adeno-associated virus vector encoding acid alpha-glucosidase

Adeno-associated virus (AAV) vector encoding acid alpha-glucosidase (GAA) is a gene therapy platform designed for the treatment of Pompe disease (glycogen storage disease type II). Pompe disease is a rare, progressive autosomal recessive metabolic disorder caused by mutations in the GAA gene, leading to a deficiency of the lysosomal enzyme acid alpha-glucosidase. This deficiency results in the pathological accumulation of glycogen within lysosomes, primarily affecting cardiac, skeletal, and smooth muscle tissues, as well as motor neurons. The gene therapy utilizes recombinant AAV vectors (such as AAV1, AAV8, AAV9, or engineered capsids) to deliver a functional, often codon-optimized, human GAA transgene to target cells (such as hepatocytes or myocytes). Once transduced, the cells continuously express and secrete active GAA, enabling systemic cross-correction of neighboring tissues and reducing lysosomal glycogen accumulation, thereby addressing the underlying cause of the disease.