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Meeting Summary -- Muscular Dystrophy Coordinating Committee (MDCC)


DEPARTMENT OF HEALTH AND HUMAN SERVICES
NATIONAL INSTITUTES OF HEALTH
MUSCULAR DYSTROPHY COORDINATING COMMITTEE

December 1, 2004
Summary of Meeting

The Interagency Muscular Dystrophy Coordinating Committee (MDCC) was convened for its 3rd meeting on December 1, 2004, at the Holiday Inn, Silver Spring, Maryland. Dr. Stephen Katz, Director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), served as Chairperson and Dr. Heather Rieff, Office of Science Policy and Planning of the National Institute of Neurological Disorders and Stroke (NINDS) served as Executive Secretary. 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 9:00 am. He welcomed the Committee members and attendees and explained the purpose of this meeting, which was to discuss muscular dystrophy (MD) research being supported by federal agencies and advocacy groups in addition to the National Institutes of Health (NIH). Dr. Katz acknowledged that much of the information presented at this meeting would be focused on Duchenne muscular dystrophy (DMD). However he suggested that at future meetings, other forms of MD will be highlighted. He then asked those present to introduce themselves.

    Dr. Rieff reviewed the code of ethics considerations as well as the recusal policies and procedures.

    Dr. Katz and Dr. Story Landis, Director, NINDS, made the following introductions to the Committee: Dr. John Porter was recently hired as Program Director of Neuromuscular Disease in the Channels, Synapses and Circuits Cluster at the NINDS. Dr. Glen Nuckolls has been appointed Program Director of the Muscle Disorders and Therapies Program, Muscle Biology Branch at the NIAMS. Dr. Nuckolls previously served in the Intramural Research Program at NIAMS.

    Dr. Katz noted that the NIH Muscular Dystrophy Research and Education Plan had been developed in one year, as requested by Congressional language. The development of the Plan was the initial focus of the MDCC. He also noted that the Plan was created to serve as an example of the state-of-the-science of MD research at the NIH. He suggested that the NIH would now be seeking input from other agencies as it moves into an implementation phase.

    Dr. Rieff noted that new definitions for the muscular dystrophies have been developed by the NIH. This process was completed in order to create a common set of definitions for program staff at the NIH to use when coding MD-related research projects. The new definitions were to be shared with the Committee after the meeting via email. Committee members were encouraged to provide comments.

  2. Status of Implementation of MD Research and Education Plan

    The meeting was then turned over to Dr. Porter. He provided a portfolio analysis of current MD research activities at the NIH. This analysis also identified existing gaps in research at the NIH. Twelve NIH Institutes were identified as having MD-related research. Approximately 164 grants/contracts qualified for inclusion. Dr. Porter noted that a grant could be included in more than one category.

    Dr. Porter identified five broad categories of research corresponding to the priority areas identified in the MD Research and Education Plan: understanding mechanisms of disease; screening/diagnosis; treatment strategies; living with MD (including rehabilitation, quality-of-life, and psychosocial issues); and research infrastructure needs. Eighty-seven projects were related to understanding the mechanisms of disease. In general, these projects focus on mechanisms downstream from genetic defects. In recent years, the NIH has made significant progress in understanding the mechanistic factors involved in the muscular dystrophies but additional research is needed to understand the pathologies unique to each type of MD, as well as disease modifiers.

    In the area of screening/diagnosis, Dr. Porter identified nine projects. Current research is examining newborn screening strategies, improved molecular diagnostics, the natural history of disease, and the development of comprehensive clinical data sets. Most of these grants are focused on positional cloning. Dr. Porter highlighted one particular grant that is currently supported by the National Institute of Diabetes, Digestive, and Kidney Disorders (NIDDK) which is using a multiplex approach to rapidly detect genetic mutations.

    Current research exploring potential intervention strategies is the second largest area of investment in MD-related research at the NIH. Progress has been made in developing appropriate viral vectors for gene therapy, stem cell approaches, and other cell-based therapies such as replacing myoblasts with competent cells for treating MD. Current research gaps include the development of drug-based therapies and examining complications and/or comorbidities of MD. Eighty-one projects were included in this category.

