-and-fda-approvals/


Produced by CheckRare.

Explore additional CME activities, physician interviews, podcasts, and rare disease resources at CheckRare.com. Subscribe to the CheckRare Podcast Network for the latest rare disease education, expert interviews, and weekly news.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.
]]>422false12fullhttps://www.spreaker.com/episode/episode-1-fda-advisory-board-s-concerns-about-new-duchenne-drug-brain-fog-in-immune-thrombocytopenia-august-is-sma-awareness-month--73519524
Madaline Spencer, Podcast Producer; James Radke, PhD; Education Director; Peter Ciszewski,  Founder and CEO, CheckRare 

 References for this episode’s topics: FDA Advisory Report on Capricor Therapeutics’ Orphan Drug to Treat Cardiomyopathy in Duchenne Muscular DystrophyFDA Advisory Board Report: LinkCapricor’s response: Link Cognitive Decline in Immune ThrombocytopeniaInterview with Dr. David Kuter: Link August is SMA Awareness MonthSMA Awareness Page: Link The CheckRare Podcast Network is dedicated to delivering news, education, and expert insights across the rare disease community. From physician interviews and conference coverage to weekly news updates and patient stories, our family of podcasts connects healthcare professionals, researchers, advocates, industry leaders, and patients with the information that matters most. Produced by CheckRare, each series is designed to advance awareness, education, and clinical care in rare diseases. For more information, visit www.CheckRare.com

Produced by CheckRare.

Explore additional CME activities, physician interviews, podcasts, and rare disease resources at CheckRare.com. Subscribe to the CheckRare Podcast Network for the latest rare disease education, expert interviews, and weekly news.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.
]]>https://api.spreaker.com/episode/73519524Wed, 05 Aug 2026 22:32:15 +0000CheckRare MediaThe CheckRare Brief delivers a concise summary of the week's most important developments in rare diseases. Each episode covers FDA approvals, clinical trial updates, conference highlights, scientific publications, and industry news that matter to...
Madaline Spencer, Podcast Producer; James Radke, PhD; Education Director; Peter Ciszewski,  Founder and CEO, CheckRare 

 References for this episode’s topics: FDA Advisory Report on Capricor Therapeutics’ Orphan Drug to Treat Cardiomyopathy in Duchenne Muscular DystrophyFDA Advisory Board Report: LinkCapricor’s response: Link Cognitive Decline in Immune ThrombocytopeniaInterview with Dr. David Kuter: Link August is SMA Awareness MonthSMA Awareness Page: Link The CheckRare Podcast Network is dedicated to delivering news, education, and expert insights across the rare disease community. From physician interviews and conference coverage to weekly news updates and patient stories, our family of podcasts connects healthcare professionals, researchers, advocates, industry leaders, and patients with the information that matters most. Produced by CheckRare, each series is designed to advance awareness, education, and clinical care in rare diseases. For more information, visit www.CheckRare.com

Produced by CheckRare.

Explore additional CME activities, physician interviews, podcasts, and rare disease resources at CheckRare.com. Subscribe to the CheckRare Podcast Network for the latest rare disease education, expert interviews, and weekly news.

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