COL6A gene therapy

COL6A gene therapy is an investigational adeno-associated virus (AAV)-based gene replacement therapy being developed by the Telethon Foundation for the treatment of Collagen VI-related dystrophies (COL6-RD), including Bethlem myopathy and Ullrich congenital muscular dystrophy. The therapy is designed to deliver a functional copy of the COL6A genes (primarily COL6A1, but potentially COL6A2 or COL6A3) to skeletal muscle cells to restore the production and secretion of Collagen VI. Collagen VI is a critical component of the extracellular matrix that provides structural support to muscle fibers and regulates mitochondrial function. By restoring this protein, the therapy aims to prevent muscle fiber degeneration, reduce apoptosis, and improve motor function in patients with these progressive neuromuscular disorders. The program is currently in the preclinical stage of development.

Other names

Unnamed gene therapy for Collagen VI Deficiencygene therapy - Collagen VI DeficiencyAAV-COL6A1AAV-COL-6A1AAV-COL 6A1AAV-mediated gene therapy for Collagen VI-related myopathies