March 20, 2019

Conference Room C/D
6001 Executive Blvd
Bethesda MD 20892

Meeting Agenda


Meeting opening

Glen Nuckolls, National Institute of Neurological Disorders and Stroke (NINDS)/NIH

8:45 Remembrance of Stephen I. Katz, former MDCC Chair and Director of National Institute of Arthritis and Musculoskeletal and Skin Diseases
9:15 MDCC Chair’s presentation Walter Koroshetz, NINDS Director
9:30 Updates from OSERS – Rethinking Education Office of Special Education and Rehabilitative Services Johnny Collett, Assistant Secretary, U.S. Department of Education
10:00 International Rare Diseases Research Consortium (IRDiRC) Chris Austin, IRDiRC Chair Director of National Center for Advancing Translational Sciences (NCATS)/NIH
10:30 Break (10 min)
10:40 Wellstone Centers Program Evaluation Report Heather Rieff, Office of Scientific Program and Policy Analysis National Institute of Diabetes, Digestive and Kidney Diseases/NIH

New Member Presentations Coalition to Cure Calpain 3: A patient organization committed to treating and ultimately curing limb girdle muscular dystrophy type 2A Jennifer Levy, Coalition to Cure Calpain 3

Myotonic Dystrophy Foundation: One Perspective on Driving Therapy Development John Porter, Myotonic Dystrophy Foundation

SSA Disability and Evaluating Neurological Impairments Alayna Ness, Social Security Administration

(Presentation title TBD) Marielena McGuire, Department of Defense

11:55 Meeting Report (Presentation title TBD)
12:10 Lunch
12:45 National Organization for Rare Disorders (NORD) Vanessa Boulanger, NORD

Best Practices for Patient Registries

(Presentation title TBD) Melanie Blank, Medical Officer, Rare Disease Team, CDER, FDA

Rare Diseases Registry Program (RaDaR) Jeanine D’Armiento, Columbia University

CF Registry: rare disease data collection and data uses Alexander Elbert, Cystic Fibrosis Foundation

National Registry for Myotonic Dystrophy and Facioscapulohumeral Dystrophy Rabi Tawil, Univ Rochester, National Registry for DM and FSHD



(Presentation title TBD) Grace Pavlath, Muscular Dystrophy Association

The Duchenne Registry and Duchenne Outcomes Research Interchange (Interchange) Ryan Fischer, Parent Project Muscular Dystrophy

3:45 Discussion of registry best practices
4:20 Closing remarks Walter Koroshetz
4:30 Adjourn

Meeting Summary
Muscular Dystrophy Coordinating Committee
March 20, 2019

The Muscular Dystrophy Coordinating committee (MDCC) met on March 20, 2019, in Bethesda MD. As Chair of the Committee, Walter Koroshetz, M.D., Director of the National Institute of Neurological Disorders and Stroke (NINDS), led the meeting together 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. Nuckolls welcomed participants and noted since that the confirmation of the new members is ongoing, several participants are attending this meeting as Ad Hoc members.

Remembrance of Dr. Stephen I. Katz, former MDCC Chair and Director of National Institute of Arthritis and Musculoskeletal and Skin Diseases

The committee honored and thanked Dr. Stephen Katz, who passed late last year, for his service and commitment to the muscular dystrophies.  Dr. Robert Carter, Acting Director of NIAMS, commended Dr. Katz’s leadership, commitment to the scientific endeavor and willingness and ability to mentor, and. Dr. Nuckolls, Dr. Koroshetz, and Ms. Annie Kennedy (PPMD) and Dr. Porter commented on Dr. Katz’s leadership and commitment to the muscular dystrophies.  His voice and presence are and will be missed by the MDCC.

Dr. Koroshetz gave an overview of the NIH’s funding by institute and by dystrophy subtype within the NIH muscular dystrophy (MD) portfolio. He noted that the involvement of industry in the muscular dystrophies continues to increase, and NIH supported studies have provided the foundations for many of the candidate therapeutics currently in clinical trials.     The NIH supports studies of the causes of muscular dystrophies and research to develop treatments. Dr. Koroshetz highlighted several basic scientific advances in the muscular dystrophy field.

