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M. Sena-Esteves

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Open access Sep 2026

Expanded Access use of Intravenous Gene Transfer with AAV9-GLB1 in a Juvenile GM1 Gangliosidosis Participant

GM1 gangliosidosis is an inherited, progressively neurodegenerative lysosomal storage disorder with no approved therapy. We report 5-year safety and 3-year clinical, biochemical, and neuroimaging efficacy outcomes following expanded-access intravenous AAV9-GLB1 gene therapy in GT01, a 6-10-year-old female with juvenile...

Connor J. Lewis, Hera Akmal, Precilla D'Souza et al. · 0 citations
Open access Jul 2026

AAV-mediated gene therapy demonstrates phenotypic rescue in a mouse model of Cockayne syndrome

Treatment with AAV9-CSA resulted in a significant increase in life span, and broad distribution of human CSA in the brain and heart, without evidence of vector-related toxicity, and paves the way for clinical translation of an AAV gene therapy for patients with CS into humans.

A. R. Batista, Aine C. Scholand, William S. Callahan et al. · 0 citations

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