    In the area of research exploring the quality-of-life of patients living with MD, Dr. Porter highlighted three grants which were examining the extent of cognitive involvement in MD, rehabilitation challenges, and improved quality-of-life measures.

    The development of research infrastructure is a major area of emphasis in the MD Research and Education Plan. Research infrastructure includes access to resources for researchers around the world. The NIH is supporting 34 grants in this area. Dr. Porter highlighted the creation of the Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Centers, which were supplemented by the Muscular Dystrophy Association (MDA). Improved research infrastructure would provide researchers with resources such as new animal models, while creating support services for patients and their families. Dr. Porter noted that areas of need included the development of large animal models, training for new and current investigators, as well as improved communication and data sharing.

    In conclusion, Dr. Porter noted that many of the areas highlighted in the MD Research and Education Plan are being addressed through NIH research and that targeted NIH initiatives could facilitate progress. It was emphasized that the MDCC Research and Education Plan is designed to set targets for the full scope of issues in muscular dystrophy. Some areas not traditionally within the scope of the NIH are strengths of the other agencies and organizations that comprise the MDCC. Thus, the MDCC could greatly serve the MD community through the identification and coordination of research efforts among public and private organizations, including mechanisms other than NIH funding.

    Dr. Landis mentioned at the end of Dr. Porter's presentation that information from other public and private organizations could be included in future analyses. This would facilitate the coordination of research activities across agencies.

    Dr. Merle McPherson, Director, Division of Services for Children with Special Health Needs, Health Resources and Services Administration, asked whether or not the Committee was looking beyond research-based initiatives. Her organization could provide information related to access to services, which would be valuable information for patients and their families. Dr. Katz mentioned that the focus of the MD Research and Education Plan is on research, but other related areas are of interest as well. He encouraged input from a variety of agencies in order to see what is being studied. Ms. Patricia Furlong, President, Parent Project Muscular Dystrophy, noted that information on insurance issues would also be valuable.

    Mr. Dan Perez, President and Chief Executive Officer, Facioscapulohumeral Society, Inc., asked how many of the grants included in the analysis were generated by a request for applications (RFA). Dr. Porter noted that the analysis was developed to look at the research needs and gaps, and that the analysis did include grants submitted in response to RFAs and other funding mechanisms. Dr. Porter agreed that further analysis of the effectiveness of the RFAs and other grant mechanisms needs to be completed. Dr. Katz added that it is also important to examine how these projects are moving MD research forward.

    The meeting was then turned over to Dr. Nuckolls. He presented a brief history of the solicitations that have been developed by the NIH. One solicitation, Exploratory Research on Facioscapulohumeral Dystrophy (FSHD), focused on the R21 funding mechanism. Dr. Katz noted that this purpose of this mechanism is to encourage exploratory research to foster new research ideas. Dr. Katz asked how many of the R21s awarded in response to this solicitation have developed into full applications, or R01s. Dr. Nuckolls noted that the NIH has been getting applications from the same researchers but the research may not be focused on the same area as the R21s. Mr. Perez noted that two of the six applications have been funded as R01s.

    Dr. Nuckolls noted that four Institutes have been involved in the development of previously released and new solicitations at the NIH, including: the NIAMS, the NINDS, the National Institute of Child Health and Human Development (NICHD), and the National Heart, Lung, and Blood Institute (NHLBI).

    Of the new solicitations being developed, two program announcements (PAs) have been created to help foster the development of the investigator pipeline. These solicitations include training grants for predoctoral fellows, postdoctoral fellows, and senior fellows. Also included are career development grants for mentored basic and clinical researchers, newly independent scientists, and mid-career clinical investigators who are serving as mentors to young investigators. Dr. Katz noted that one of the biggest challenges is informing the community about the funding opportunities. He emphasized the role of voluntary and professional organizations in disseminating this information.

