rAAV.TCAP

rAAV.TCAP is an investigational recombinant adeno-associated virus (rAAV)-based gene replacement therapy designed for the treatment of limb-girdle muscular dystrophy type 2G (LGMD2G, also known as LGMDR7 or telethoninopathy). LGMD2G is a rare, progressive autosomal recessive muscular dystrophy caused by mutations in the *TCAP* gene, which encodes telethonin (TCAP), a critical sarcomeric Z-disc protein. The absence of functional telethonin leads to progressive proximal limb weakness, muscle atrophy, calf hypertrophy, and potentially cardiomyopathy. rAAV.TCAP delivers a functional copy of the human *TCAP* gene to restore telethonin expression and properly co-localize it within the TCAP-titin complex in the Z-discs of sarcomeres, thereby preventing disease progression and ameliorating the muscular phenotype. The therapy is being developed by UMass Chan Medical School, Nationwide Children's Hospital, The Jackson Laboratory, and Cure Rare Disease, and is currently in preclinical development.

Other names

rAAV-TCAPrAAV-mediated TCAP gene therapy