AAV9.hGATM

AAV9.hGATM is a self-complementary adeno-associated virus serotype 9 (scAAV9) gene therapy candidate designed for the treatment of Arginine:glycine amidinotransferase (AGAT) deficiency (AGAT-D). AGAT-D is a rare autosomal recessive creatine deficiency syndrome caused by mutations in the GATM gene, which leads to a lack of endogenous creatine production and manifests as intellectual disability, speech impairment, and seizures. The AAV9.hGATM construct delivers a functional human GATM gene to restore AGAT enzyme activity. In preclinical murine models, intravenous administration of the vector demonstrated the ability to cross the blood-brain barrier, restore AGAT protein expression in the liver and kidneys, and normalize creatine levels in the central nervous system and peripheral organs, leading to improvements in myopathy and weight phenotypes.

Other names

AAV9-hGATMAAV-9-hGATMAAV 9-hGATM