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Meeting Summary -- Muscular Dystrophy Coordinating Committee (MDCC)


Muscular Dystrophy Coordinating Committee

March 22, 2004

Summary of Meeting

The interagency Muscular Dystrophy Coordinating Committee (MDCC) was convened for its 2nd meeting on March 22, 2004, at the Marriott Suites Hotel, Bethesda, Maryland.  Dr. Stephen Katz, Director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), served as Chairperson.

In accordance with Public Law 92-463, the entire meeting was held in open session.

  1. Call to Order and Opening Remarks

    Dr. Stephen Katz called the meeting to order at 8:45 a.m. He welcomed the Committee members and explained the purpose of this meeting, which was to review the draft research and education plan. He then asked people to introduce themselves.

    Ms. Lorraine Fitzsimmons, Executive Secretary, noted the following changes to the Committee: Dr. Story Landis, newly appointed Director of the National Institute of Neurological Disorders and Stroke (NINDS), replaced Dr. Audrey Penn, the NINDS Deputy Director. Dr. Robert Pasternack left the U.S. Department of Education, and a nomination for his replacement has been requested from ED.

    Ms. Fitzsimmons reviewed the code of ethics considerations as well as the recusal policies and procedures. The minutes from the last MDCC meeting were circulated in September 2003, and there were no comments on them, so the minutes were accepted. The minutes, along with other Committee information, including future meeting agendas, will be posted on the MDCC Web site. The link, (, was distributed to participants.

    Ms. Fitzsimmons then explained the process of developing the draft research and education plan. At the first MDCC meeting, Committee members suggested establishing a Working Group, comprised of scientific experts, to help draft the plan. The Working Group met in October 2003 to develop a plan for Muscular Dystrophy (MD) research and to identify research roadblocks and opportunities. Some of the goals developed were specific to particular forms of MD, whereas other goals were common to all forms of MD. As the goals were revised by the Working Group, many of them were broadened. As a result, the goals did not lend themselves to a time-risk matrix format, because many of them include multiple time-risk designations. Therefore, with the concurrence of the working group, the National Institutes of Health (NIH) will develop a matrix at the same time that it develops implementation strategies. Ms. Fitzsimmons also reiterated that, although the research plan is for NIH, there will be issues that go beyond NIH, and other Federal agencies will need to be involved as implementation strategies are developed.

    Dr. Katz mentioned that, because this information is due to Congress in July, Committee members will need to pay strict attention to timelines to ensure the timely delivery of written materials.

  2. Discussion of the Draft MD Research and Education Plan

    The meeting was then turned over to Dr. Kenneth (Kurt) Fischbeck, Chief of the Neurogenetics Branch, NINDS, who gave an overview of Broad Heading 1: Understanding Mechanisms of Disease.

    Under this heading, Dr. Fischbeck discussed genes for the various forms of MD that already have been identified. Different genes and different mechanisms may involve various treatments but may have commonalities. There remains a need to identify and understand critical pathways in the various forms of MD to be able to design effective treatments.

    Common themes in MD include deficits in muscle structural proteins, altered gene expression and RNA processing, and the failure of compensatory mechanisms. Questions to be answered include the following:

    • How do structural protein deficiencies lead to disease?
    • How do triplet repeat expansions lead to disease?
    • What are the mechanisms of other (not Duchenne) dystrophies?
    • Are there genetic or environmental modifiers?

    At this point in the discussion, Mr. Daniel Perez, an MDCC member, noted that the gene for FSH Dystrophy (FSHD) has not been identified. Dr. Sharon Hesterlee, an MDCC member, commented that for many congenital MDs, no genes have yet been identified; as a result, many patients remain undiagnosed for certain forms of MD. She stressed the importance of pursuing this area of research. Mr. Donavon Decker, an MDCC member who has undergone gene therapy for MD, said that he thought there is no need to hold up gene therapy trials just because research has not yet identified all the genes.

    Dr. Katz charged the group to remember the broad heading, "Understanding Mechanisms of Disease," with the proviso that there are some unique understandings that researchers need that are critical to understanding how interactions occur. Ms. Patricia Furlong, an MDCC member, agreed with Dr. Katz that a multifaceted approach is needed.