Assistant Secretary Johnny Collett, Office of Special Education and Rehabilitative Services (OSERS), U.S. Department of Education gave an overview of the resources and services available through OSERS for those in the muscular dystrophy community.  OSERS recently released an enhanced framework for achieving the mission of the office. He emphasized the focus on the individual and noted that the system must accommodate the individual’s unique and changing needs.  He highlighted a recently announced initiative to address the inappropriate use of restraint and seclusion to protect children with disabilities and  a privately funded scholarship program based on Federal tax credits called the Education Freedom Scholarships.  He expressed a willingness and desire to meet with interested parties to continue to serve the muscular dystrophy communities’ needs in early life centered on education and career development.

Dr. Chris Austin, Director of National Center for Advancing Translational Sciences (NCATS)/NIH and former Chair of International Rare Diseases Research Consortium (IRDiRC), gave an overview of IRDiRC, which involves funders, companies, and umbrella patient advocacy organizations – a total of 56 organizations from 20 countries.  Dr. Austin described the structure, policies, and resources available through IRDiRC. The goals for this organization for 2017-2027 are 1) diagnosis for all individuals with rare diseases within one year of seeking medical attention if disease is known and enrollment in a globally coordinated research pipeline if undiagnosed; 2) approval of 1000 new therapies for rare diseases; and 3) development of methodologies to assess the impact of diagnoses and therapies.  Dr. Austin promoted the sharing of knowledge, data, expertise and viewpoints as the key to success in achieving these goals.

Dr. Heather Rieff, Office of Scientific Program and Policy Analysis, National Institute of Diabetes, Digestive and Kidney Diseases/NIH, reported on the recent evaluation of the Paul D. Wellstone Muscular Dystrophy Research Centers program. The MD-CARE Act of 2001 (Public Law 107-84) called for Centers of Excellence for research on muscular dystrophies.  Over the 15 years of the program there have been 11 distinct investigator teams covering the breadth of basic, translational and clinical research in the muscular dystrophies, with the steady state of 6 concurrent centers.  The centers are funded by NIAMS, NINDS, NICHD, and NHLBI. The objective of the evaluation was not to assess individual centers, but to consider the strengths and weaknesses of the overall program and consider strategies to enhance their impact.    The Evaluation Working Group, composed of experts in muscle disease research from outside the NIH, recommended that the program be continued with some enhancements in research topics and investigator teams, improved communication among the centers and with the muscular dystrophy research community, increased sharing of research resources and training opportunities.  The executive summary of the report is available at


New Member Presentations:

Dr. Jenn Levy, Scientific Director of Coalition to Cure Calpain 3, introduced C3 and its goals.  C3 is dedicated exclusively to limb girdle muscular dystrophy type 2a (LGMD2A) caused by mutations in calpain 3. LGMD2a is the most common of the limb girdle muscular dystrophies with an estimated 4,800 patients in the US. C3 has issued 12 research grants to date, covering areas including discovery, repurposing existing therapies, gene therapy, and clinical trial readiness.  They also administer a patient registry with nearly a thousand registered patients worldwide.  They conduct focused global meetings to link researchers, clinicians, pharma/biotech companies and patients with a goal to increase LGMD2A understanding and progress to a cure. C3 also provides conference travel grants to early career investigators.

Dr. John Porter, Myotonic Dystrophy Foundation, gave an overview of Myotonic Dystrophy and the Foundation.  Myotonic dystrophy (DM1, DM2 and congenital DM) are forms of muscular dystrophy that affect the skeletal muscles, heart, brain and other organ systems. They are caused by inherited expanded repeat sequences in the DMPK (for DM1 and congenital) or CNBP/ZNF9 gene (for DM2). MDF supports research on myotonic dystrophy from supporting discovery research and therapy development and supports patients through advocacy, resource development, and partnering with industry. The MDF has published consensus-based care recommendations for adults with DM1 ( ).

