In 2008, leaders in the congenital muscle disease (CMD) community realized the need for a new kind of resource that would connect and serve 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 one other.
At the same time, this resource would serve clinicians, researchers and industry with an interest in congenital muscle disease, allowing deidentified, aggregate access to a database of information provided by affected individuals 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 largest global registry of congenital muscle disease (CMD) affected individuals. Our goal is to achieve global registration of the CMD community and serve as the central hub for up to date information regarding CMD clinical studies and trials, expert diagnostics and care, and resources to educate affected individuals, families and caregivers. Through the CMDIR, the CMD community has a home, a place to register - with or without genetic confirmation - and a means by which to be notified about news, resources and opportunities to participate in clinical trials.
The data collected and information provided has been developed with the review, direction and advice of research and clinical experts, affected individuals and caregivers, and industry and government representatives in an effort to create a meaningful tool designed to drive the community toward treatments. Advisors contribute 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 the CMDIR continues to refine and perfect this tool in constant evolution to best serve the needs of the CMD stakeholder community.
- Rachel Alvarez, Executive Director
- Gustavo Dziewczapolski PhD, Scientific Director
- Justin Park, Clinical Research Associate
- Stacy Cossette MS, BioBank and Tissue Repository Coordinator
- Doenica Palacio, Outreach & Data Curation
- Robin Swallow, Outreach & Data Curation (volunteer)
- Charlene York, Outreach & Data Curation (volunteer)
- Sarah Foye, OT, Team Titin
- Alan Beggs, PhD, Department of Pediatrics, Harvard University, Boston, Massachusetts
- Carsten Bonnemann, MD, NINDS, NIH, Bethesda, Maryland
- Reghan Foley, MD, NINDS, NIH, Bethesda, Maryland
- Sandra Donkervoort, MS, CGC, NINDS, NIH, Bethesda, Maryland
- Carla Grosmann MD, Clinical Advisor
- Oscar H. Mayer, MD, Pulmonologist, Children's Hospital of Philadelphia
- Hemant Sawnani, MD, Pulmonologist, Cincinnati Children's Hospital Medical Center
- Jodi Wolff, PhD, Head of Patient Advocacy, Santhera Pharmaceuticals
Funding Advocacy Partners
- Cure CMD (registry administrator)
- A Foundation Building Strength for Nemaline Myopathy
- Team Titin
- Noelia Foundation