March 3, 2026

AAV9 Gene Therapy in Type II GM1 Gangliosidosis — A Phase 1–2 Trial

Key Points

Improvements in biochemical markers were observed following AAV9 gene therapy treatment, indicating potential efficacy.
Adverse events included severe vomiting in one participant and elevated liver enzymes in all nine participants.
Analysis of neuroimaging patterns revealed positive changes in some participants, highlighting treatment effectiveness.
Findings suggest the need for further investigation to assess long-term effects and safety of AAV9 gene therapy.

Abstract

In this study involving nine participants with type II GM1 gangliosidosis, a single infusion of AAV9 encoding β-galactosidase was associated with adverse events, including severe vomiting in one participant and elevated liver-enzyme levels in all participants. Secondary end-point results suggested improvements in biochemical markers and neuroimaging patterns and stable or reduced rates of developmental deterioration in some measures. (Funded by the National Human Genome Research Institute and others; ClinicalTrials.gov number, NCT03952637.).

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AAV9 Gene Therapy in Type II GM1 Gangliosidosis — A Phase 1–2 Trial

Key Points

Abstract

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