    Dr. Fischbeck discussed the current understanding of how triplet expansion leads to disease. He pointed to myotonic dystrophy type 1, thought to be caused by an mRNA toxicity mechanism. Dr. Hesterlee noted that it is important to understand what causes these repeat expansions as well as what the expansions do; this understanding could lead to targets for intervention. Dr. Fischbeck added that researchers in this area might apply lessons from similar processes seen in other diseases, such as Huntington's disease. He talked about understanding the unique pathobiology of other dystrophies. FSHD likely involves changes in gene expression caused by alterations in chromosome 4. Emery-Dreifuss MD, on the other hand, is caused by defects in nuclear envelope proteins.

    Genetic and environmental modifiers were also discussed. These can be identified in patient or animal models and offer opportunities for therapeutic intervention. Modifiers may account for the variable susceptibility of different muscles. Mr. Decker stated that five of his family members are affected with MD of varying severity. Mr. Perez mentioned the importance of understanding why some muscles are affected and others are not.

    Dr. Fischbeck talked about opportunities for therapeutic intervention:

    • Correct the gene defect(s).
    • Block deleterious effects of genetic defect(s).
    • Replace defective gene(s).
    • Block muscle degeneration.
    • Enhance muscle regeneration.

    Dr. Landis suggested that blocking muscle degeneration should be seen as the primary goal for treating all forms of MD. Dr. Hesterlee agreed and commented that it might be better to stop the process more "upstream" (e.g., block muscle degeneration) and perhaps that approach should be a research priority.

    Dr. Fischbeck responded with common approaches to developing treatments:

    • Using common mechanisms to allow more efficient use of research funds
    • Studying other diseases to uncover possible common mechanisms
    • Partnering with pharmaceutical companies regarding chances for commercial development. (He cited a joint project involving researchers at Johns Hopkins University and Wyeth Pharmaceuticals to investigate blocking myostatin as a therapeutic strategy.)

    During the ensuing discussion, Mr. Morgan Downey raised questions from the audience, involving international monitoring and disease epidemiology. Dr. Giovanna Spinella, Office of Rare Diseases, NIH, suggested looking at nonskeletal muscle and other manifestations of disease (e.g., cardiomyopathy in cardiac muscle; brain manifestations) for clues to disease mechanisms.

    Dr. Katz then introduced Dr. Eric Hoffman of Children's National Medical Center (via telephone) to speak about Broad Heading 2: Screening/Diagnosis, and to lead a discussion of developing effective newborn screening strategies. Dr. Hoffman suggested that Dr. Coleen Boyle, Associate Director for Science and Public Health, Centers for Disease Control and Prevention (CDC), update the Committee about a CDC meeting held two weeks earlier.

    Dr. Boyle said that the meeting reviewed experiences with newborn screening programs and information from Wales, Germany, Belgium, France, and Cyprus. Of particular interest were issues of informed consent; psychosocial needs of families and individuals; and assessment of risks and benefits (i.e., efficacy of early intervention opportunities).

    Outcomes and issues from the CDC meeting included the following:

    • Research is making it possible to reduce the age of diagnosis of children with Duchenne MD (DMD), although newborn screening is not appropriate at this time.
    • The issue of false-positive results has a negative impact on families.
    • Newborn screening is a program with many essential elements, not just the performance of a test; system care, such as genetic counseling, and clinical care need to be considered.
    • Questions remain about how beneficial early treatment with steroids is, and at what age such treatment should begin.

    Ms. Furlong said that everyone recognizes the need for early diagnosis of MD. The information presented, she added, augments evidence about the importance of early diagnosis. When screening is delayed until the 12th month of life, 20 percent of the people are lost. Dr. James Hanson, National Institute of Child Health and Human Development (NICHD), mentioned the need for a cost-effective molecular test that can be applied in the newborn period, and Dr. Katz agreed with that statement.

    The meeting was turned back to Dr. Hoffman, who indicated that approximately 1.5 million infants have been screened for DMD in the United States. The screening rate is lower than what is generally quoted, which is to be expected when the more familial cases are cancelled out, he said. To include DMD in newborn screening, better tests need to be developed or false positives need to be screened out; a system is also needed to support parents and prospective patients by providing helpful care when a diagnosis is made.

