Monday, June 19, 2017

Neuroscience Center, Conference Room C/D
6001 Executive Blvd.
Bethesda, Maryland 20892

Meeting Agenda


Welcome and introductions

Stephen I. Katz, MDCC Chair and Director National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH


Conflict of interest policies and general meeting information

Glen Nuckolls, MDCC Executive Secretary and Program Director National Institute of Neurological Disorders and Stroke (NINDS), NIH


NICHD and Muscular Dystrophy Research

Diana Bianchi, Director Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH


Meeting Reports 

2017 Muscular Dystrophy Association Scientific Conference

Lianna Orlando, Muscular Dystrophy Association Meeting on Unique Burdens of Pediatric Clinical Trials

Ryan Fischer, Parent Project Muscular Dystrophy


10:00  Break

Topic I: Partnerships in Supporting Training and Career Development

Examples of Partnerships for Training and Career Development in Rheumatic Diseases

Marie Mancini, NIAMS Brief presentations on support for students, postdocs and clinical fellows:

Tom Cheever, NIAMS Marielena Mcguire, Congressionally Directed Medical Research Program, Dept. of Defense Lianna Orlando, Muscular Dystrophy Association Brian Denger, Parent Project Muscular Dystrophy Dan Perez, FSH Society Paul Formaker, Myotonic Dystrophy Foundation


Discussion of opportunities for partnerships supporting research training in the muscular dystrophies

MDCC members and meeting attendees

12:15 Lunch

NIH Initiatives for Early and Mid-Stage Investigators

Stephen I. Katz, Director NIAMS


Topic II: Therapeutic and Assistive Devices for the Muscular Dystrophies

Session Introduction

Glen Nuckolls, NINDS Office of Orphan Products Development’s Device Programs for Rare Diseases

Katie Chowdhury, Office or Orphan Products Development, FDA Regulatory Pathways for Devices

Vasum Peiris, Center for Devices and Radiological Health, FDA Cardiovascular Devices: Treatment of Duchenne Cardiomyopathy

Linda Cripe, Nationwide Children’s Hospital, Columbus OH New Technologies in Assistive Devices

Ryan Fischer, Parent Project Muscular Dystrophy


Discussion of gaps and opportunities for devices for the treatment and management of muscular dystrophies

MDCC members and meeting attendees


Closing Remarks

Stephen I. Katz, MDCC Chair

4:30 Adjourn


Meeting Summary

The Muscular Dystrophy Coordinating Committee (MDCC) met on June 19, 2017, in Bethesda, MD.  As Chair of the Committee, Stephen I. Katz, M.D., Ph.D., Director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), 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. Katz welcomed the committee.  He gave a short summary of the November meeting and reviewed the current agenda.  Dr. Katz thanked Dr. Devanand Jillapalli [U.S. Food and Drug Administration (FDA)] for suggesting the topic of Devices in Muscular Dystrophy.

Dr. Nuckolls noted that Ms. Natalie Street [Centers for Disease Control and Prevention (CDC)] and Dr. Catharine Riley [Health Resources and Services Administration (HRSA)] were attending as ad hoc committee members.  The committee is looking for members from the Department of Education and the Centers for Medicare and Medicaid Services (CMS).  Dr. Nuckolls also noted that the nominations for the public members received in response to a Federal Register notice are under review.

Dr. Nuckolls thanked the Committee members for providing data on projects funded in 2016.  The data will be compiled and posted on the MDCC website, and an analysis will be presented at the next meeting. 

New member presentation

“NICHD and Muscular Dystrophy Research”

Dr. Diana Bianchi, Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH

Dr. Bianchi gave a brief overview of the NICHD and its support of research on the muscular dystrophies.  NICHD, through research grant funding and Wellstone Centers’ funding, has a strong portfolio in muscular dystrophy.  It also supports resources such as the Data and Specimen Hub (DASH) and NICHD Genomic Clinical Variant Expert Curation Panels, which may be of interest to the muscular dystrophy research community.

