LGMD2L, ANO5-related muscle disease or anoctaminopathy is an ultra-rare, often 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 LGMD2B.
The goal of gene therapy for LGMD2L is to permanently enable the muscle cells to produce the critical anoctamin protein, after intravenous administration of a vector containing the anoctamin 5 gene and a promoter that only turns on the gene in muscle cells. Establishing anoctamin 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 LGMD2L from genetic testing.
Research to date:
The L. Rodino-Klapac laboratory developed and validated an animal model of LGMD2L and gene therapy safety and efficacy studies are underway. Research is expected to progress through 2019 in support of an IND application for the initiation of human clinical trials.