    Dr. Hoffman said that it is important to improve molecular diagnostics, because there are many patients with unknown genes or gene defects. That is a challenging task, he added, with regard to sensitivity, specificity, cost, and turnaround time. There might be some way to encourage laboratories to develop new methods to sequence all genes or to look for peripheral blood markers from small plasma samples. The use of microarray systems is possible, but this is expensive and technically challenging. About 200 laboratories offer dystrophin testing, but these find only about 60 percent of patients with DMD. Fewer labs (only about two or three in the United States) perform more specific testing, such as looking at duplication or small deletions.

    Mr. Perez asked about FSH testing. This issue, said Dr. Hoffman, is particularly challenging, but methods have improved. Dr. Fischbeck stated that this is a moving target; the majority of MDs do not have genetic testing available. Dr. Hoffman noted that biochemical testing is not as reliable as genetic testing. Dr. Spinella mentioned an upcoming meeting to be held in May with CDC that pertains to genetic testing.

    A colleague of Dr. Hoffman, Dr. Diana Escolar, Children's National Medical Center, addressed the issue of natural history studies by telephone. She pointed out the need for observational, population-based studies. Collected data should be broad enough to be meaningful and should be collected in a reliable and uniform fashion. Measures of muscle, pulmonary, and cardiovascular function should be collected as clinical data sets. In FSH, phenotype/genotype correlations are needed. It was suggested that an example of a clinical data set to emulate is the amyotrophic lateral sclerosis (ALS) observational database. Dr. Katz observed that it is difficult to standardize data but noted the cystic fibrosis (CF) community provides a good example of where this is being done. CF groups work together synergistically, and they develop good, standardized data collections.

    Mr. Perez asked about the number of children screened for DMD. He said that he would like to see the section under newborn screening broadened to include all dystrophies and mentioned that preimplantation testing for FSHD is available outside the United States.

    The issue of genetic discrimination was raised by Dr. Duane Alexander, Director of NICHD. Unless this is addressed, there will not be effective newborn screening processes. He felt that this issue should be highlighted as a potential obstacle needing congressional oversight.

    Dr. Merle McPherson, Director of the Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Health Resources and Services Administration, said that the health service delivery system must be engaged and that screening cannot occur in a vacuum. She urged the Committee to consider this point and how it relates to health care delivery. Dr. Katz responded that this is certainly an issue; the initial focus of the plan is on research, but as implementation strategies are developed, these issues, and the agencies involved with them will be critical.

    Dr. Katz then introduced Dr. Jerry Mendell, Ohio State University, who talked via telephone about Broad Heading 3: Treatment Strategies.

    There are three overall approaches to treatment: pharmacologic, gene therapy, and stem cell therapy. The forms of MD on which to focus initially are DMD, FSHD, and myotonic dystrophy. Success in any one of these will have an impact on other disorders.

    The first approach discussed was gene therapy. There need to be more large animal studies in this area. Mouse studies are limited in the amount of muscle weakness that the animal can demonstrate; large animal models, like dogs, are better suited to address safety and efficacy issues, and the results are more applicable to humans. Large animal colonies are receding in supply and are expensive to maintain, so more money is needed to support them. Mr. Decker asked if pharmaceutical companies would participate if large animal studies were conducted. Dr. Mendell replied that it is very likely and that dog colonies are needed to demonstrate successes. Mr. Perez asked if there are primate models for MD, but Dr. Mendell said that there are no naturally occurring primate models for MD and that primate studies are very expensive to conduct.

    Dr. Mendell then talked about the need to develop clinical grade vectors and that large amounts of vector are needed for multicenter clinical trials. Dr. Katz suggested that someone be brought in from the National Center for Research Resources (NCRR) to find out what is needed for large-scale vector production. Dr. Audrey Penn suggested involving the National Institute of General Medical Sciences (NIGMS). Dr. Hesterlee proposed reaching out to industry and remarked that many of these research areas (e.g., animal studies, vector development) should be pursued in parallel.

    New viral vectors are able to reach remote sites after infection into the bloodstream. Adeno-associated viruses (AAV), retroviruses, lentiviruses, and herpesviruses are some of the vectors that hold promise; there are advantages and disadvantages to each. Mr. Perez asked about which dystrophies these vectors could be used to treat. Initially, DMD and limb girdle MD are most applicable, but they may eventually accommodate most MDs.