    Several solicitations are being released again, either in a new format or as previously presented. Dr. Nuckolls noted that the Muscular Dystrophy: Pathogenesis and Therapies PA will be released for the third time. This solicitation is designed to support individual research programs contained within one lab which includes between 3-8 researchers.

    The Senator Paul D. Wellstone MD Cooperative Research Centers RFA was also reissued. Mr. David Heil, Chief of Staff, Congressman Randy "Duke" Cunningham's office, asked about the timeframe of the awards for new Wellstone Research Centers. Dr. Nuckolls noted that the review was scheduled for December 9-10, 2004, and he anticipated delivery of the applications to the respective Institute Council meetings for their review in January or February. The actual timeline for award depends on the extent of the review process. Dr. Katz also noted that the funding level for the new Wellstone Research Centers is up to $1 million direct costs. Dr. Sharon Hesterlee, Director of Research and Development, MDA, said the MDA would not be providing supplemental funds for this additional round of Wellstone Research Centers.

    Mr. Perez asked if larger financial commitments could be made to high risk research areas. Dr. Katz noted that the NIH has processes in place to stimulate high risk research such as the R21 mechanism.

  3. Plans for Burden of Muscle Disease Conference - January 26-27, 2005

    The meeting was then turned over to Dr. Richard Lymn of the Muscle Biology Branch at the NIAMS. Dr. Lymn presented information on the upcoming Workshop on Burden of Muscle Diseases which is scheduled for January 26-27, 2005, in Bethesda, MD. In addition to muscle biology researchers, health economists and epidemiologists will be in attendance. Dr. Katz noted that although this meeting was facilitated through the NIH, the involvement and input from other agencies has been critical.

    Dr. Lymn noted that the muscular dystrophies will be a focus of this meeting. The primary goals of the workshop are 1) to determine the components that need to be included within the totality of the burden of muscle disease, and 2) to assess the available data and data collection instruments relative to these components.

    Mr. Perez asked why the workshop seems to be focused on DMD, rather than broadly addressing all muscular dystrophies. Dr. Giovanna Spinella, Director of Extramural Research at the NIH Office of Rare Diseases (ORD), noted that her organization is trying to support more meetings where rare diseases are addressed. She emphasized that interest in rare diseases can add insight into larger disease groups and vice versa. Mr. Donovan Decker, patient advocate and MDCC member, emphasized that the new Wellstone Research Centers, regardless of disease focus, will help everyone because research in one area will help expand the broader field of muscular dystrophy.

    Mr. Perez also asked why the Centers for Disease Control and Prevention (CDC) only supports research on DMD. In response, Dr. Aileen Kenneson, of the National Center on Birth Defects and Developmental Disabilities at the CDC, noted that the CDC receives earmarked dollars from Congress and the CDC was directed to investigate Duchenne and Becker MD. However, she noted that the infrastructure that is being developed through CDC initiatives could serve as a starting point for the addition of other muscular dystrophies at a later date.

  4. Presentations from the Centers for Disease Control and Prevention

    Dr. Aileen Kenneson provided the Committee with an overview of CDC activities related to muscular dystrophy. She made the point that CDC was initially focused on Duchenne and Becker MD due to their Congressional mandate, but suggested that knowledge gained from these activities may be applicable to other forms. Dr. Kenneson introduced the Muscular Dystrophy Surveillance Tracking and Research Network, or MD STARnet, which aims to identify all Duchenne and Becker MD patients in the coverage areas of Arizona, Colorado, Iowa, and western New York state and to extract data from their medical records and patient and family interviews. She noted that this project was relevant to each of the five major categories identified in the MD Research and Education Plan.

    Dr. Kenneson also presented updates on two projects funded by the CDC to assess the needs of families affected by MD. The National Initiative for Families with Duchenne (NIFD) is a survey project with researchers at the Children's National Medical Center in Washington, DC. Researchers will ask parents of children with MD about quality-of-life issues, their service needs, barriers to receiving those services, and their feelings about newborn screening for MD. The Needs of Families and Patients with Muscular Dystrophy (NFPMD) project is a small scale, qualitative study by researchers at the University of Iowa who are interviewing families affected by MD in order to identify their needs.

