Monday, September 17, 2018


Meeting Agenda

2:00 - 2:10

Welcome and introductions

Walter Koroshetz, MDCC Chair

2:10 - 2:15

Conflict of interest policies and general meeting information

Glen Nuckolls, MDCC Executive Secretary

2:15 - 2:45

Meeting Reports by MDCC Member Organizations

2018 FSHD International Research Congress and FSHD Patient Connect Dan Perez, FSH Society

2018 PPMD Annual Conference, Drug Development Roundtable and PFDD Compass meetings Ryan Fischer, Parent Project Muscular Dystrophy

2:45 - 3:15

NIH Updates

2018 Wellstone Centers Grants Thomas Cheever, National Institute of Arthritis and Musculoskeletal and Skin Diseases

Analysis of 2017 Research Support by MDCC Member Organizations Emily Carifi, National Institute of Neurological Disorders and Stroke (NINDS)

3:15 - 4:55

Panel Discussion

Strategies to Accelerate Accurate Genetic Diagnosis of Pediatric and Adult Muscular Dystrophies

Discussion Introduction Glen Nuckolls, NINDS

Panel Members: Reghan Foley, NINDS Laurie Gutmann, University of Iowa Gordon Smith, Virginia Commonwealth University Natalie Street, Centers for Disease Control and Prevention

4:55 - 5:00

Closing Remarks

Walter Koroshetz, NINDS

5:00 Adjourn

Meeting Summary


The Muscular Dystrophy Coordinating Committee (MDCC) met on September 17, 2018, via webinar/teleconference.  As Chair of the Committee, Walter Koroshetz, M.D., Director of the National Institute of Neurological Disorders and Stroke (NINDS), led the meeting with Glen Nuckolls, Ph.D., MDCC Executive Secretary.  The entire meeting was held in open session in accordance with Public Law 92-463.

Welcome and introductions

Dr. Koroshetz welcomed the committee and thanked participants on the phone/online and in room.

Dr. Koroshetz summarized historic and FY2019 NIH appropriations and recent NIH leadership changes. He described the ongoing evaluation of the NIH-funded Senator Paul Wellstone Muscular Dystrophy Research Centers and thanked those who are participating.

Dr Nuckolls provided an update on a topic discussed during the November 2016 MDCC meeting, best practices in pediatric clinical trials.  During that meeting, the committee discussed the need for a standard operating procedure for the processing and handling of muscle biopsies taken from participants in clinical trials and other studies to assure data quality and to maximize the use of the specimens.  There are now two videos available online: a YouTube video ( produced by Eric Hoffman with support from the NICHD Network on Research in Pediatric Developmental Pharmacology and a video published in the Journal of Visualized Experiments (  by Michael Lawlor and colleagues, with support from CureCMD, AFM and grants from NIAMS.  MDCC member organizations should promote the use of these standardized procedures so that all biopsies provide quality data that benefits the patient community.

Meeting updates

Mr. Dan Perez, FSH society, summarized two connected meetings, 2018 FSHD International Research Congress and 2018 FSHD Patient Connect.  2018 FSHD International Research Congress was a two day meeting with platform and poster sessions, that also included  a strategic planning session to identify and troubleshoot bottlenecks and define the research/clinical priorities for the next year (2018/2019). The current/new priority areas for FSHD include specific objectives in the categories of Therapeutics, Pathophysiology, Molecular Mechanisms, and Genetics and Epigenetics. 2018 FSHD Patient Connect was also a two-day meeting where 400 patients, family members, researchers, physicians, and health experts came together for intensive learning and community activism.

Mr. Ryan Fischer, Parent Project Muscular Dystrophy (PPMD), summarized several conferences organized by PPMD during the past year. The Duchenne Patient-Focused Compass Meeting was held in Washington D.C. to promote communication about policy, care, and clinical trial priorities among the DMD patient community including the PPMD Community Advisory Board members and representatives from Federal agencies.  It was attended by about 400 members of the DMD community. The 2018 PPMD Annual Conference was held in Scottsdale, AZ and had over 600 participants, from all stakeholder categories.  This meeting included a Transition Track for Duchenne/Becker teens and adults to discuss issues (financial, legal, social, etc.) related to the transition to independence.  The conference also included a drug development roundtable meeting of companies and advocacy groups to discuss clinical trial harmonization, platform studies in DMD and patient preferences for gene therapy trials.

NIH funding for the muscular dystrophies

Dr. Tom Cheever, NIAMS, gave an update about recent awards for three Senator Paul D. Wellstone Muscular Dystrophy Research Centers. The centers, conduct basic, translational, and clinical research on various forms of muscular dystrophies. Awards have been made to the centers at 1) University of Massachusetts  led by Dr. Charles Emerson for Identification of disease modifiers and therapeutic development for FSHD, funded by NICHD, 2) the University of Rochester, led by Dr. Charles Thornton on DM pathophysiology, therapy development, and trial readiness, funded by NINDS and NHLBI and to 3) the (Award in Preparation) University of Washington led by Dr. Jeffrey Chamberlain on gene therapy for DMD and FSHD; MRI biomarkers for FSHD funded by NIAMS.

