Expanded Access use of Intravenous Gene Transfer with AAV9-GLB1 in a Juvenile GM1 Gangliosidosis Participant
· 2026-09-10 · 原文
DOI：10.64898/2026.09.04.26361573v1?rss=1
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-onset GM1 gangliosidosis. During participation in a natural history study before gene transfer, GT01 developed seizures, dysarthria, loss of ambulation, and progressive neurodegeneration. She received a single intravenous administration of AAV9-GLB1 at 1.5x1013 vector genomes per kilogram of body weight. Early improvements included the resolution of dysphagia, increased interactions with others, assisted ambulation, and gains in specific domains of adaptive functioning. She
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1. 人话版
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-onset GM1 gangliosidosis.
2. 领域脉络
来源板块：板块一 · 研究前沿。
3. 机制拆解
Early improvements included the resolution of dysphagia, increased interactions with others, assisted ambulation, and gains in specific domains of adaptive functioning.
4. 证据与数字
During participation in a natural history study before gene transfer, GT01 developed seizures, dysarthria, loss of ambulation, and progressive neurodegeneration.
She received a single intravenous administration of AAV9-GLB1 at 1.5x1013 vector genomes per kilogram of body weight.
5. 反例与边界
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6. 跨领域连接与意外收获
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7. 可复用方法
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8. 术语表
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