In 2001 the MD-CARE Act was first signed into law, establishing a federal advisory council focused on muscular dystrophy (the Muscular Dystrophy Coordinating Committee, or MDCC), and centers of excellence in muscular dystrophy known as “Wellstone Centers.” The MDCC was given the task of developing an action plan for research and care for all forms of muscular dystrophy, to coordinate both public and private efforts in this area. The first version of the Action Plan was released in 2005. Ten years later, the National Institutes of Health is updating this plan and has recently called for public comments. MDF weighed in on the plan in writing and in public comments made during the March 17th MDCC meeting in Washington, DC.
To draft the 2015 version of the plan, a working group that included 53 outside experts in various forms of muscular dystrophy was assembled and organized into five working groups:
- Mechanisms of Muscular Dystrophy
- Diagnosis, Screening, and Biomarkers for Muscular Dystrophy
- Preclinical Therapy Development for Muscular Dystrophy
- Clinical Therapy Development for Muscular Dystrophy
- Living with Muscular Dystrophy
Experts in myotonic dystrophy included Dr. Charles Thornton of the University of Rochester, Dr. John Day of Stanford University, and Dr. Laura Ranum of the University of Florida. Dr. Peter Wald, Vice President of Enterprise Medical, represented the myotonic dystrophy community as a public member of the MDCC.
The 2015 Draft Action Plan differs from the original MDCC Action Plan in that it is organized into topics that reach across all of the muscular dystrophies rather than by each type of muscular dystrophy. The plan identified 73 objectives in total. Recommendations that are highly relevant for myotonic dystrophy include the need to focus on gene silencing techniques for therapeutic development, the need to develop guidelines for effective care, and the need to improve social connectedness for people living with muscular dystrophy.
MDF submitted written comments on the Draft Plan that highlighted a number of issues where we thought the Plan could be improved in relation to its treatment of myotonic dystrophy and followed these up with public comments during the MDCC meeting. In particular, we feel that the description of the disease at the very beginning of the plan does not adequately convey that systems in the body other than muscle are almost always affected in myotonic dystrophy. We also suggested that the recommendation to better understand the prevalence of the disease should be expanded to include a survey of the expanded mutation that causes myotonic dystrophy in the general population, since there are likely many people who have the mutation but are not yet diagnosed. We made additional comments about progress in developing biomarkers for myotonic dystrophy (chemical or genetic measurements that may be able to tell us if experimental treatments are working) and the need to better understand approved drugs that may help with the many symptoms of myotonic dystrophy like daytime sleepiness and myotonia. Click here to see the full version of MDF’s written comments.
Dr. Peter Wald, the MDCC member who represents the myotonic dystrophy community, also made comments during the MDCC meeting emphasizing the need to better understand the socioeconomic burden of myotonic dystrophy, the prevalence of the disease in the population including those not yet diagnosed, the impact of an adult onset disease, and the need for clinical trial preparedness and more support groups. Dr. Woodie Kessel, MDF Board member and Assistant Surgeon General (ret.) also attended the meeting and offered MDF comments.
A final version of the Action Plan will be released later this Spring.