Dr. Emily Carifi, NINDS presented an analysis of funding by MDCC member organizations in for 2015-2017 relative to topics of the 2015 Action Plan for the Muscular Dystrophies.  She thanked the agencies and patient organizations for providing the data that were used in the analysis and which are available on the MDCC website.  Overall, 2017 funding across the Action Plan areas was approximately $119M, a steady increase from 2015.  Dr. Carifi gave an overview of how the data are coded, noting that disease and activity categories are coded “yes/no”, which allows for a count of the number of grants in that category.  Action Plan topics are coded by percentage, which allows for calculation of estimated level of funding for each topic.  The top two categories of grants are “Understanding Causes” and “Therapy Development”.  Private organizations and federal sources support a comparable number of awards, but the average dollar amount is higher for awards from federal funding organizations.  The MDCC plans to continue to collect this funding information from member organizations and make it available to the public and use the data to monitor the status of the muscular dystrophy workforce and progress in the field.  There was a discussion of whether it is possible to track industry participation in the muscular dystrophies, although this may be beyond the scope of the MDCC.

Strategies to Accelerate Accurate Genetic Diagnosis of Pediatric and Adult Muscular Dystrophies

Dr. Nuckolls introduced the panel discussion.  He noted that the delay to diagnosis can be quite long for the dystrophies, with some adult forms taking upwards of a decade to correctly diagnose.  Shortening this delay was identified as an important goal in both the 2005 and 2015 Action Plans.  Various factors may contribute to the delay in diagnosis, depending on the type of dystrophy. For example, congenital muscular dystrophy patients have complex phenotypes with many associated genes and diagnosis requires a high level of neuromuscular genetics expertise. Newborn screening for Duchenne muscular dystrophy is not yet in wide use but serum creatine kinase testing may narrow the possibilities to just a few genes that can be tested individually. Adult myotonic dystrophy patients may be difficult to identify, and their diagnoses requires neuromuscular expertise and a careful physical exam and family history.

Each panel member was able to provide a unique perspective on why the delay occurs and offered some recommendations on how to shorten the time to diagnosis.

Dr. Laurie Gutmann, Clinical Professor of Neurology at the University of Iowa and Vice Chair of the Education Committee at the American Academy of Neurology, highlighted the burden of delayed diagnosis on patients, families, and healthcare systems.  She gave examples of additional tests, unnecessary surgery, and inappropriate treatment strategies that can result from delayed diagnosis or misdiagnosis of muscular dystrophies.  She also noted that there is a potential to improve care with an earlier diagnosis and that for pediatric forms of dystrophy earlier diagnosis can impact family planning. She emphasized that a comprehensive clinical history of the patient and family and a detailed neuromuscular examination of the patient is needed to get to an accurate diagnosis, especially when the patient presents with nontraditional symptoms.  For adult muscular dystrophies, a newly diagnosed patient may have undiagnosed family members.  A resource that is successfully used at the University of Iowa is a letter for the newly diagnosed patient to send to family members to encourage them to seek their own diagnoses if they experience similar symptoms.  

Dr. Reghan Foley, Staff Clinician NINDS Division of Intramural Research, is a pediatric neurologist and an expert on genetic diagnosis of rare forms of congenital muscular dystrophy and other neuromuscular conditions.  Her patients are often referred to the NINDS after a long diagnostic journey. Dr. Foley described a program in the UK that facilitates frequent communication among neurologists to discuss and receive advice from experts in the field on more complicated cases, which often speeds diagnosis.  She recommended greater communication among physicians and neuromuscular disease experts.  She also agreed that strong clinical data is needed and helpful particularly when dealing with rare genetic forms of disease.  These histories help build the clinical framework that may aide in diagnosis in future patients. Dr. Foley has also noticed that patient and parental self-education, self-advocacy, and social media use is rising and can shorten delay if used correctly.

Ms. Natalie Street, Health Scientist, Division of Human Development and Disability, Rare Disorders and Health Outcomes Team, CDC, summarized work the CDC has done in collaboration with PPMD and the American Academy of Pediatrics to develop and publicize resources to aid in the diagnosis of conditions associated with motor delay including Duchenne muscular dystrophy.   CDC has put into place several online tools for clinicians (childmuscleweakness and PediaLink course) and parents (healthychildren) to increase the knowledge about physical developmental delay due to  muscular dystrophies and other conditions in children.   The committee discussed ways to measure the impact of these programs on the problem of delayed diagnosis, and whether similar resources are needed that would focus on weakness and adult muscular dystrophies.

Dr. Gordon Smith, Chair of Neurology at Virginia Commonwealth University and Chair of the education committee at the American Academy of Neurology, noted that a process map is needed to design strategies to address the problem of delayed diagnosis for the muscular dystrophies.  He noted that the shortage of neurologists and limited access to specially care is contributing to the problem.  For example, the neurology clinic at the University of Utah is the referral site for ten percent of US land massDr. Smith noted that there are some collaborative resources presently available (ProjectECHO and RRNMF) that could be expanded or modified to encompass other disease types. The AAN has done public relations and information campaigns for primary care or general neurologist for other conditions and Dr. Smith was curious if a similar campaign is needed for the muscular dystrophies. Public awareness campaigns for stroke may offer good examples. 

During the discussion, several people noted that there are both existing and older resources for genetic testing and diagnostic information for the muscular dystrophies: including ALDA from Jain foundation, childmuscleweakness and healthychildren from CDC and PPMD, and LGMD genetic testing from MDA. MDA, JAIN foundation, and other groups have offered free or subsidized genetic testing for patients in the past.  Dr. Riley noted that HRSA will be putting out education information soon to help physicians understand and inform patients and families about complicated genetic results.


Dr. Koroshetz emphasized that the delays in diagnosis are unacceptable, especially considering that time -sensitive treatments are in the pipeline.  He acknowledged the complexities of diagnosis and commended the patient communities for promoting available resources. He thanked the committee and invited speakers for their contributions to the topic and discussion.

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