New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Human Gene Therapy on September 12, 2025, titled "Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis."

Read the paper here. 

Learn more about GLIA-CTN. 

Transcript: 

New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.

Discovering a New Pathogenic Variant in Canavan Disease. 

This summary is based on a paper published in the journal Human Gene Therapy on September 12, 2025.

Canavan disease is a progressive type of leukodystrophy caused by variants in the ASPA gene. In patients with Canavan disease, increased levels of N-acetylaspartic acid lead to symptoms including developmental delay, abnormal muscle tone, and macrocephaly (larger than typical head size). In order for patients to receive a complete diagnosis, all pathogenic variants in the ASPA gene must be identified.

In this study, researchers discovered a new pathogenic variant in Canavan disease. First, the team identified five patients with a clinical and biochemical diagnosis of Canavan disease, but no second pathogenic variant. Next, they used the gene editing tool CRISPR-Cas9 and long-read sequencing technique to analyze the gene structure of ASPA in these patients.

Results revealed a previously unidentified variant of the ASPA gene involving the insertion of an SVA_E retrotransposon into intron 4 of the ASPA gene. Authors note that these findings can improve genetic counseling for families and increase access to gene therapy trials.