LGMD2C or gamma-sarcoglycanopathy is an ultra-rare, severe, debilitating condition characterized by progressive muscle fiber loss, inflammation, and muscle fiber replacement with fat and fibrotic scars, leading to continually deteriorating muscle strength and function. Learn more about LGMD2C.
The goal of gene therapy for LGMD2C is to permanently enable the muscle cells to produce the critical gamma-sarcoglycan protein, after intravenous administration of a vector containing the gamma-sarcoglycan gene and a promoter that only turns on the gene in muscle cells. Establishment of gamma-sarcoglycan production in the muscle cells is expected to result in significant improvement in symptoms, with greater improvement toward normal the earlier in the disease the treatment is administered, and with the potential to prevent any symptoms of the disease from occurring when administered to newborns with confirmed LGMD2C from genetic testing.
Research to date:
The laboratory of L. Rodino-Klapac at Nationwide Children’s Hospital has both safety and efficacy studies underway in a gamma-sarcoglycan deficient mouse model with early results looking promising. A systemic i.v. dosing clinical trial is planned for mid-2020.