rAAV1-CMV-GAA

rAAV1-CMV-GAA is an experimental gene therapy designed to treat Pompe disease by delivering a functional copy of the human acid alpha-glucosidase (GAA) gene directly to muscle tissue using a recombinant adeno-associated virus serotype 1 (rAAV1) vector under the control of a cytomegalovirus (CMV) promoter. The primary mechanism involves transducing diaphragm muscle cells with the GAA gene to restore enzyme activity and improve respiratory function in patients with Pompe disease, particularly those with ventilatory insufficiency. Early-phase clinical trials have demonstrated safety and some improvement in breathing function; however, further studies are needed to establish efficacy. The therapy is not yet approved for clinical use[2][3][4][5]. Developed by the University of Florida.

Other names

recombinant adeno-associated virus 1 carrying cytomegalovirus promoter-driven acid alpha-glucosidase generecombinant AAV1 GAA gene therapy