AAV-GAA

AAV-GAA is a gene therapy candidate for the treatment of Pompe disease, a lysosomal storage disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA). It utilizes an adeno-associated virus (AAV) vector to deliver a functional copy of the human GAA gene to patient tissues, enabling endogenous production of the enzyme. The therapy aims to correct glycogen accumulation in affected tissues, primarily skeletal muscle, heart, and the central nervous system. Different serotypes and constructs have been studied, including muscle-restricted (AAV8) and liver- or muscle-targeted (AAV9) delivery. The mechanism involves long-term expression of GAA from transduced host cells, promoting sustained glycogen clearance and addressing both muscular and, to some extent, CNS pathology in Pompe disease[1][2][4][5][7][10].

Other names

AAV-GAA