Muscular Dystrophy Coordinating Committee (MDCC)
July 1, 2003
Democracy II, 6707 Democracy Blvd., Bethesda, MD; Room 701
Kenneth Bertram, DOD
Coleen Boyle, CDC, MDCC ad hoc member
Calvin Carpenter, DOD
Daofen Chen, NINDS
Stephanie Clipper, NINDS
Donavon Decker, Patient advocate, MDCC member
Morgan Downey, FSH Society
Mary Jean Duckett, CMS, MDCC member
Marian Emr, NINDS
Lorraine Fitzsimmons, NINDS, MDCC Executive Secretary
Patricia Furlong, Parent Project MD, MDCC member
Stephen Groft, ORD
Katrina Gwinn-Hardy, NINDS
James Hanson, NICHD, MDCC ad hoc member
Steven Hausman, NIAMS
Sharon Hesterlee, MDA, MDCC member
Stephen Katz, NIAMS, MDCC Chair
Lisa Kaeser, NICHD
Cheryl Kitt, NIAMS
Anita Linde, NIAMS
Richard Lymn, NIAMS
Cynthia McCormick, NINDS
Merle McPherson, HRSA, MDCC member
Patricia Morrissey, Administration for Children and Families (ACF), MDCC member
Ralph Nitkin, NICHD
Robert Pasternack, Dept of Education, MDCC member
Audrey Penn, NINDS, MDCC member
Charles Perez, FSH Society
Daniel Perez, FSH Society, MDCC member
Heather Rieff, NINDS
Philip Sheridan, FDA, MDCC ad hoc member
Giovanna Spinella, ORD
Bradley Stephenson, Patient advocate, MDCC member
Fei Wang, NIAMS
Summary of meeting:
Ms. Lorraine Fitzsimmons, Executive Secretary, called the meeting to order at 9 am, reviewed the code of ethics considerations, and gave an overview of the agenda. Dr. Stephen Katz, MDCC Chair and Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), welcomed the Committee members and thanked them for their service on the MDCC. He reviewed the Committee Charter and charge to the Committee, and noted that the Committee is required to develop and finalize a research plan one year from the time of the final appointment of all members to the MDCC. The Committee will likely meet one or two more times this year to develop this plan. Dr. Katz noted that much of this work can be done by e-mail and conference call.
During the morning session, members of the MDCC from government agencies presented an overview of their agencies' programs in muscular dystrophy (MD):
- Dr. Audrey Penn, Acting Director, National Institute of Neurological Disorders and Stroke (NINDS), discussed NINDS's mission - to reduce the burden of neurological disease - in the context of MD. She gave a historical overview of the identification of MD and of the dystrophin-glycoprotein complex. She outlined the challenges for MD research including the elucidation of the defects in facioscapulohumeral muscular dystrophy (FSHD) and the use of gene therapy and stem cell therapy. Dr. Penn also discussed the establishment of the MD Cooperative Research Centers, and how these Centers are meant to advance research and treatment - the Centers overall goal is to advance research from the "bench to bedside and back."
- Dr. Richard Lymn, Chief, Muscle Biology Branch, NIAMS, gave an overview of NIAMS's research programs in MD, which fall into three broad categories: skeletal muscle structure and development, muscle growth and regeneration, and inflammation in muscle. He discussed the role of the NIH MD Research Task Force in providing advice to the NIH about its research program. The Task Force has held two meetings, with different participants at each depending on topics discussed. The Task Force has discussed many issues including: identifying new capabilities to improve treatment; improving interactions among researchers and clinicians; and clinical research opportunities.
- An overview of the National Institute of Child Health and Human Development's (NICHD) programs was provided by Dr. James Hanson, Acting Director, Center for Developmental Biology and Perinatal Medicine, NICHD, who was substituting for Dr. Duane Alexander, NICHD Director. Dr. Hanson highlighted the priority research areas of the National Center for Medical Rehabilitation Research, the Center for Developmental Biology and Perinatal Medicine, and the Center for Research for Mothers and Children, all of which support programs relevant to MD. He outlined areas of particular interest to NICHD including: cognitive disabilities in MD; newborn screening; non-muscle complications of MD resulting in mental retardation and developmental disabilities; rehabilitation; and family issues.