    Dr. Mendell explained that gene therapy is not only the replacement of missing genes. Other promising strategies include the use of antisense oligonucleotides to promote exon skipping and to allow normal gene expression, as well as the introduction of other genes to improve muscle mass and strength (e.g., IGF-1, modification of myostatin). Combining gene replacement with some of these other approaches may be the most effective strategy.

    Dr. Mendell commented that serotype issues are part of an exciting area that involves using subtypes of existing viruses as vectors. Some, such as AAV6 and AAV8, are known to cross the bloodstream into muscle. Some people's immune systems may have been previously exposed to these viruses, and the Food and Drug Administration (FDA) has restrictions on the use of vectors in patients with high titers of antibodies to these viruses. Dr. Mendell thought that the patient population needs to be surveyed to obtain a picture of their immune status and that this is important in light of future clinical studies.

    When asked how close researchers are to conducting clinical trials, Dr. Mendell responded that scientists are on the verge of restarting gene therapy trials and there have been several discussions with the FDA.

    Dr. Mendell said that, with regard to stem cell therapies, skin, muscle biopsies, and bone marrow might all be sources of stem cells. He addressed the difference between myoblasts (which do not appear to have the potential to differentiate) and muscle stem cells (which can differentiate, possibly into all the components of muscle). Much remains to be learned about cell therapy, including growing stem cells, cell delivery, and immunologic rejection.

    MDCC member Bradley Stephenson indicated that he would like to see embryonic stem cells mentioned in this report. Dr. Hesterlee added that she does not know of any group that has used embryonic stem cells in MD research. Mr. Perez commented that he would like to see more research on embryonic tissue and muscle stem cells.

    Mr. Stephenson asked about somatic cell nuclear transfer. Dr. Mendell advised that genetically competent (rather than affected) nuclei should be used. This is a line of research that has been largely neglected but would obviate the immunologic response. Mr. Stephenson thought that somatic cell nuclear transfer should be included in the section on cell therapy.

    In the area of pharmacologic strategies, Dr. Mendell mentioned that corticosteroids have been used aggressively for the past 15 years and are the standard of treatment for MD. The challenge in terms of patient management concerns side effects. The mechanism of action of steroids needs to be studied, because this may help design other drugs that could work similarly but would lack the side effects.

    Dr. Mendell stated that it is known that damage from MD is reduced when steroids are administered early and that there is more to learn about dosing regimens. Drug "holidays" may help patients avoid side effects, and it is possible that larger weekly doses are more suitable than daily doses. Dr. Katz asked if methods to measure benefits were available; Dr. Mendell replied that this is a complex issue.

    There also are limited practice guidelines for the use of steroids and no standard of care. LT COL Calvin Carpenter, ad hoc MDCC member, noted that there need to be standards to which we can compare new therapies. The American Academy of Neurology is expected to release practice parameters for treating DMD with steroids in spring 2004.

    Dr. Mendell then addressed other pharmaceutical treatment approaches and accelerated drug screening. One approach is to manipulate genes with pharmacologic agents. Studies are under way using aminoglycosides. Another area of study involves using monoclonal antibodies to inhibit myostatin, with a clinical trial now under way. Researchers also are looking at upregulation of other genes, including utrophin. High- throughput screening can help screen huge numbers of compounds for potential drugs. Dr. Katz mentioned that this type of technology has the power to benefit all MDs. There are aspects of the NIH Roadmap Initiative that address this issue.

    Treatment options for complications and comorbid conditions were also addressed by Dr. Mendell. These can involve nonskeletal muscle, such as cardiac tissue. Other areas of concern include pulmonary issues and learning disabilities. Treatment strategies to address these issues should also take into account that younger and older populations are affected.

    Mr. Perez raised a question involving hormonal changes in adolescents and young adults as well as the overall hormonal aspects of MDs (i.e., menopause and sex differences). Dr. Mendell noted that steroids delay adolescence and contribute to short stature and said that there are hormonal issues that likely have been understudied.

    Dr. Hesterlee mentioned that comorbid factors in myotonic dystrophy (e.g., cardiomyopathy, diabetes) are very important and that muscle weakness in this disease process is almost the least of the problems. Ms. Furlong said that osteoporosis needs to be addressed in MD patients. Dr. Katz brought up bone scans in children, and Dr. Mendell replied that there are no standards for interpretation of bone scans in this population.

