In 2008, leaders in the congenital muscular dystrophy (CMD) community began discussing the need for a new kind of resource that would connect and serve the needs of the entire congenital muscle disease community. What they envisioned was a central hub that would bring together those living with the disease, along with their families, friends and caregivers, to connect them with medical research, clinical care, clinical trials and each other.
At the same time, it would be a resource for industries with an interest in congenital muscle disease, allowing limited access to a database of information provided by patients and their families—information that could prove vital to advances in care and treatment. This resource would help connect these stakeholders, while providing them with resources never before available in one place. Today, the result of this endeavor is the CMDIR, a robust and cutting-edge website and registry.
Who We Are
The CMDIR is the only global registry for congenital muscle disease (CMD) with one goal, to achieve global registration of the CMD community. The CMDIR is a central hub for up to date information regarding CMD clinical studies and trials. Through the CMDIR, the CMD community has a home- a place to register with and without genetic confirmation of disease and a means by which to be contacted for clinical news.
The organizers of the CMDIR come from leaders in the non-profit sector and academic institutions. Regardless of their individual backgrounds, the CMDIR thought leaders share a common goal to increase the community’s ability to help one another through improved communication, and by doing so, to help those affected by congenital muscular dystrophy (CMD).
The information provided on the CMDIR has been developed with the review, direction and advice from a group of experts in congenital muscular dystrophy. Advisors contribute to CMDIR in many areas including reviewing educational materials, providing programmatic direction, advising on processes and procedures, and facilitating opportunities for outreach and collaboration.
The operations team behind this incredible resource continues to refine and perfect the site so that it evolves to best serve the needs of the entire community. We are open to your suggestions and feedback.
- Sarah Foye, CMDIR Board President, titinmyopathy.com
- Patrick May, Cure CMD, curecmd.org
- Alison Frase, Joshua Frase Foundation, joshuafrase.org
- Marc Guilet, A Foundation Building Strength, buildingstrength.org
- Michael Goldberg, RYR1 Foundation, ryr1.org
- Rachel Alvarez, Director of Operations
- Perry Shieh, MD, Medical Director
- Sabine de Chastonay, PhD, Research Associate
- Carla Grosmann, MD, Pediatric Neurologist
- Robin Swallow, Registrant Outreach & Data Curation
- Scott Wong, Research Associate
- Charlene York, Travel Coordinator & Data Curation
- Janet Young, Registrant Outreach & Data Coordination
- Stacy Cossette, MS, Tissue Repository Coordinator
- Kyle Brown, CEO & Founder, Patient Crossroads Rare Disease Patient Registries
- Jud Rhode, CTO & Co-Founder, Patient Crossroads Rare Disease Patient Registries
Scientific and Medical Advisory Board
- Alan Beggs, PhD, Department of Pediatrics, Harvard University, Boston, Massachusetts
- Carsten Bonnemann, MD, PhD, NINDS Clinic- Congenital Muscle Disease, Bethesda, Maryland
- Dione Kobayashi PhD, Cydan
Sponsors and Partners:
- Cure CMD, curecmd.org
- Joshua Frase Foundation (Myotubular Myopathy), joshuafrase.org
- A Foundation Building Strength for Nemaline Myopathy, buildingstrength.org
- TREAT-NMD, www.treat-nmd.eu
- S.A.M. (Struggle Against Muscular Dystrophy), helpsam.info
- RYR-1 Foundation, ryr1.org
- Claritas Genomics, claritasgenomics.com
- Emory Genetics Lab, Department of Human Genetics, genetics.emory.edu
- Medical Neurogenetics, medicalneurogenetics.com
- Prevention Genetics, preventiongenetics.com
- University of Chicago Genetic Services, dnatesting.uchicago.edu
- Muscular Dystrophy Association, mda.org
- Muscular Dystrophy Campaign, United Kingdom, muscular-dystrophy.org
- Muscular Dystrophy Association, Australia, www.mda.org.au
- Association Francaise Contre Les Myopathies (AFM), France, afm-france.org
- Will-Cure, will-cure.org
- Audentes Therapeutics, audentestx.com
- Valerion Therapeutics, valerion.com