AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial.

ABSTRACT:

Background

GM1 gangliosidosis, caused by biallelic variants in GLB1 , results from deficiency of lysosomal β-galactosidase, the enzyme primarily responsible for degradation of GM1 ganglioside. This progressive neurodegenerative disease is uniformly fatal with no approved therapies, but preclinical studies utilizing gene therapy have shown promising results.

Methods

This phase 1-2 open label dose escalation study utilized a single intravenous administration of adeno-associated virus serotype 9 (AAV9) encoding β-galactosidase in the first nine enrolled Type II GM1 gangliosidosis participants. The primary endpoint was safety after 3 years; secondary and exploratory efficacy outcomes included cerebrospinal fluid (CSF) GM1 ganglioside and β-galactosidase, clinical assessme

SUBMITTER: Lewis CJ 

PROVIDER: S-EPMC12324653 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature