Limb-girdle Muscular Dystrophy type 2A (LGMD2A), also known as calpain 3 deficiency or calpainopathy, is a progressive disease that causes muscle weakness so severe that those who have it are eventually confined to a wheelchair. But because it is a rare disease and -- although debilitating -- is not life-threatening, it attracts significantly fewer research dollars and thus fewer researchers working to understand the disease and discover a cure. Yet, from the limited amount that is known about calpain 3 deficiency, according to leading researcher Dr. Eric Hoffman, “…it seems to be one of the most 'curable' of the muscular dystrophies”.
Glaring Unmet Needs:
LGMD2A is not completely understood and there is no cure or even a treatment; there had never been a workshop held specifically for LGMD2A researchers; there was no nationally recognized patient registry and therefore, no list of people for researchers to contact about clinical trials of promising therapies; there is little awareness of LGMD2A among the general public.
Coalition to Cure Calpain 3 was founded in October of 2010 to address these unmet needs. Since that time, our volunteer organization has:
- attracted a Scientific Advisory Board that includes Drs. Kevin Campbell, Eric Hoffman and Melissa Spencer
- organized the first ever U.S. workshop focused solely on LGMD2A/Calpainopathy held on October 27, 2011 in Santa Monica, California and followed up with an international workshop co-sponsored with the European Neuromuscular Centre in Amsterdam in November 2013
- in partnership with Melissa Spencer, applied for and been awarded an MDA grant to help fund the conference
- created the first nationally recognized patient registry for LGMD2A
- begun to build awareness of LGMD2A and unite the community by designing and launching our website (www.curecalpain3.org) and by becoming active on the social networking sites of Facebook and Twitter
Adopt a Research Project:
Based on the outcomes of our October scientific workshop where international experts in calpain 3 research shared knowledge and strategized future directions for basic research and therapeutic/diagnostic development, the C3 Scientific Advisory Board and Board of Directors have awarded three grants to support the most promising research projects: Dr. Melissa Spencer (UCLA): "Exploring the Role of Blunted Signaling Pathways in the Pathogenesis of Calpainopathy"; Dr. Lou Kunkel (Boston Children's Hospital): "Using Transcription Activator-like Nucleases (TALENs) to Create a Calpain-3 Null Zebrafish for Subsequent Characterization and Screening for Small Molecule Corrective Agents; and Dr. Isabelle Richard (Genethon): "AAV-mediated Transfer of Calpain 3".
These projects were funded by donations made by those of us who are touched by LGMD2A/calpainopathy in some way as well as those who are not associated with this disease in any particular way but who are moved to support efforts to cure it.
Your support is critical as we continue to focus on research efforts to cure this devastating disease.
We thank you for considering to adopt part of this project as your own and asking your friends and family to do the same. As a community standing together, we have the power to find a cure or a treatment for this devastating disease.
With much gratitude,
Michele Wrubel, Co-founder