dss.rAAV9-Col1a2OPT

dss.rAAV9-Col1a2OPT is an experimental gene therapy designed to treat Osteogenesis Imperfecta (OI), a rare genetic disorder characterized by skeletal fragility and frequent fractures due to mutations in type I collagen genes. The therapy utilizes a bone-tropic recombinant adeno-associated virus serotype 9 (dss.rAAV9) vector to deliver a codon-optimized version of the human COL1A2 gene (Col1a2OPT) specifically to osteoblast-lineage cells. By introducing functional COL1A2, the treatment aims to dilute the dominant-negative effects of pathogenic COL1A2 variants, thereby restoring the structural integrity of the bone matrix, improving bone mass and biomechanical strength, and reducing spontaneous fractures. Preclinical studies in mouse models of type III OI and patient-derived cells have demonstrated significant improvements in bone turnover rates, collagen matrix mineralization, and osteocyte network organization. It was developed by researchers at the University of Massachusetts Chan Medical School.