Ms. Alaya Ness, Social Security Association, summarized how muscular dystrophy patients could receive Social Security disability insurance (SSDI) and/or Supplemental Security Income (SSI).  SSDI is based on work history and is paid through FICA taxes, while SSI is based on need and funded through the general fund.  She described the statutory eligibility for SSDI for adult and pediatric muscular dystrophy patients and described how services could be requested.  She also described how conditions are selected for the Social Security Compassionate Allowances List (

Dr. Marielena McGuire, Congressionally Directed Medical Research Programs (CDMRP), Department of Defense, explained the CDMRP process at DoD.  The funds for the awards are appropriated yearly by Congress and directed to the 30 different programs.  They use a two-tier review process to determine funding plans, similar to the NIH. The Duchenne program began in 2011 and has funded 29 awards as of 2018. NIH staff participate in the advisory committee for the Duchenne program and data sharing through the MDCC helps to monitor for potential overlap in CDMRP and NIH grants.  Also, of potential interest to the MDCC are four areas in the peer reviewed medical research program: Cardiomyopathy, Congenital Heart Disease, Musculoskeletal Disorders, Myotonic Dystrophy.

Meeting Update

Mr. Dan Perez, FSH Society, introduced the FSHD International Research Congress that FSH will hold in Marseilles, France.  They anticipate 150-200 attendees including clinicians, medical researchers, industry, government and basic scientists with the goals to accelerate research, increase collaboration and reach clinical trial preparedness.  Dr. John Porter then gave an overview of the FSH Society Industry Collaborative for Therapy Development meeting held in early March.  The collaborative brought together various stakeholders to discuss the present state and the future of therapy development in FSHD. 

Patient Registries

Ms. Vanessa Boulanger, Director of research, National Organization for Rare Diseases, gave an overview of the IAMRARE registry and Patient centered research program. She noted that NORD has 4 pillars, Policy and Advocacy, Patient Services, Education, and Research.  The IAMRARE registry program launched in 2014 after a multiyear, multi-stakeholder planning process.  NORD provides training, user guides, custom survey support, templates for consent and marketing, IRB partnership etc.  The IAMRARE program has worked with the FDA to create and launch a platform that is accessible to the rare disease populations and allows high quality data collection.  Recently NORD has created partnership-based models that give patient groups more flexibility and access to NORD’s resources.

Dr. Nuckolls introduced the afternoon session on best practices on registries.  He noted that there are different kinds of registries with data entered by patients, clinicians or researchers or data acquired by wearable devices.  These sources also impact the kinds of data that are collected and how the data can then be used later. Registries must evolve based on the needs of the field.  To stimulate further thought and discussion, he posed questions about best practices, lessons learned, and how to improve registries. He highlighted some resources that the NIH has including Common Data elements.

Dr. Melanie Blank, FDA, defined the term registry as a platform for collecting patient data. She explained that there are different types of registries that are defined by their purpose. A contact registry that includes patient contact information is often used to alert patients and caregivers about clinical trials or provide patients with clinical updates. A drug/product registry is used to follow safety and efficacy related to a product. A disease outcomes registry is a collection of data that tracks the progress of patients throughout their disease course. A natural history study registry is a subset of an outcomes registry that is designed to inform the design and conduct of a clinical trial and drug development program. Dr. Blank emphasized that an understanding of a disease’s natural history is a key factor for ensuring a successful drug development program. If well conducted, a high-quality outcomes or natural history registry can also be fit for use as an external control arm in a single-arm clinical trial or function as part of a hybrid control [comparator group includes some external (registry) patient data and some randomized placebo-treated patient data] to reduce the numbers of patients randomized to placebo without reducing the power of the trial. Ideal qualities of such a registry are 1) prospectively collected data (although retrospectively collected data may be appropriate in certain circumstances) 2) availability of source data and audit trail, if available, to ensure accuracy, and non-missingness of data,  3)  comparable population to  the population that will be studied in a drug trial, and 4)  standardized  assessments that replicate what and how assessments will be collected in the subsequent or concomitant clinical trials. She gave examples of cases where well-designed outcomes registries have successfully been used in single arm clinical trials for rare disorders to identify biomarkers and support drug approvals, including accelerated approvals.  She strongly encouraged any patient group interested in creating a registry to invest in creating a prospectively-designed, hypothesis-driven outcomes registry, consider data ownership and informed consent issues regarding how data will be owned and used, use social media, information sharing and other incentives to recruit and retain patients and to reduce missing data, and have an audit trail to ensure quality. Dr. Blank also stated that starting with a contact registry is also reasonable if funds are not available. If used to support an NDA/BLA, it is highly recommended to submit registry data as well.

