The Muscular Dystrophy Coordinating Committee (MDCC) had its 10th meeting on August 26, 2013 at the National Institutes of Health offices in Bethesda, MD. The members of the MDCC come from federal agencies involved in one or more muscular dystrophy programs as well as public representatives from several organizations representing one or more forms of muscular dystrophy. There are representatives from the National Institutes of Health (NINDS, NIAMS, NICHD and NHLBI), Centers for Disease Control and Prevention, Food and Drug Administration and Departments of Education and Defense. Advocacy organizations include Parent Project Muscular Dystrophy, the Muscular Dystrophy Association and other muscular dystrophy organizations.
The MDCC was mandated by the MD-CARE Act of 2001 and reauthorized in 2008. The law authorizing the Act expires in 2013. Continuation of this committee and programs funded under the MD-CARE Act will require reauthorization by Congress and sent to the President to be signed into law. The Act also funds the Paul D. Wellstone Muscular Dystrophy Centers of Excellence focused on muscular dystrophy research as well as muscular dystrophy research and educational efforts being conducted at the CDC.
PPMD is leading the effort for reauthorization with the Muscular Dystrophy Association and the Foundation to Eradicate Duchenne. PPMD’s Congressional Champions, including Senate reauthorization sponsor Senator Amy Klobuchar, MN and long time supporters Senators Roger Wicker, MS and Susan Collins, ME and House sponsor Representative sponsor Michael Burgess, TX, are circulating letters for Member support. As a constituent, your help is needed to contact your US Senators and US Representative asking them to support reauthorization. This can be done with a brief phone call or by e-mail. To learn more, please go to: http://community.parentprojectmd.org/profiles/blogs/the-md-care-act-update-on-reauthorization-efforts
I participate on the MDCC as the PPMD and the DMD community representative. The agenda for the meeting was quite full with members reporting on their activities as well as collaborations and future plans. Alan Guttmacher, MDCC Chair, NICHD, moderated the meeting allowing members twenty minutes to speak due to the full schedule. John Porter, NINDS, opened the meeting and provided an overview of NIH research related to the muscular dystrophies. He was followed by Glenn Nuckolls who spoke about muscular dystrophy activities at Paul D. Wellstone MD Centers of Excellence. Tiina Urv, NINDS, talked about plans to develop a newborn screening program (NBS) for DMD. Jonathan Kaltman, NHLBI, provided an overview of muscular dystrophy heart research and Marielena McGuire described muscular dystrophy research funded by the Department of Defense.
The previous discussions were ideally placed leading to my presentation. I spoke about opinions expressed to me concerning newborn screening programs based on interviews I conducted with parents whose sons were diagnosed in a NBS pilot study, a recent visit to the Jackson Laboratory and Cardiac Issues for DMD.
I reported on my interviews explaining my goal was to better understand the impact of NBS on families. I learned that systems of support are typically well established and centered around the child, yet the parents I spoke with expressed support available to them was less robust. These parents also described concerns about medical professionals speaking too advanced about DMD at diagnosis and the relationship with NBS to current therapies and potential novel treatments. I did not suggest changes or offer conclusions based on these interviews as I plan to continue working on this issue. I want to be part of a thoughtful discussion of NBS which began with the MD CARE Act investment and advancements in research leading to therapies for DMD. I urged participants to consider the impact of diagnosis on families and in designing a NBS program that more thoroughly considered the whole family at that time and beyond. During the Q&A ‘working lunch’, there was considerable discussion among committee members about the points I made concerning NBS.
I told the committee about my recent meeting with the researchers at Jackson Laboratory who are involved in a federally funded Mouse Repository for DMD. This repository collects mouse models for DMD and the scientists are developing new strains that better exhibit the condition as compared to patients. I was told they are also developing other models that may help predict what to expect from exon skipping drugs that are designed for individuals with more rare mutations. These mice would be bred with the form of dystrophin protein that the drug produces allowing the researchers to study efficacy.
My final topic concerned cardiac health in DMD. I explained that new therapies under development for DMD appear to be less effective on heart health and pointed out the CDC Care Considerations for DMD suggests further research is needed for specific treatment recommendations. I spoke briefly about my 20 year old son Matthew’s death six months earlier and the loss of Mitchell Jones who was only 10. Their loss highlighted the need for a better understanding of managing care and treatment options including implanted devices as well as transplantation. I asked the leadership of the NHLBI to consider funding such programs telling them how much this is needed for patients living with DMD.
Anne Pariser talked about the FDA’s program for drug development focusing on those related to Rare Disease and the supports provided. She was followed by Valerie Cwik from the MDA. Valerie’s presentation outlined MDA funding for the muscular dystrophies and their clinic program. She also talked about the Transition Program which they are developing and collaborations with other organizations including PPMD in developing information to help individuals as they moved from pediatric to adult programs.
Theresa San Agustin from the Department of Education described funding opportunities for neuromuscular programs with that agency. She was followed by Anne Rutkowski of CURE CMD who talked about efforts for the Congenital muscular dystrophies. Mark Swanson spoke about CDC programs primarily focused on DMD including the Child Muscle Weakness lead by PPMD designed to help medical professionals determine whether children needed to see a specialist for delays in motor development to reduce the time for diagnosis of conditions such as DMD. He also talked about continued work on the MD STARnet being conducted to learn more about the prevalence of DMD and aspects of care on patient health. Peter Wald spoke next for the Myotonic Dystrophy Foundation.
Annie Kennedy, Senior VP, Advocacy, from the MDA was invited to the MDCC and presented on the MDA transition program for people with muscular dystrophy becoming adults. Recent advances in care have led to more individuals who have muscular dystrophy surviving to adulthood and she pointed out that few support programs are in place to assist them. Annie spoke about the lack of opportunity for employment in large part due to the potential for individuals to lose coverage for personal care attendants and state health benefits. She described how patients desired an opportunity to work, but had a valid fear for the loss in coverage. Annie mentioned continuing efforts in this area including programs in which the MDA and PPMD are collaborating.
The last speaker was Holly Peay, PPMD’s Vice President, Outreach and Education. Holly was invited to discuss work she is leading concerning family expectations and experiences for pediatric clinical trials for neuromuscular disorders. She reviewed Therapeutic Misunderstanding and other aspects of patient, family and clinician misconceptions in clinical trials and how these issues might be addressed. She also spoke about work to understand parental motivations, resistance and impediments to participation in clinical trials for DMD. Holly’s discussion fueled much discussion with the committee as many are involved in some aspect of research and desire to know more or had suggestions for her work.
Several members of the public spoke during the comment section of the meeting. They voiced support and concerns to the committee related to the muscular dystrophies affected them or members of their families.
John Porter, NINDS and NIH Heather Rieff, NINDS shared the final topic on the agenda. They spoke about the plan to review and update the MDCC Action Plan. The current Plan was designed to guide the committee, individually and collaboratively, in muscular dystrophy related activities. Dr. Porter emphasized this wasn’t an NIH plan, yet a plan for all members of the committee. He asked the group to begin thinking of participants for the working groups that will do much of the work to review the current 75 point action plan to determine relevance, completeness and areas that need to be addressed. Once the working groups complete their work the MDCC will reconvene for input and following an opportunity for public input, vote on accepting an update Action Plan. The goal is to complete this work in late 2014.
The MDCC meeting is an important tool for all involved in muscular dystrophy efforts helping members to understand work being done, opportunities for collaboration as well as efforts to avoid duplication and unnecessary work. I am honored to participate in this committee and am providing this report as an effort to share the MDCC’s work with the DMD community.