- Dr. Philip Sheridan, substituting for Dr. Russell Katz (Director, Division of Neuropharmacological Drug Products, Office of Drug Evaluation 1, Center for Drug Evaluation and Research, FDA), described the role of the FDA in interactions with the pharmaceutical and biologics industries. He mentioned two important programs within the Center for Drug Evaluation and Research: the Orphan Drug Development Program, and a new office, the Office of Counter-Terrorism and Pediatrics. FDA (along with NIH) is actively implementing the provisions of the Best Pharmaceuticals for Children Act of 2002. Dr. Sheridan explained his background in drug development in the area of epilepsy, and emphasized the availability of the FDA to advise the research community in drug development issues.
- Ms. Mary Jean Duckett, Director of the Division of Benefits, Coverage, and Payment in the Disabled and Elderly Health Programs Group, Centers for Medicare and Medicaid Services, gave an overview of Medicaid services -- both home and institutional care -- that are available. Different programs offer flexibility from state to state to provide a variety of options including prescription drug reimbursement and rehabilitation services. One program, the Early and Periodic Screening, Diagnostic, and Treatment (EPSDT) Program, is a mandatory state Medicaid child health screening program. Members of the Committee expressed concern about the overall lack of uniformity from state to state in terms of services provided.
- Dr. Coleen Boyle, Associate Director for Science and Public Health, National Center on Birth Defects and Developmental Disabilities at CDC, represented Dr. Jose Cordero (Director, National Center For Birth Defects and Developmental Disabilities, CDC), and gave an overview of the programs at the Center that focus on Duchenne MD (DMD). She highlighted a cooperative agreement program funded by CDC on DMD Surveillance and Tracking. The scope of this program ranges from biomedical and molecular-related research on DMD to data collection on practices of care for DMD patients. In FY 2003, two new states were added to the program. The program proposes to analyze a number of parameters including the incidence and prevalence of DMD, the early natural and diagnostic history of the disease, the impact of type of care on outcome, and the effects of different mutations and potential modifying factors. CDC is also funding a DMD family survey through the Children's National Medical Center to determine service needs and barriers to service, quality of life, and the impact of newborn screening on family-related issues. The survey is currently in development. For FY 2003, CDC is also considering funding a survey of female Duchenne and Becker MD carriers, and particularly examining their risk of cardiomyopathy.
- Dr. Patricia Morrissey, Commissioner, Administration on Developmental Disabilities, Administration for Children and Families, discussed MD-related activities being undertaken by University Centers for Excellence on Developmental Disabilities. Eight of the Centers, which are authorized in the Developmental Disabilities Assistance and Bill of Rights Act of 2000, conduct research, provide training or clinical services, and/or collaborate with others on issues relevant to MD. Projects at these Centers range from biochemical and genetic research to clinical care, as well as a DMD surveillance and research program.
- Dr. Robert Pasternack represented the Office of Special Education and Rehabilitative Services at the Department of Education. The Office of Special Education and Rehabilitative Services administers IDEA (Individuals with Disabilities Education Act) programs. IDEA programs provide parent support and training and address family issues relevant to special education needs. MD is not one of the special education categories per se, but rather falls under the "other health impairments" category. A system of vocational rehabilitation is in place to help individuals with disabilities find employment. The National Institute on Disability and Rehabilitation Research supports basic and applied research to impact the lives of individuals with disabilities. A number of funded projects relate to the disabilities of patients with MD.
- Dr. Merle McPherson, Director, Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau at HRSA, discussed the work HRSA does related to the Presidents' New Freedom Initiative to provide community-based services for people with disabilities. A goal is to integrate and organize services and programs at the community level, although how to do this most effectively is a difficult challenge. Another goal of HRSA's programs is early diagnosis and early and continuous developmental/behavioral screening of all children.