Dr. Jeanine D’Armiento, Columbia University, introduced the NCATS Rare Disease Registry Program (RaDaR).  This program is designed to be a resource for new groups to establish well designed registries using best practices to ensure that these registries serve the patient and research communities well.  She emphasized the implementation of FAIR standards (data should be findable, accessible, interoperable, and reproducible).  She recommended the use of NIH created common data elements (CDEs) to standardize the data and the use of global unique identifiers (GUIDS) to prevent repetitive entries.

Mr. Alex Elbert, Cystic Fibrosis Foundation, gave an overview of the creation and maintenance of the Cystic Fibrosis Foundation’s registry from its creation in the 1970s to present day.  It holds comprehensive clinician entered data and covers 90% of the US patient population.  He noted that it had been very important to demonstrate value to the clinician and this effort has led to clinical staff to enter appropriate data to the registry. The CF registry is used for selecting patients for clinical trials, international comparisons, data searches and assists clinicians by maintaining full patient history from diagnosis to the present. 

Dr. Rabi Tawil, University of Rochester introduced their registry for the Myotonic Dystrophy and FSHD patients and family members at the University of Rochester. They collect participant-reported demographics, diagnostic information, medical history, and disease manifestations.  Registry members have participated in over 50 studies ranging from surveys to clinical trials, resulting in 42 publications.  About 60% of the members of this registry have a genetically confirmed disease diagnosis and Dr Tawil described plans to increase that percentage.

Dr. Grace Pavlath, MDA, announced an enhanced platform for registries at the MDA, the MOVR datahub (neuroMuscular ObserVational Research).  This datahub includes clinician entered medical and genetic data through the MDA’s network of Care Centers and will soon include additional genomic data and patient entered data.  Designed as a unified national patient data hub for neuromuscular diseases, it currently covers amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Duchenne (DMD) and Becker (BMD) muscular dystrophy. 

Mr. Ryan Fischer, PPMD, also announced a platform change to their existing patient registry and new program (the Duchenne interchange) that will aggregate patient entered, clinician entered, and EHR extracted data.  They have entered into partnerships with Sarepta, Thread, CureSMA and Prometheus to enhance their ability to serve the Duchenne patient communities through platform technology development.  Participants will be able to provide informed consent through a smartphone app and will have control over where and when their data moves for research purposes. 

Dr. Berry, Sarepta, discussed their recent efforts to work with PPMD to create a post market registry for patients receiving Exondys51.  She noted that there is need for clinically significant data presently for treated patients and they anticipate future needs as more treatments are approved.

Dr. Koroshetz summarized the day’s discussions, noting that increases in technological solutions could enrich patient registries. He encouraged continued interaction between stakeholders to improve the lives of those living with muscular dystrophy. 

We certify that, to the best of our knowledge, the foregoing minutes are accurate and complete.

Glen Nuckolls, PhD
Designated Federal Official
Muscular Dystrophy Coordinating Committee
Program Director, Division of Neuroscience, National Institute of Neurological Disorders and Stroke
Walter Koroshetz, MD
Chair Muscular Dystrophy Coordinating Committee
Director, National Institute of Neurological Disorders and Stroke
These minutes have been approved by the committee by email concurrence.

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