    Dr. Kenneson went on to describe other ongoing CDC programs related to MD, including Palliative Care and Hospice Needs of Families With Children Who Have DMD, Health Care Issues for Hispanic Families with DMD, and Cardiac Health in Female Carriers of DMD. She also highlighted CDC activities on newborn screening for DMD, including the formation of the Newborn Screening for DMD Workgroup and two pilot programs at the Children's Research Institute in Ohio and Emory University for Early Screening and Diagnosis of DMD. Dr. Kenneson pointed out that because DMD has no proven early treatment, it is not currently included in newborn screening. One pilot study will screen infants at birth at the hospital, while the second study will screen infants through their pediatrician (6-12 months old).

    Dr. Katz opened the floor for discussion of the pros and cons of screening programs. Dr. Jim Hanson of NICHD made the point that creatinephosphokinase (CPK) screening has limitations due to many false positives. DNA chip technologies or proteomic techniques may be more effective but expensive. Mr. Perez asked whether the CDC was considering prenatal screening. Dr. Kenneson replied that because so many patients are born with no family history and there is no technology currently available, the programs focus on newborn and infant screening.

    The meeting was then turned over to Dr. Chris Cunniff of the University of Arizona who presented the Committee with a detailed description of the CDC's MD STARnet program, which aims to identify all Duchenne and Becker MD patients in the coverage areas of Arizona, Colorado, Iowa, and western New York state and to extract data from their medical records and patient and family interviews. Dr. Cunniff noted that the study population was defined as patients with Duchenne or Becker MD from birth to 21 years old residing within the coverage area. Dr. Cunniff described the sources of data for the study and the definitions of probable and possible cases based on diagnosis criteria. Once case status is confirmed by a Clinician Review Committee, a laptop data extraction tool is used to extract demographic, disease progression and treatment data from medical records at the clinic or hospital. Dr. Cunniff reported that data abstraction is ongoing and is complete for approximately 40% of projected cases. The individualized, de-identified data is being pooled into a database.

    Dr. Katz asked about the Health Insurance Portability and Accountability Act (HIPAA) waiver and/or statutory authority required from the Institutional Review Board (IRB) to collect such data. Drs. Hanson and Brann suggested that there was a HIPAA exemption for public health studies. Dr. Cunniff replied that because the CDC study was being performed by university scientists and not public health officials, that some states did not grant the exemption. Dr. Landis commented that such barriers to medical research are an "unintended consequence" of the HIPAA law. Dr. Patricia Morrissey, Commissioner of the Administration on Developmental Disabilities of the Department of Health and Human Services, noted that the Family Educational Rights and Privacy Act (FERPA) has even fewer exceptions and makes access to educational records for research purposes extremely difficult. Mr. Perez stated that these privacy and research material ownership issues are very important to the MDCC.

    Dr. Cunniff then continued by describing the family interview process which will be used to collect additional data on the diagnostic process, disease course, and potential barriers to treatment. Dr. Cunniff described the types of analysis that should come out of MD STARnet, including epidemiologic, clinical course, and association analyses. Dr. Katz mentioned that this data could be relevant to the development of new, more tailored therapeutics. Dr. Cunniff stated that he hoped that the MD STARnet data extraction tool and platform would be useful to other disease researchers. Dr. Morrissey brought up the issue of possible cultural differences among participants, such as Hispanic families. Dr. Cunniff responded that he hoped for adequate participation from Hispanic families in the interview, but that the medical record data would be extracted in any case and therefore any cultural differences would hopefully be evident.

    Dr. Perez asked how the MD STARnet could be helpful to patients with other forms of MD. Dr. Cunniff made the point that development of a study like MD STARnet was not trivial and that the infrastructure is applicable to other diseases. Mr. Perez asked if the MDCC could request an expansion of the study. The response was that a request could be made to Congress since the scope of CDC projects is mandated by Congress. Dr. McPherson made the point that translating specialized medical knowledge into the practice of medicine is a challenge because the health service delivery system is imperfect. Dr. Katz stated that representation and service delivery were very important and suggested that these issues beyond medical research be topics of discussion at future MDCC meetings. Dr. Katz also stated in response to Mr. Perez's request that the MDCC request an expansion of the CDC study, that the MDCC is limited to identification of needs and priorities and could include such statements in its annual report.