    (The group broke for lunch at 12:30 p.m. and reconvened at 1:15 p.m.

  3. Update on the Senator Paul D. Wellstone MD Cooperative Research Centers

    After the lunch break, Dr. Katz asked Dr. Richard Lymn, NIAMS, to discuss the Senator Paul D. Wellstone MD Cooperative Research Centers. Three Centers were recently funded, one each by NINDS, NIAMS, and NICHD. At the University of Pittsburgh, researchers are looking at potential gene and cell therapies (one involving cardiomyopathy). At the University of Rochester (New York), there is a focus on myotonic dystrophy and FSHD, and a clinical project is under way. At the University of Washington, researchers are investigating the means of developing and delivering adenoviruses and are looking at safety and efficacy issues in mice and dogs. Dr. Hesterlee said that the MDA, through a partnership with NIH, is providing a $500,000 supplement for research projects to each Wellstone Center.

  4. Continuation of the Discussion of the Draft MD Research and Education Plan

    The discussion of the next broad topic area, Broad Heading 4: Living With MD: Rehabilitation, Quality of Life, and Psychosocial Issues, was led by Dr. Hanson of NICHD.

    Dr. Hanson noted the need to determine the extent of cognitive involvement in MD. While cognitive and behavioral aspects have been documented in DMD, some congenital MDs, and myotonic dystrophy, less is known about cognitive and behavioral issues in other forms of MD, and much remains unknown about progressive changes in cognition and behavior in most forms of MD. Educational interventions need to be addressed, and the factors contributing to the variability of outcome also need to be understood.

    Rehabilitation issues that need to be considered include improving functional mobility and promoting behavioral adaptability to functional loss, developing improved assistive technologies, and training scientists in the field of rehabilitation. Rehabilitation and the prevention of secondary conditions—manual strength, muscle weakness and wasting, spinal deformities, cardiomyopathy, respiratory problems, and nutritional concerns—also need to be addressed.

    Quality-of-life measures need to be developed and applied to assess intervention strategies, Dr. Hanson said. He also mentioned that psychosocial issues relating to participation in the full range of societal activities (employment, education, transportation, and recreation) should be addressed.

    Dr. Michael Weinrich, Director, National Center for Medical Rehabilitation Research, NICHD, addressed the issue of rehabilitation research. Nine NIH Institutes are participating in a recently issued joint program announcement on "Research Partnerships for Improving Functional Outcomes." The purpose of this initiative is to encourage basic, applied, and translational research directed toward improving the health of individuals with acute or chronic diseases who may benefit from rehabilitation, and MD is specifically included in the scope of research. Mr. Perez noted that rehabilitation is one of the few methods that we have to treat MD today. Ms. Furlong mentioned that physical therapy often is not covered by insurance, possibly due to the lack of ICD-9 codes.

    Dr. Weinrich discussed the issue of exercise and said that there are no good guidelines for which exercises are therapeutic or harmful. Mr. Perez asked about the issue of setting guidelines in general. Patients have many questions: "Should I exercise? What kinds of exercise should I do? When should I consider a wheelchair?" Dr. Katz commented that the setting of guidelines is not necessarily part of the NIH mandate, however, there are times when a clinical consensus is needed. Dr. Hanson pointed out that NIH does not set guidelines (as this is more the province of medical societies and associations). However, it is important that research results be made available to specialists, and Dr. Katz added that translating knowledge into behavioral change is an important issue.

    Dr. Katz asked about health disparities in MD, and questioned if there are racial and/or ethnic disparities in certain forms of MD. Dr. Hanson noted that there is a need to understand health disparities among subgroups of people with MD. Most of the MDs (other than DMD) have not really been studied epidemiologically around the world. Dr. Lymn noted that there are family and Tribal groupings, which seem to be distinct subgroups. Dr. Hesterlee revealed that, in the case of oculopharyngeal MD, there seems to be a distinct French-Canadian grouping but that it is now also being seen more in people of Spanish descent.