Dr. Bianchi discussed neonatal and prenatal screening for the muscular dystrophies.  The Recommended Uniform Screening Panel (RUSP) is a list of disorders that states are encouraged to screen for as part of their universal newborn screening programs.  The NIH Newborn Screening Translational Research Network (NBSTRN), supported by NICHD, may be a valuable resource to help advance newborn screening for the muscular dystrophies.  Dr. Bianchi’s presentation was followed by a discussion of possible rate limiting steps to getting Duchenne and other dystrophies added to the RUSP, including the need for an approved treatment for neonates.  There was also discussion of the future potential and complexities of using exome/genome sequencing data to screen for pediatric and adult onset conditions.  Dr. Bianchi also described her work on prenatal genomics, which she will continue to pursue in her lab in the National Human Genome Research Institute’s Intramural Research Program.

Meeting updates

Dr. Lianna Orlando, Muscular Dystrophy Association (MDA), gave a summary of 2017 Muscular Dystrophy Association Scientific Conference.  The Scientific Conference is the MDA’s biennial meeting on basic and translational research. It alternates each year with their clinical research meeting.  The meeting attendance this spring was up from previous years.  There were several symposia, which were arranged to break disease silos by aligning talks to thematic distinctions.  Each session was co-chaired by a senior and junior member of the research community.  New this year was a session on “How to Move Forward with Your Drug Idea: Strategies and Resources for Academics,” which addressed translation of laboratory discoveries.

Mr. Ryan Fischer, Parent Project Muscular Dystrophy (PPMD), noted that clinical trial participation presents a burden on patients and families through travel costs, loss of income, time away from schooling, and parenting duties to other siblings. At their recent Meeting on Unique Burdens of Pediatric Clinical Trials, PPMD brought together parents/patients, clinicians, industry experts, ethics experts and psychologists. Stakeholders participated in panel discussions on clinical burdens associated with technical aspects of the protocol, regulatory pathways for getting treatments approved, and ethical concerns related to informed consent.  Discussions highlighted the need for effective communication between trial sponsors and participants.  The meeting organizers are preparing a white paper on best practices that will be relevant to other communities.  During the Committee’s discussion regarding strategies to mitigate issues raised at the PPMD meeting, it was noted that the FSH Society supports patient travel to trials in partnership with the FSHD focused Wellstone Center at the University of Massachusetts.

Topic I: Discussion of training and career development

Dr. Marie Mancini, Program Director, NIAMS Division of Skin and Rheumatic Diseases, gave a talk on Examples of Partnerships for Training and Career Development in Rheumatic Diseases to inform MDCC members about successful strategies in other disease areas. For example, the Rheumatology Research Foundation (RRF) and the American College of Rheumatology (ACR) fund research, career development and bridge grants to junior clinical research investigators. Recent analysis showed that concurrent dual career development awards from NIH and RRF correlate with future success in acquiring independent NIH research funding (R01).  Dr. Mancini presented lessons learned from successful public/private partnerships for supporting career development, including the need for shared goals and effective communication among funders, mentors and trainees.  As another example of strategies to encourage and support clinician-scientists, Dr. Mancini described an annual meeting of NIAMS mentored clinical career development awardees, established investigators/mentors and patient organization representatives.  In the discussion after Dr. Mancini’s presentation, committee members commented on the value of individual career development awards and additional support for junior investigators. 

Dr. Mancini’s talk was followed by six brief presentations from the NIH, Department of Defense (DoD), and four patient organizations. 

Dr. Tom Cheever, NIAMS, briefly summarized the NIH’s training and career development grant mechanisms, which provide opportunities from the pre-doctoral level through newly independent investigators.  Available funding mechanisms and policies vary among the NIH institutes, even among the four institutes that support the majority of NIH-funded muscular dystrophy research.  Potential applicants are strongly encouraged to talk with an NIH program director for additional guidance. (NINDS-Glen Nuckolls, NIAMS-Tom Cheever, NICHD-Danuta Krotoski, NHLBI-Jonathan Kaltman). 

Dr. Marielena McGuire, DoD Congressionally Directed Medical Research Program (CDMRP), noted that DoD also offers a clinically focused mentored career development grant (the Career Development Award (CDA), FY16-17). In addition, the DoD research grant program (Investigator-Initiated Research Award (IIRA), FY11-17) has an optional training component, although this is underused by applicants.

Dr. Lianna Orlando, Muscular Dystrophy Association, highlighted the MDA’s long standing career development grant program. She noted that the most successful applicants are in their 3rd year and about 20 percent of previous awardees have gone on to secure research grants as independent investigators.  MDA has a new initiative, the clinical research training scholarship (CRTS), which is a partnership between the American Academy of Neurology (AAN) and the American Brain Foundation.

