AAV-MT-ΔNter2-GDE

AAV-MT-ΔNter2-GDE is an adeno-associated virus (AAV) gene therapy candidate developed by Généthon for the treatment of Glycogen Storage Disease type III (GSDIII). GSDIII is a rare metabolic disorder caused by mutations in the *AGL* gene, which encodes the glycogen debranching enzyme (GDE). Deficiency of GDE leads to the toxic accumulation of glycogen in the liver, heart, and skeletal muscles, resulting in hypoglycemia, cardiomyopathy, and progressive myopathy. Because the full-length GDE cDNA (4.6 kb) exceeds the standard packaging capacity of AAV vectors, AAV-MT-ΔNter2-GDE utilizes a functional, N-terminal-truncated version of the transgene (ΔNter2-GDE, 4.3 kb). The therapy employs a muscle-tropic AAV vector (AAV-MT) designed to enhance delivery to cardiac and skeletal muscles while significantly reducing liver sequestration compared to standard AAV9 vectors. Preclinical data in mouse models and non-human primates have shown that the therapy reduces glycogen levels and improves muscle function, supporting its potential clinical translation.

Other names

AAV-MT-mediated ΔNter2-GDE