    Mr. Stephenson mentioned the issue of the management of cardiomyopathy. He said that, although the use of beta-blockers, or ACE inhibitors, can prevent or delay the onset of cardiomyopathy in MD, additional studies need to be conducted with these drugs. Dr. Katz said that cardiomyopathy could be considered a complication rather than a comorbid condition.

    Dr. Katz and Dr. Landis then addressed Broad Heading 5: Research Infrastructure Needs. Dr. Landis noted the need to increase the number of investigators in MD—particularly pediatric neurologists, and that a variety of mechanisms could be used to increase the number of practitioners in this area. Mr. Perez asked if there was a way to stimulate the number of submitted applications. Dr. Katz explained that this is an issue that needs more than just money, as there is a general dearth in the number of practitioners in all pediatric subspecialties. Dr. Hesterlee noted that there was a real shortage of clinical researchers, and Dr. Landis added that a funding mechanism needs to be created to encourage the development of junior faculty at research centers, possibly through fellowship training and other awards.

    Other matters concerning research infrastructure were addressed. Dr. Katz said that technology can be used to measure the efficacy of interventions and that new imaging methods should be pursued. The best type of imaging modality has not yet been defined regarding detection and surrogate markers of prevention. Dr. Landis recognized that the potential here is great, and that imaging has provided answers in multiple sclerosis (MS), and it could help significantly in MD.

    Dr. Landis discussed the need to develop new animal models of disease, and to make current models more available. The NCRR has a major initiative in place to provide animal models to researchers, and NINDS provides funds for the distribution of mouse models.

    Dr. Katz suggested developing centralized mechanisms for the collection of diagnostic and clinical data. Dr. Hesterlee remarked that she is leading a translational research program at the MDA, and was pleased to see that almost everything on the MDA's strategic plan for translational research was mirrored by the Working Group. An MDA clinical trials network working group will be meeting this summer, and it may address the issue of a patient registry. The MDA also will be looking for opportunities to partner with interested parties.

    The issue of the collaboration and facilitation of research was raised. It was noted that the European groups do some things well, such as groups of 18 to 20 researchers who get together regularly to focus on specific issues. They also do a good job of taking interdisciplinary and trans-disciplinary approaches.

    Mr. Decker asked if patient records could be made available as a shared database, and Dr. Hesterlee responded that the MDA does not keep patient records in that form. The issues of patient confidentiality and privacy also were addressed. Dr. Katz discussed improving access to biological materials but added that this has many challenges, such as privacy, sharing of clinical information, and consent.

    Dr. Hesterlee suggested looking at industry as a potential partner in building patient networks. Dr. Katz noted that interested parties can explore using the power of NIH to bring the FDA to the table for the purpose of informing industry about what needs to be done, and mentioned that patient advocacy groups have the most clout in forming a link between NIH and patient networks. He cited the Cystic Fibrosis Foundation as an example of a group that has strong links to industry. Ms. Furlong mentioned a $1.5 million grant to PTC Therapeutics from Parent Project Muscular Dystrophy to initiate a high-throughput screening, with the goal of identifying new drugs. Dr. Hanson noted that the MDA has experience collaborating with industry as well.

    (A break was taken at 3:05 p.m.; the meeting reconvened at 3:15 p.m.)

    The next section of the meeting focused on epidemiology. Dr. Richard Moxley, University of Rochester, joined the meeting by telephone to discuss the National Registry of Myotonic Dystrophy and FSHD patients and family members at the University of Rochester. This registry matches patients with researchers to join in trials. There are currently nine active research protocols that make use of the registry, and more protocols are expected to be approved soon. Approximately two-thirds of the protocols are located outside of Rochester, but some collaboration occurs between those sites and Rochester. He referred attendees to a registry newsletter and to other information that had been distributed prior to the meeting.

    Dr. Moxley said that his group is brainstorming to develop general strategies that would improve patient recruitment and strategies for using existing members of the registry to recruit other family members. Forms and surveys for the registry are filled out annually to capture additional data. In response to a question about the role of the FSH Society in getting people to apply to a registry, Dr. Moxley said that the organization has played a major role and has been supportive in many ways. There is a critical role for patient groups in this activity, he added.

