GLIA-CTN: Discovering a New Pathogenic Variant in Canavan Disease
Update: 2025-10-28
Description
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.
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.
Comments
In Channel
Download from Google Play
Download from App Store
United States00:00
00:00
x
