Established by the MD CARE Act in 2001, the Muscular Dystrophy Coordinating Committee (MDCC) is a federal advisory committee composed of representatives from major government agencies relevant to muscular dystrophy and a selection of “public” members representing patients and disease advocacy associations. The Committee is required by the MD CARE Act to meet at least two times a year and to develop and keep updated a “Muscular Dystrophy Action Plan” that outlines priorities for research in muscular dystrophy. The Plan, originally developed in 2004, is meant to serve as a blueprint for both government agency activities and those of other community members such as advocacy organizations.The MDCC met most recently on November 13 in Washington D.C. to discuss revisions to the latest version of the Action Plan. The 2015 Plan, which is broken into six topical sections across all the muscular dystrophies, was generated by around 50 experts in the field and underwent a public comment period in Spring of 2015. The major sections include:
- Mechanisms of muscular dystrophy;
- Diagnosis, screening and biomarkers for muscular dystrophy;
- Preclinical therapy development for the muscular dystrophies;
- Clinical therapy development for the muscular dystrophies;
- Living with muscular dystrophy; and
- Infrastructure for the muscular dystrophies
MDF reviewed the draft plan and provided comments to then MDCC Chair Dr. Alan Guttmacher of the National Institute of Child Health and Human Development (NICHD) on the content relevant to myotonic dystrophy. Comments from the Foundation included the following:
“In general we agree with the emphasis on the development of natural history data, endpoints and biomarkers for all of the muscular dystrophies and on the need for better incidence, prevalence and burden of disease data. We appreciate the recognition that there is a need to evaluate the safety and efficacy of gene silencing as a therapeutic avenue, and the recognition that “emerging treatments that address the molecular defects in DM have the potential to change manifestations of this multi-system disease at multiple levels and will have to be understood and subsequently accounted for in the care guidelines."
"In addition, we endorse recommendations on the need for practice parameters or care guidelines, and we strongly support all of the recommendations under “Lifestyle, Education and Employment Issues”, including the identification of strategies to include patient integration into educational and employment systems, and addressing mental health needs and opportunities for improving social connectedness throughout the life-span of individuals and their family members.”
In addition, we noted concerns with the original 2015 draft, including an incomplete description of the symptoms of the disease, a lack of recognition of the need for a population-based understanding of the prevalence of myotonic dystrophy, the need to emphasize that some mis-splicing events in myotonic dystrophy have been correlated with symptoms of the disease, the need to evaluate drugs for myotonia, daytime sleepiness and gastrointestinal symptoms in the section on evaluating available drugs, and the need to consider mapping data to CDISC standards in the sections that encourage standardization of data.
At the November 13th meeting, strategies for monitoring community-wide progress on achieving the aims of the 2015 Action Plan were discussed. These included collecting and analyzing information from MDCC member organizations and establishing and maintaining a list of external grants, contracts and other project support. The information gathered would be coded and presented once a year on the MDCC website under the five major priority areas of the 2015 Action Plan.
How It Affects You
Citing recommendations from the 2015 Muscular Dystrophy Action Plan in your NIH grant application may help remind reviewers and NIH staffers that what you are proposing is considered a priority by over 50 experts in the field.