AAV9-CHKB

AAV9-CHKB is an adeno-associated virus serotype 9 (AAV9) vector-based gene therapy designed for the treatment of congenital megaconial muscular dystrophy (CMD), a rare autosomal recessive disorder caused by mutations in the *CHKB* gene. The *CHKB* gene encodes choline kinase beta, an enzyme essential for the biosynthesis of phosphatidylcholine. Deficiency in this enzyme leads to severe muscle weakness, hypotonia, and characteristic mitochondrial abnormalities (megaconial mitochondria). AAV9-CHKB delivers a functional human *CHKB* coding sequence under the control of a CMV/CAG promoter to restore enzyme activity and correct lipid metabolism imbalances. Developed by Haligene in collaboration with Dalhousie University and Binghamton University, the therapy has shown significant efficacy in preclinical mouse models, where systemic administration rescued muscle histopathology, improved motor function, and prevented cardiac injury.