Dr. Elias Zerhouni, NIH Director, spoke to the MDCC during the morning session of the meeting. He thanked the members for their commitment to the MDCC and acknowledged the leadership and energy that Dr. Katz will exercise in his role as Chair. Dr. Zerhouni recounted how one of his first activities as the new NIH Director was to meet with members of Congress about the implementation status of the MD-CARE Act. Dr. Zerhouni was accompanied by Dr. Katz, and they reassured the late Senator Wellstone and Senator Collins of the NIH's commitment to implementing the provisions of the MD-CARE Act.
Dr. Katz asked for public comment from members of the audience, and called upon two individuals to give an overview of their organizations' activities in MD:
- Colonel Kenneth Bertram, whose appointment as the Department of Defense representative to the MDCC was pending, discussed the Congressionally Directed Medical Research Programs (CDMRP), US Army Medical Research and Materiel Command (USAMRMC). The mission of the USAMRMC is to shape the future of health care and conduct medical research and development projects to protect soldiers and their beneficiaries. Many medical developments and advances originally developed for military personnel and their families have been made available to and benefited the general public. The CDMRP was started in 1993 to fill a need for more research in breast cancer. It funds 'customer-focused,' product-driven research targeted to specific diseases. In FY 2003, the CDMRP received an appropriation of $3.4 million for muscular dystrophy research, all of which is expected to be committed in this fiscal year. Proposals are currently in peer review and include basic research, clinical research, and resource development. The review process includes both scientific and programmatic review to ensure relevance to MD and military relevance.
- Dr. Stephen Groft, Director, Office of Rare Diseases at NIH, gave an overview of ORD's programs. ORD provides information and organizes workshops on rare diseases, in partnership with other NIH components. In addition, the doubling of the NIH budget has enabled a large increase in research on rare diseases and has allowed ORD to begin to implement some exciting programs. ORD recently issued a Request for Applications for Clinical Research Centers for Rare Diseases, and to date, has received approximately 80 letters of intent. ORD will fund up to four Centers as well as a data coordinating center. ORD is also thinking about ways to encourage translational research in rare diseases.
The Committee discussed ways to encourage companies to get involved in development of therapies for rare diseases and Dr. Groft highlighted the Small Business Innovative Research Grants (SBIR) and the Small Business Technology Transfer Grants (STTR) Programs at NIH, as well as the importance of continuing to increase the amount of basic research on these diseases coming down the pipeline.
The Committee also discussed the potential benefits of a patient registry and clinical network to aid in clinical and epidemiological studies. The Cystic Fibrosis Foundation patient network was cited as a model. There was enthusiasm expressed by several members about the potential for integrating muscular dystrophy knowledge into activities across different agencies. As an example, Mr. Perez noted that more information about the early natural history of FSH dystrophy should be made available to physical education teachers especially in middle and high schools when symptoms might be detected and diagnostic referrals made. Dr. Pasternack expressed great interest in this idea.
The meeting was recessed for lunch.
The afternoon session began with presentations from the public members of the MDCC:
- Ms. Patricia Furlong discussed her family's personal experience with Duchenne MD as well as the efforts of her organization, Parent Project MD. She stressed the need for more education and widespread knowledge about DMD, and felt that effective partnerships need to be developed between government, academia, and pharmaceutical companies.
- Dr. Sharon Hesterlee, Director of Research Development for the Muscular Dystrophy Association (MDA), gave an overview of MDA's programs including research funding, and patient and community services. She discussed MDA's new Translational Research Program. The goals of this program include supporting the development of infrastructure, providing a blueprint for conducting translational research through education and structured grants, addressing the shortage of clinical investigators, and strengthening relationships with the biotechnology and pharmaceutical industries. The program is still taking shape, but MDA plans to launch it soon.
- Mr. Daniel Perez, patient advocate and President and CEO of the Facioscapulohumeral Society, Inc. (FSH Society), discussed the work of this organization to provide education on the unique nature of FSH dystrophy. The FSH Society reaches out to approximately 8,000 -10,000 individuals, and also funds post-doc grants. Mr. Perez also discussed the "whole body" issues of MD, and was pleased to see so many NIH Institutes participating in the meeting.