    Dr. Boyle then talked about CDC activities, specifically the MD Surveillance Tracking and Research Network (MD STARnet). There are four State projects that are part of STARnet (Arizona, Colorado, Iowa, and western New York). These projects were funded in fiscal year (FY) 2003, and they are modeled after other programs to identify all cases of a particular disorder within a community. Funding in the amount of $500,000 was awarded to establish the surveillance piece. Neuromuscular clinics at which children, adolescents, or young adults up to age 20 are diagnosed and/or receive care were targeted. Information is collected and updated regularly. This project also contains a longitudinal component; families are interviewed to collect additional data. A pilot program—a "bio" bank, in which biological information is collected on each patient—is being added this year to improve the ability to understand the natural history of the disease and to correlate genotype and phenotype.

  5. Next Steps

    To conclude the meeting, Dr. Katz asked Ms. Fitzsimmons to discuss the next steps. Ms. Fitzsimmons said that comments from today's meeting would be reviewed and used to add to or modify existing goals. A revised document will be sent to MDCC members for review. Additional background will be added to the list of goals to help form a cohesive report. The entire document will be sent to the MDCC members for approval before it is submitted to Congress.

    Dr. Hesterlee asked about implementation; Ms. Fitzsimmons responded that this will be addressed in subsequent reports, but that the subject document is more responsive to the charge from Congress. The MDCC is not involved in specific implementation strategies.

    Mr. Perez initiated a brief discussion on funding. It was noted that patient advocates are expected to raise such issues, but the response to NIH actions overall is very favorable. Dr. Katz mentioned that, as the steward of research dollars, NIH needs to act responsibly and reasonably and for the greater good. Ms. Furlong mentioned that in the past few years, the MD community has come together to work more closely with NIH. She said that she feels progress is being made.

    Dr. Katz said that at the end of FY 2005 there will be another report from the Committee updating Congress on the implementation of the report.

  6. Adjournment

    The meeting was adjourned at 4:15 p.m.

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

Lorraine G. Fitzsimmons
Executive Secretary, Muscular Dystrophy Coordinating Committee
Director, Office of Science Policy and Planning, National Institute of Neurological Disorders and Stroke

Stephen I. Katz, M.D., Ph.D.
Chairperson, Muscular Dystrophy Coordinating Committee
Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases

June 4, 2004.



Duane Alexander, NICHD, MDCC member
Coleen Boyle, CDC, MDCC ad hoc member
Calvin Carpenter, DOD, MDCC ad hoc member
Daofen Chen, NINDS
Donavon Decker, Patient Advocate, MDCC member
Morgan Downey, FSH Society
Diana Escolar, Children's National Medical Center, by telephone
John Fakunding, NHLBI
Kenneth (Kurt) Fischbeck, NINDS
Lorraine Fitzsimmons, NINDS, MDCC Executive Secretary
Elizabeth Freedman, NIAMS
Patricia Furlong, Patient advocate, MDCC member
Katrina Gwinn-Hardy, NINDS
James Hanson, NICHD
Joanne Hawana, The Blue Sheet
Sharon Hesterlee, Patient/Professional Advocate, MDCC member
Eric Hoffman, Children's National Medical Center, by telephone
Troy Justeson, U.S. Department of Education
Stephen Katz, NIAMS, MDCC Chair
Lisa Kaeser, NICHD
Phil Kibak, Science Writer, MasiMax Resources, Inc.
Cheryl Kitt, NIAMS
Story Landis, NINDS, MDCC member
Anita Linde, NIAMS
Richard Lymn, NIAMS
Ophelia McLain, Administration for Children and Families, MDCC ad hoc member
Merle McPherson, HRSA, MDCC member
Jerry Mendell, Ohio State University, by telephone
Richard Moxley, University of Rochester, by telephone
Mary Lou Oster-Granite, NICHD
Audrey Penn, NINDS
Daniel Perez, Patient Advocate, MDCC member
Heather Rieff, NINDS
Susan Speesman, personal assistant to MDCC member Daniel Perez
Giovanna Spinella, ORD
Bradley Stephenson, Patient Advocate, MDCC member
Roger Stephenson, accompanying Bradley Stephenson
Brian Stutzman, personal assistant to MDCC member Donavon Decker
Philip Surine, Centers for Medicare and Medicaid Services, MDCC ad hoc member
Michael Weinrich, NICHD

Last Modified December 22, 2015