AAV9.hPLA2G6

AAV9.hPLA2G6 is an adeno-associated virus serotype 9 (AAV9) mediated gene therapy developed for the treatment of Infantile Neuroaxonal Dystrophy (INAD). INAD is a rare, fatal neurodegenerative disorder caused by biallelic mutations in the PLA2G6 gene, which leads to a deficiency in the calcium-independent phospholipase A2 enzyme. The therapy delivers a functional human PLA2G6 gene to the central nervous system via intracerebroventricular administration. Preclinical studies in mouse and sheep models have shown that a single neonatal dose significantly improves survival, locomotor function, and reduces neuropathological markers such as lysosomal accumulation and neuroinflammation. The program has received Orphan Drug designation from both the FDA and EMA.