rAAV-GAA

**rAAV-GAA** is a recombinant adeno-associated virus (AAV) gene therapy vector that encodes human acid alpha-glucosidase (GAA), the lysosomal enzyme deficient in Pompe disease. Different serotypes (e.g., AAV9, AAV8, AAV1, AAVB1) and tissue-specific promoters (e.g., desmin, liver-specific) are employed in various constructs to direct GAA expression to targeted tissues like skeletal muscle, heart, or liver[1][2][4]. The therapy’s goal is to restore GAA activity in affected tissues, reducing pathogenic glycogen accumulation and thereby ameliorating the clinical manifestations of Pompe disease, including progressive muscle weakness and cardiomyopathy. Mechanistically, rAAV-GAA is a gene therapy modality in which the administered rAAV vector transduces host cells for sustained expression of the GAA enzyme. Several configurations are in preclinical development and early-phase clinical trials, notably with muscle-directed (e.g. rAAV9-DES-hGAA) and liver depot (e.g. rAAV8-LSP-hGAA) strategies to optimize safety, immunotolerance, and efficacy[1][2][3][4].

Other names

recombinant adeno-associated virus expressing human acid alpha-glucosidaseAAV-GAA gene therapy