    Dr. Katz then opened the meeting up for general discussion. Mr. Bradley Stephenson, patient advocate and MDCC member, shared his personal experience with cardiac complications as a patient with Becker MD. He spoke with cardiologist Dr. Elizabeth McNally who recommended a cardiac evaluation. He has been put on an ACE inhibitor and has experienced extremely positive results. He worries that other MD patients are not aware of potential cardiac complications and would like to help raise awareness. Dr. John Fakunding of the NHLBI stated that the NHLBI is very cognizant of this issue. NHLBI has a working group on cardiomyopathies comorbid with rare diseases. Dr. Porter added that in his NIH-wide MD portfolio analysis, NHLBI had a substantial MD program, including stem cell, outcome, and imaging studies. Ms. Furlong said that her group periodically sponsors workshops on cardiac complications. She emphasized that an evidence base is needed to convince physicians to discuss these issues with MD patients. Dr. Landis asked whether there were sessions on MD-related cardiomyopathies at national cardiology meetings and suggested further interactions between neurologists and cardiologists.

    There was a brief break, then a working lunch.

  5. Presentation from Department of Defense

    Colonel Kenneth Bertram from the United States Army Medical Research and Materiel Command (USAMRMC) Congressionally Directed Medical Research Programs (CDMRP) presented an overview of the Department of Defense (DOD) Muscular Dystrophy Research Program. He began with an overview of the USAMRMC and its core capabilities, including medical research and development, advanced technologies, logistics and acquisition management, information management and technology, and Congressional programs. Because DOD-funded research on issues relevant to the military includes basic research, development, commercialization and use, the DOD program can be viewed as a good example of a translational research program.

    Col. Bertram described the history and features of the CDMRP program. He explained that the program began in the mid-1990's with Congressional appropriations to the DOD budget for breast cancer research. He described how funds are appropriated yearly by Congress for targeted research. Col. Bertram stated that consumers and advocates play a role in determining the agenda through Congressional appropriations and that individual project proposals pass through a peer review process. He emphasized that projects are often translational and collaborative.

    Col. Bertram went on to describe the interests of the DOD in muscle research, including injury prevention, performance enhancement, trauma, muscle repair and rehabilitation. He outlined two distinct programs in muscle research. Some projects are funded through a peer reviewed medical research program based on scientific merit and military relevance and there is an additional MD research program established in FY 2003 which devotes $3.4 million to MD and is administered by the CDMRP.

    Col. Bertram then gave details of the FY 2003 and FY 2004 muscle disease research programs and described how the projects address the 5 broad headings of the MDCC Research and Education Plan. He then gave an update on the FY 2005 DOD muscle research programs, including $2.5 million appropriated for "Muscular Dystrophy Research", $3.5 million for "Muscle Research Consortium", and the peer reviewed medical research program. He concluded by providing contact information and introducing Lt. Col. Calvin Carpenter, who is the program manager for the muscle disease research programs.

    Dr. Hanson asked about the concept of a "virtual Naval hospital" and whether it was in use in other branches of the military. Col. Bertram explained that DOD was very interested in developing a paperless, portable medical records system that could follow a soldier from the field to the hospital and back again, and follow him/her through retirement. Mr. Perez asked about specific results that may be of use to civilians. Col. Bertram described nutritional studies for muscle development and studies on damage and repair of muscle tissue. He added that most of the data has been published and is publicly available. Dr. Katz asked about the balance in DOD research between basic science and translational research. Col. Bertram responded that the DOD tries to support both by encouraging basic researchers to think about applications and outcomes of their research.