Mr. Brian Denger, Parent Project Muscular Dystrophy, noted that PPMD has funded a number of successful fellows through its Weisman Fellow Grant.  Additional fellows are supported by PPMD grants to their mentors.  PPMD also supports independent investigators through the EndDuchenne GAP program, which provides bridge funding to investigators who had submitted an NIH grant application on a translational research project in Duchenne muscular dystrophy but did not meet the NIH funding payline.

Mr. Dan Perez, FSH Society, described his organization’s post-doctoral fellowship program.  The FSH Society funds 2 or 3 post-doctoral fellows per year, with 19 total between 1997 and 2011.  Research is solicited in general areas of interest, which are updated annually based on recommendations from the FSHD research community.  Many leaders in the FSHD field are past recipients of these fellowships.

Mr. Paul Formaker, Myotonic Dystrophy Foundation, described a program that the MDF launched in 2009 that has funded 25 postdoctoral fellows; many have become independent researchers. Beginning in 2017, the MDF will also support pre-doctoral students.

The discussion after these presentations focused on the need to bring qualified researchers, particularly clinically trained junior researchers, into the muscular dystrophy field.  Most career development awards have a salary cap that creates obstacles for candidates and their institutions.  The NIH Loan Repayment Program’s emphasis on clinical and pediatric research should be further promoted as an incentive.  Committee members commented that qualified candidates may not be aware of available funding opportunities.  In other disease research areas, professional organizations help promote NIH career development and publicize funding opportunities.

A brief discussion on incentives included targeted NIH Funding Opportunity Announcements (FOAs) to draw in trainees.  NIH representatives stressed that trainees can utilize existing funding opportunities; it is incumbent on the field to encourage trainees and direct them to appropriate opportunities.  MDCC members suggested that sharing notes from this discussion – both on the MDCC website and through the Wellstone Centers – would be a good first step.

NIH Initiatives for Early and Mid-Stage Investigators 

Dr. Katz summarized a new NIH effort to fund excellent investigators who have not yet had the opportunity to fully establish robust research programs.  Dr. Bianchi reminded the committee that this Next Generation Researchers Initiative will use existing NIH appropriations; it will not have additional funds.

Topic II Therapeutic and Assistive Devices for the Muscular Dystrophies

Four presentations framed the discussion of Therapeutic and Assistive Devices for the Muscular Dystrophies.  In his introduction, Dr. Nuckolls noted that while many discussions focus on biologics and drugs, palliative and assistive devices improve the quality of patients’ lives and can improve survival.  One example is the cough assist device that Dr. Jonathan Finder (University of Pittsburgh) and others have championed for use in Duchenne patients. 

Two speakers from the Food and Drug administration described the definitions of medical devices, the pathways of approval, and funding opportunities available to develop devices. 

Ms. Katie Chowdhury, Office of Orphan Products Development, FDA, gave an overview of funding opportunities directed at children and at people who have rare diseases: the Orphan Products Clinical Trials Grants Program, the Natural History Studies Grants Program (for rare diseases), and the Pediatric Device Consortium Grant Program (which supports the development of nonprofit consortia to advance devices for pediatric patients).  She described how medical devices intended to benefit patients in the treatment or diagnosis of rare diseases can be eligible for a Humanitarian Use Device (HUD) designation and subsequent Humanitarian Device Exemption (HDE), which allows a device to be marketed once safety and benefit are established.

Dr. Vasum Peiris, Center for Devices and Radiological Health, FDA, gave an overview of how the FDA classifies and regulates medical devices.  He described the three tiers of risk-based classification and explained how regulatory requirements are gauged to risk.  He also clarified differences between the pathway for regulating novel devices and the clearance of devices shown to have substantial equivalence to an existing marketed device.  The discussion after these FDA presentations focused on the lack of devices specifically approved or cleared for the muscular dystrophies and the relevance of other devices, such as the Berlin Heart and the Impella heart pump, to the muscular dystrophy field.

