rAAV9.CB-hCOX20

rAAV9.CB-hCOX20 is an investigational gene therapy designed to treat Cytochrome c oxidase 20 (COX20) deficiency, a rare mitochondrial disorder characterized by Complex IV dysfunction. Developed by researchers at UMass Chan Medical School, the therapy utilizes a recombinant adeno-associated virus serotype 9 (rAAV9) vector to deliver a functional copy of the human COX20 gene (isoforms 201 or 203) under the control of the ubiquitously active chicken β-actin (CB) promoter. COX20 is a chaperone protein essential for the assembly of mitochondrial complex IV and the maintenance of oxidative phosphorylation. In preclinical mouse models, intravenous administration of the vector has demonstrated the ability to restore COX20 and COX2 protein levels, improve motor coordination, and significantly extend survival.