    Dr. Duane Alexander, Director of the NICHD, asked whether the DOD uses grants or contracts to fund research. Col. Bertram responded that most are cooperative agreements or grants, but that the military system is usually contract-based. Dr. Alexander asked about the process for publicizing and soliciting proposals. Col. Bertram responded that there is a constantly open program announcement and that applicants go through a review process that lasts approximately eight months. Dr. Landis commented that many DOD grantees would not be characterized as new investigators because they often have R01 grants from the NIH. Mr. Decker asked whether the DOD has conducted any large animal studies on MD. Col. Bertram responded that so far, animal studies had only been performed in mouse models.

  6. North American Clinical Research Network

    Dr. Sharon Hesterlee of the MDA (by telephone) provided the Committee with an update on the purpose of the MDA's network, which is aimed at establishing the research infrastructure for a translational research program that will identify and resolve roadblocks in getting research results into clinical practice. She said that in establishing the network, they are emphasizing economies of scale, shared resources and consistent data endpoints. Dr. Katz added that other benefits include shared data and informatics. The Clinical Trial Network of the Children's Oncology Group was identified as a good example of an existing network in which the sites work well together.

    The North American Clinical Research Network will begin by focusing on DMD, as agreed by the MDA at its June 2004 meeting, but it was also acknowledged that it could be expanded later to include work on other muscular dystrophies. Dr. Katz asked whether the MDA had been aware of the NIH Director's Roadmap efforts, particularly those pertaining to clinical research and informatics, and Dr. Hesterlee assured him that no wheels need be reinvented. At the June meeting, working groups were also formed to develop a list of research questions and needs. For example, in the area of therapeutics, there is an identified need to define the patient populations. Finally, instead of a formalized clinical trial network structure, the group agreed to form a steering committee that will serve as the coordinating body for the network.

    Dr. Katz pointed out that since the field is relatively small, many of the same people may be NIH grantees (via the Wellstone Research Centers) and part of this network. Dr. Hesterlee responded by saying that the MDA doesn't want ownership of the research, but rather to jumpstart small groups, naming one, "PROD: Promoting Research on Dystrophy."

    A brief discussion about training followed. Dr. Hesterlee said that MDA awards would be aimed at postdoctoral fellows and that MDA has just initiated a clinical research training grant. Dr. Katz mentioned the NIH K23 awards as one type of mentored training award. Dr. Nuckolls confirmed that the PA for these awards would be issued very soon. So far, the applicants for the MDA-sponsored awards have been mostly neurologists who are learning to conduct clinical research. Dr. Hanson suggested that pediatric departments are also aware of these opportunities. Although medical schools have not yet been targeted, Dr. Katz urged MDA to consider doing so, since it is critical to encourage medical students to consider careers in research. Mr. Perez also urged the MDA to consider expanding projects from DMD to include other forms of MD, such as FSHD, as well.

  7. Next Steps/Strategies for Implementation

    Dr. John Porter began the discussion by briefly reviewing the mission of the MDCC and the MD Research and Education Plan. He suggested that the MDCC should use the Plan and its five broad objectives as an initial framework. Dr. Porter put forth the proposal that the MDCC appoint a Scientific Working Group to evaluate and refine the current research and education plan and to prioritize specific aims for the MD research community. He stressed that the Scientific Working Group should include representatives from all stakeholder groups and would seek advice from the MDCC about who to include.

    A brief discussion followed concerning efforts to coordinate activities among agencies by increased communication at the program level, even if informal. The matrix developed to implement the Parkinson's Disease research plan might be considered as a model for identifying and evaluating research priorities. Drs. Katz and Landis agreed that increased discussion and portfolio analysis would be valuable. Dr. Katz cautioned that the only constraint for the NIH was that upcoming initiatives could only be described in general terms before their release. Dr. Katz summarized this portion of the discussion by agreeing to convene a working group that will perform a larger analysis of federal agency research activities. Drs. Porter and Nuckolls agreed to take the next steps toward forming the Scientific Working Group.