Dr. Linda Cripe, Nationwide Children’s Hospital, presented on Cardiovascular Devices: Treatment of Duchenne Cardiomyopathy, which includes the use of implantable cardiac defibrillator (ICD), left ventricular assist devices (LVADs) and pacemakers.  Although ICDs have been shown to reduce sudden death in adults and children with cardiomyopathy from causes other than muscular dystrophies, the devices can give inappropriate shocks and are associated with other complications.  Studies of cardiomyopathy in boys and young men who have Duchenne muscular dystrophy found the incidence of arrhythmias is poorly defined and the incidence of sudden death may be low.  Because of the potential dangers, Dr. Cripe suggested that ICDs be used cautiously for patients with low heart function. She called for additional research into the natural history of cardiomyopathy in Duchenne patients who are using cardiovascular devices.  Since transplantation is not an appropriate treatment for heart failure in Duchenne muscular dystrophy, there has been interest in the use of LVADs or total artificial hearts (TAH) as destination therapies.  Efficacy of these approaches is unclear because their use for Duchenne muscular dystrophy is limited and well-controlled studies are complicated.  Pacemakers may have limited benefit due to “chaotic” motion of Duchenne hearts.  The discussion that followed Dr. Cripe’s presentation focused on safeguards for patients and strategies for disseminating information about risks, benefits, and uncertainties.  Committee members commented on the need for natural history studies about heart function and rhythm in Duchenne and other muscular dystrophies.

Mr. Ryan Fischer, Parent Project Muscular Dystrophy presented on Therapeutic and Assistive Devices for the Muscular Dystrophies.  Efforts by PPMD to advance assistive devices for Duchenne and Becker’s patients has been informed by a survey study of activities of daily living. This survey may be useful in other dystrophies and the organization is willing to share its survey instruments.  Results indicated that even small improvements can be meaningful to patients, and certain activities such as standing and repositioning oneself at night are highly valued.  PPMD has been collaborating with Solid Biosciences, Flextension, and Talem in conjunction with the New Jersey Institute of Technology to develop assistive devices ranging from upper limb supports to whole body suits. The goals of these devices are to improve posture, independent function and quality of life. However, developmental timelines are long, and the expectations and hopes of patients and their families are easily raised (especially through social media).  Mr. Fischer reminded Committee members that these devices also can be expensive, which will increase the burden on the patients’ families. Cost of commercialization and insurance coverage were discussed as possible stumbling blocks to the development of such devices.  NIH representatives reminded the committee that small business grants are available to support development of devices and other products.

Public Comment

There was a brief statement from Dr. Emily Trunnell representing the People for the Ethical Treatment of Animals, which recommends that canine research in muscular dystrophy field should be discontinued.


Dr. Katz briefly summarized the meeting and thanked the presenters and the committee for their participation. 



Committee Roster
Muscular Dystrophy Coordinating Committee

In attendance

Katz, Stephen I., PhD, MD
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Institutes of Health

Bianchi, Diana, MD
Eunice Kennedy Shriver National Institute of Chilod Health and Human Development
National Institutes Of Health

Cwik, Valerie, MD
Medical Director and Executive Vice President for Research
Muscular Dystrophy Association

Denger, Brian
Collaborative Programs Administrator
Parent Project For Muscular Dystrophy

Hesterlee, Sharon, PhD
EVP Patient Advocacy and Public Affairs
Pfizer, Inc.

Jillapalli, Devanand, MD
Medical Officer
Office of Orphan Products Development
Office of The Commissioner
Food and Drug Administration

Kiley, James P., PhD
irway Biology and Division of Lung Diseases
National Heart, Lung, and Blood Institute
National Institutes of Health

Koroshetz, Walter Joseph, MD
National Institute of Neurological Disorders and Stroke
National Institutes of Health

Mittal, Plavi Jain, PhD
Founder and Chief Executive Officer
In-Depth Diagnostics

Perez, Daniel Paul
President and Chief Executive Officer
Facioscapulohumeral Muscular Dystrophy Society, Inc.

Riley, Catharine, PhD, MPH
Newborn Screening, Genetics Services Branch, Maternal and Child Health Bureau
Health Resources and Services Administration

Salzar, Wanda L., MD
Congressionally Directed Medical Research Programs
U.S. Army Medical Research and Materiel Command

San Agustin, Theresa B., MD
Program Manager
National Institute on Disability, Independent Living and Rehabilitation Research
Administration for Community Living

Spenser, Melissa S.
Deputy Associate Commissioner
Office of Disability Policy
Social Security Administration

Street, Natalie, MS
Health Scientist
National Center For Birth Defects and Developmental Disability
Centers for Disease Control and Prevention

Wald, Peter J., Mph, MD
Enterprise Medical Director
United Services Automobile Association

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