- Mr. Donavon Decker, patient advocate, was the first patient to undergo gene therapy for limb girdle MD. He shared his experiences of having many family members afflicted with this disorder, including several family members. He described his experience working with Drs. Kevin Campbell and Jerry Mendell during the gene therapy trial, and expressed his strong support for the initiation of new gene therapy trials. He also commended the MDA for their strong support of patients with MD.
- Mr. Bradley Stephenson, patient advocate with Becker MD, described the symptoms and progression of Becker MD and offered his suggestions for developing a research plan. He felt that the plan should contain specific action items for the NIH Institutes, and should draw upon the work of other groups such as the NIH MD Research Task Force, MDA, and other groups.
The Committee discussed how to approach their task of developing a research and education plan for NIH. Pat Furlong mentioned the need to look at a range of research options as well as care issues. Dan Perez was interested in an evaluation of the process of review of MD grants at NIH. He felt there was a mismatch between the research needs for particular disorders and the review process. The Committee may be interested in inviting Dr. Ellie Ehrenfeld, Director, NIH Center for Scientific Review, to a future MDCC meeting.
There was some discussion about how to include other agencies and groups with an interest in MD in the research plan, since the MD-CARE Act mandates that the MDCC develop a plan specifically for NIH ("...the Coordinating Committee shall develop a plan for conducting and supporting research and education of muscular dystrophy through the national research institutes..."). The Committee discussed that while we need to be aware of, and consider the activities of other groups, the first task of the Committee is to develop this plan for the NIH. Once the plan is developed, there will certainly be opportunities to discuss how other groups' activities fit with, or may build upon, this plan, and how NIH can work collaboratively and cooperatively with these other groups. It was envisioned that other agencies may wish to form their own working groups to expand upon issues identified by the MDCC for future program development.
Lorraine Fitzsimmons shared with the Committee examples of other research plans that have been developed at NIH: the "Benchmarks" for Epilepsy Research; the Report of the Brain Tumor Progress Review Group; and the Parkinson's Disease Matrix and corresponding narrative (she noted that a full Parkinson's Research Agenda is available on the web; see http://www.ninds.nih.gov/about_ninds/plans/nihparkinsons_agenda.htm). Dr. Stephen Katz noted the important role that advocacy groups played in developing and revising these plans, once the initial input of the scientific research community had developed the core of the plan.
Ms. Fitzsimmons discussed one option for developing a plan, which is to use the Risk vs. Time Matrix format (an approached favored by Dr. Zerhouni) to identify research opportunities, needs, and roadblocks. Dr. Katz noted the importance of determining what the science needs are, rather than focusing on which specific mechanisms to use, or prescribing specific dollar amounts to advance the goals.
The Committee discussed using the expertise on the NIH MD Research Task Force to develop the plan. One idea is for some members of the MDCC to participate in the next Task Force meeting (tentatively scheduled for the fall) to work on a research plan. This 'working group' could further refine the plan via email and the full MDCC could meet in 5-6 months to discuss the plan and begin to finalize it. Sharon Hesterlee mentioned a Muscle Biology meeting, tentatively planned for January in San Diego, as a possible place to vet such a plan, depending on what stage of development the plan is in by then. Pat Furlong suggested that a website - possibly a password-protected one - may facilitate the process of developing such a plan and distributing working documents and sharing comments during the plan's development.
The Committee was asked which other NIH components should be involved in developing the plan and Committee members cited the National Heart, Lung, and Blood Institute (NHLBI), the Office of Rare Diseases (ORD), the National Human Genome Research Institute (NHGRI), and the National Center for Research Resources (NCRR) as important players.
The meeting was adjourned at 3:30 pm.
This document was approved by Stephen I Katz, M.D., Ph.D., Chair, MDCC and by Lorraine G. Fitzsimmons, MDCC Executive Secretary on September 25, 2003.