AAV9-CAG-hGAA

AAV9-CAG-hGAA is an experimental gene therapy consisting of a recombinant adeno-associated virus serotype 9 (AAV9) vector encoding the human acid alpha-glucosidase (GAA) gene, driven by the CAG promoter for ubiquitous expression. This construct can be modified to include enhanced secretion and uptake signals, such as a signal peptide from binding immunoglobulin protein (BiP) and an IGF2 tag to improve receptor-mediated uptake (especially by muscle, heart, and CNS tissues)[1][3][5]. The **mechanism of action** is to provide a functional GAA enzyme to cells, restoring lysosomal breakdown of glycogen and correcting the underlying defect in Pompe disease[1][3][5]. The therapy is administered systemically (intravenous) or through intrathecal routes to target both cardiac, skeletal muscle, and CNS manifestations of Pompe disease[1][3][5]. Developed primarily for **Pompe disease**, AAV9-CAG-hGAA demonstrates significant efficacy in preclinical animal models for correcting glycogen storage, improving muscle and heart pathology, and partially addressing CNS deficits[1][3][5]. It is experimental and not approved for human use.

Other names

rAAV9-CAG-hGAArAAV-9-CAG-hGAArAAV 9-CAG-hGAAAAV9-GAAAAV-9-GAAAAV 9-GAAAAV9-CAG-GAAAAV-9-CAG-GAAAAV 9-CAG-GAAAAV9/CMV/GAAadeno-associated virus serotype 9 vector encoding human acid alpha-glucosidase