rAAV vectors harboring human HEXA and HEXB transgenes

rAAV vectors harboring human HEXA and HEXB transgenes (also known as AXO-AAV-GM2 or CAM-GM2) is an investigational gene therapy designed to treat GM2 gangliosidosis, including Tay-Sachs disease and Sandhoff disease. The therapy consists of two monocistronic recombinant adeno-associated virus serotype rh8 (rAAVrh8) vectors, AAVrh8-HEXA and AAVrh8-HEXB, which carry functional copies of the human alpha and beta hexosaminidase subunit transgenes, respectively. By delivering both genes directly to the central nervous system via neurosurgical intracranial routes (such as bilateral thalamic, intrathecal, and intra-cisterna magna injections), the therapy aims to restore lysosomal beta-hexosaminidase A (HexA) enzyme activity and prevent the toxic accumulation of GM2 gangliosides in neurons. Originally developed by researchers at the University of Massachusetts Chan Medical School and Auburn University, the program was licensed to Sio Gene Therapies (formerly Axovant) before being returned to academic sponsors following Sio's liquidation. It is currently being evaluated in Phase 1/2 clinical trials.

Other names

AAVrh8-HEXA and AAVrh8-HEXBAAVrh-8-HEXA and AAVrh8-HEXBAAVrh 8-HEXA and AAVrh8-HEXBAAVrh8-HEXA + AAVrh8-HEXBrAAVrh8-HexA/HexB