Who We Are

History

In 2008, leaders in the congenital muscle disease (CMD) community recognized the need for a new kind of resource that would serve everyone with a congenital-onset neuromuscular disorder. They envisioned a central hub that would offer affected individuals, their caregivers and families, the opportunity to contribute data about their disease journey in a way that would be meaningful to researchers working to identify treatments.

At the same time, this resource would serve clinicians, researchers and industry with an interest in congenital muscle disease, offering access to de-identified, aggregate data, provided by the affected community — data that would prove vital to advances in care optimization and the discovery of treatments. This resource would connect all CMD stakeholders, providing them with insights never before available in one place.

Today, the Congenital Muscle Disease International Registry (CMDIR) is a robust, cutting-edge data repository that tells the stories of those living with a congenital muscle disorder.

Who We Are

The Congenital Muscle Disease International Registry (CMDIR) is the largest database 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 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.

The team behind the CMDIR continues to refine and perfect this tool in constant evolution to best serve the needs of the CMD stakeholder community.

Operations

  • Rachel Alvarez, Executive Director, Cure CMD
  • Gustavo Dziewczapolski PhD, Scientific Director, Cure CMD, A Foundation Building Strength for Nemaline Myopathy
  • Sarah Foye, Outreach Coordinator, Team Titin
  • Stacy Cossette, Outreach Coordinator, A Foundation Building Strength for Nemaline Myopathy

Advisory

  • Sarah Foye, Team Titin
  • Alan Beggs PhD, Department of Pediatrics, Harvard University, Boston, Massachusetts
  • Carsten Bonnemann MD, NINDS, NIH, Bethesda, Maryland
  • A. Reghan Foley MD, NINDS, NIH, Bethesda, Maryland
  • Sandra Donkervoort MS CGC, NINDS, NIH, Bethesda, Maryland
  • Carla Grosmann MD, Clinical Advisor, Curator
  • Oscar H. Mayer MD, Pulmonologist, Children's Hospital of Philadelphia
  • Hemant Sawnani MD, Pulmonologist, Cincinnati Children's Hospital Medical Center
  • Jodi Wolff PhD, Principal, Strategic Advocacy Solutions, LLC

Funding Partners

Advocacy Partners