REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD: P.340 Coalition to cure calpain 3: A patient organization committed to treating and ultimately curing limb girdle muscular dystrophy type 2A

Abstract

Coalition to cure calpain 3 (C3) was founded in 2010 with a mission to fund research and clinical trials relevant to limb girdle muscular dystrophy type 2A (LGMD2A, also called LGMD R1 calpain 3-related), a form of calpainopathy, to support a network of families affected by this disease, and to raise awareness of LGMD2A in the global community. We are governed by a Board of Directors including two LGMD2A patients, a Scientific Advisory Board composed of academic scientists, and a Scientific Director. C3 provides support for promising research focused on understanding pathomechanisms of or finding treatments for LGMD2A. LGMD2A is characterized by proximal muscle weakness. Patients are usually diagnosed before their second decade and experience progressive skeletal muscle wasting in all muscles leading to loss of ambulation approximately 10 years after diagnosis. LGMD2A is caused by mutations in CAPN3, the gene which encodes the proteolytic enzyme calpain 3. Despite being the most common subtype of limb girdle muscular dystrophy, the pathophysiology of LGMD2A is still not well understood. Furthermore, the biological function of the calpain 3 enzyme is not entirely clear. C3 has funded research on the basic biology of calpain 3, has supported preclinical studies in LGMD2A models, and has sponsored the generation of tools for use in studying LGMD2A. C3 has also organized four workshops (in the US in 2011, 2018, and 2019, and in the Netherlands in 2013) that have been instrumental in bringing together experts in relevant fields to discuss basic science and clinical information pertaining to LGMD2A. A travel grant program, aimed at early career researchers, provides travel support for investigators to present on LGMD2A at major scientific conferences. Additionally, C3 has created the first global patient registry for LGMD2A. Our current priorities are to fund research efforts and support collaborations focused on finding a treatment for LGMD2A.