Impact

Establishing a research grant program to stimulate research into both the biology of calpainopathy and the development of therapies: To date, 25 calpainopathy-related research grants have been awarded to investigators around the world, including University of California Los Angeles, Harvard Medical School, Généthon, and Stanford University, with a total funding commitment of $3,000,000+.

Attracting renowned researchers to the field of calpainopathy research, which helps us build a critical mass of scientists and ideas to drive potential treatments and future approved drugs

Building a Scientific Advisory Board that includes scientific leaders in muscular dystrophy research.

Launching the first and only global LGMD2A/Calpainopathy Registry and conducting extensive patient outreach: It is critical for future clinical trials that we have a registry that is comprehensive and accurate. This is essential for the planning and conducting of clinical trials, so we encourage all patients to obtain a genetic diagnosis.

Organizing scientific conferences dedicated specifically to calpainopathy, held in the US and Europe: The 2011 meeting was the first-ever gathering of scientists from around the world, convened for the sole purpose of exchanging knowledge and ideas about LGMD2A/R1. The most recent conference in 2024 included researchers, industry representatives, clinicians, physical therapists, and patients and expanded the discussion to include LGMDD4.

Advocating for the calpainopathy patient community to advance awareness, research, and policy initiatives: Successful collaborations with researchers, industry partners, policymakers, and patient organizations include the Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting, the subsequent Voice of the Patient Report presented to the FDA, and the LGMD2A/R1 Standards of Care Workshop.