    Mr. Perez stated that FSHD and other muscular dystrophies have not seen progress similar to DMD, and urged the NIH to target what is now practicable. Dr. Katz encouraged him to recall Dr. Nuckolls' presentation, which include the PA and other activities (training) geared to all muscular dystrophies. Dr. Hesterlee agreed that "affirmative action" is needed for FSHD issues since they do not have a level playing field, but urged FSHD advocates to meet MDA half way. Dr. Landis mentioned the pilot clinical trials network, which is aimed at rare diseases, such as FSHD and myotonic dystrophy, and Dr. Katz referred to the new Wellstone Research Centers program, which is meant to provide research resources for the entire community. Dr. Audrey Penn of NINDS pointed out that we do not yet have a gene for FSHD, unlike DMD. Dr. Cheryl Kitt of NIAMS stated that while the FSHD research community is still quite small, NIH is working to move more junior investigators into the pipeline, primarily through the fellows program at the new Wellstone Research Centers.

    In response to an inquiry from Mr. Decker about MDA-sponsored gene therapy trials, Dr. Hesterlee said that the trials were scheduled to begin in late 2005; Phase I would involve DMD and Phase II would focus on limb-girdle MD.

    Mr. Heil (on behalf of himself and Rep. Cunningham) conveyed support for the work of the MDCC, and asked for information on the research resource cores. Dr. Katz explained that each of the Wellstone Research Centers is to serve as a resource for each other and the entire community. For example, the Seattle site provides gene therapy vectors, and the Rochester site is collecting tissues on myotonic dystrophy and FSHD. Dr. Landis said that this type of information will be included on the Wellstone Research Centers' websites.

    Mr. Heil also inquired about a novel mechanism that NINDS is using to support therapeutics development for Spinal Muscular Atrophy (SMA) which has been referred to as The SMA Project. Dr. Landis provided some information about the disease, which occurs in young children, and pointed out that SMA has a specific therapeutic target (boosting a second gene's protein level if the first gene fails). The SMA Project is a multi-year contract focused on the development of potential therapies for the disease up to and including testing in preclinical models. Dr. Landis emphasized that The SMA Project is an experiment in therapeutics development that may or may not be the most efficient means of accomplishing this goal. She stressed that the Wellstone Research Centers are an important vehicle for translational and clinical research in the field of muscular dystrophy.

  8. Adjournment

    The meeting was adjourned at approximately 3:20 pm.

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

    _______________/s/_____________________

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

    February 3, 2005

    Attendees

    Duane Alexander, NICHD, MDCC member
    Ken Bertram, DOD, MDCC member
    Ed Brann, CDC
    Calvin Carpenter, DOD
    Daofen Chen, NINDS
    Stephanie Clipper, NINDS
    Chris Cunniff, University of Arizona
    Donavon Decker, patient advocate, MDCC member
    John Fakunding, NHLBI
    Elizabeth Freedman, NIAMS
    Pat Furlong, patient advocate, MDCC member
    Nora Gardner, NINDS
    Jim Hanson, NICHD
    Dave Heil, Office of Rep. Cunningham
    Sharon Hesterlee, patient/professional advocate, MDA, MDCC member, by telephone
    Lisa Kaeser, NICHD
    Stephen Katz, NIAMS, MDCC chair
    Aileen Kenneson, CDC
    Cheryl Kitt, NIAMS
    Story Landis, NINDS, MDCC member
    Richard Lymn, NIAMS
    Merle McPherson, HRSA, MDCC member
    Patricia Morrissey, ADD, MCDD member
    Glen Nuckolls, NIAMS
    M. L. Oster Granite, NICHD
    Audrey Penn, NINDS
    Dan Perez, patient advocate, MDCC member, by telephone
    Wilma Peterman, NIAMS
    John Porter, NINDS
    Heather Rieff, NINDS, MDCC Executive Secretary
    Margaret Schaefer, ADD
    Giovanna Spinella, NIH ORD
    Bradley Stephenson, patient advocate, MDCC member
    Christina Vert, NINDS
    Mike Weinrich, NICHD
    Robert Zalutsky, NINDS

Last updated December 27, 2013