107th Congress

Senate Appropriations Subcommittee on Labor, HHS, and Education -- Muscular Dystrophy -- February 27, 2001

Members Present

Senators Arlen Specter (R-PA), Chairman, and Larry Craig (R-ID). Also attending was Senator Paul Wellstone (D-MN), who is not a committee member.

Witnesses

Panel I: Audrey S. Penn, M.D., Acting Director, National Institute of Neurological Disorders and Stroke, NIH.

Panel II: Lee Sweeney, Ph.D., Scientific Director for the Parent Project Muscular Dystrophy, and Leon Charash, M.D., Chairman, Medical Advisory Committee, Muscular Dystrophy Association (MDA).

Panel III: Donovon Decker, Limb-Girdle Muscular Dystrophy Patient; Chris Rosa, Ph.D., Member Muscular Dystrophy Association Board of Directors and President's Committee on Employment of People with Disabilities; Pat Furlong, President, Parent Project Muscular Dystrophy; Jerry Lewis, International Entertainer and National Chairman of the MDA; Benjamin Cumbo, Muscular Dystrophy Association's National Goodwill Ambassador.

Issues Discussed: Level of NIH funding; seriousness and impact of the muscular dystrophies; next steps. Senator Specter opened this very well-attended hearing by describing it as one in a series of hearings on "particularly distressing diseases." It was requested by the Parent Project for Muscular Dystrophy. Mr. Specter noted that his committee had led the effort to double the NIH budget and would be pushing for an additional $3.6 billion this year. He reiterated a favorite description of NIH as "a jewel in the crown of government--perhaps the only jewel." He also referred to his continuing efforts to promote research on stem cells, citing the seven hearings already held, and noting that stem cells may be useful for treating MD.

Panel I: Dr. Penn provided an overview of the various types of MD, including the symptoms and the current status of treatment. She noted that no form of MD has yet been cured. The lethal Duchenne form, a major focus of the hearing, is particularly difficult to treat given the size of the gene and the complexity of the protein it produces. Dr. Penn described the recent initiatives and workshops sponsored by NINDS and NIAMS and the importance of collaboration with patient advocacy groups in those and other efforts. Her written statement is online at http://www.ninds.nih.gov/about_ninds/md_testimony.htm.

Senator Specter questioned Dr. Penn about increases for MD research as compared to overall NINDS and NIH increases and pressed for details about whether funding was adequate. Dr. Penn replied that while there is always more that can be done, the current level of funding and the interest of the research community are very encouraging. In response to a follow-up question, she described the prospects for a cure as excellent, given the level of energy and opportunities, but noted that if it were easy it would already have been done. She cited the immune response to vectors and the protein as particularly vexing problems. Senator Specter asked if stem cell research held promise, and Dr. Penn pointed to studies of myoblasts and muscle satellite cells as examples of approaches involving stem cells or a close approximation. Senator Wellstone concluded this panel by remarking that citizen lobbying efforts are important and it would be tragic not to go forward with stem cell research.

Panel II: Dr. Sweeney indicated that many of his points had already been covered by Dr. Penn. He noted that while most people think of Duchenne muscular dystrophy, there are many forms and there is no definitive treatment for any of them. He said there has been little Federally funded research, and what there is has not kept pace with overall budget increases. He criticized the NIH review process in his statement and in the responses to many questions, saying there was no satisfactory home for muscle research at NIH. Senator Specter commented that Sweeney's remarks seemed to be a severe indictment and that NIH may not be doing its job. He asked Dr. Penn is there was any merit to Dr. Sweeney's criticisms, to which she replied that more good investigators could be working in the field. Senator Specter asked why this work is not going on now, if the gene was discovered in 1987. Dr. Penn noted that the size of the gene has presented substantial problems, but agreed NIH perhaps could have done more to promote research and has been much more active in the past year, notably with the workshop on Duchenne MD. Dr. Penn acknowledged there have been problems with review of applications and noted there would be a meeting with the Center for Scientific Review in March to discuss review issues. The Chairman said that Dr. Penn's comments were too general; Congress has provided generous funding and wants to see results. He wants Dr. Penn to meet with Dr. Sweeney and committee staff to discuss next steps.

Dr. Leon Charash cited the services provided by MDA clinics since 1950 and suggested that earlier statements about inadequate patient treatment may be overstated. Noting that the field has been successful in elucidating muscle biology and finding genes, he called for new efforts to translate this knowledge to better treatments. In his view, muscle disease is a model for treating all genetic disease, given the size and accessibility of muscle and its presence throughout the body. He would like to see NIH set up treatment protocols with satellite institutions participating. Senator Wellstone asked if there is a problem with invisibility of MD or with the small size of the patient population. Dr. Sweeney replied that the disease is well-known; again, he cited the "vagaries of review" as impeding progress and said there is no good home for muscle disease research at NIH. Dr. Charash urged establishment of a task force funded by NIH to translate what we know into treatments. Dr. Sweeney agreed that some initial targeted funding would help, but reiterated that the long-term solution lies in fixing review. He endorsed the creation of centers to promote rapid translational research, as provided in H.R. 717, the Duchenne Muscular Dystrophy Childhood Assistance, Research and Education Amendments of 2001, or the DMD CARE Act.

(H.R. 717 would: 1) mandate that the NIH Director, in coordination with the Directors of NINDS, NIAMS, and NICHD, expand and intensify programs with respect to research and related activities concerning Duchenne muscular dystrophy, 2) create a Muscular Dystrophy Interagency CoORDinating Committee at NIH, 3) require the establishment of not less than three centers of excellence, 4) establish a program under which samples of tissues and genetic materials that are of use in research on Duchenne muscular dystrophy are donated, collected, preserved, and made available for such research, 5) require the Secretary of HHS to establish a Muscular Dystrophy CoORDinating Committee, 6) require the Muscular Dystrophy CoORDinating Committee to develop a plan for conducting and supporting research and education on Duchenne muscular dystrophy through the national research institutes, 7) require the Muscular Dystrophy CoORDinating Committee to submit a biennial report to Congress describing research activities, and 8) require the Director of NIH to provide a means of public input on existing and planned Duchenne muscular dystrophy research activities. H.R.717 has over 90 cosponsors and was referred to the House Committee on Energy and Commerce.)

Chairman Specter again expressed his displeasure at the slow pace of MD research and invited Dr. Charash to join Drs. Penn and Sweeney in discussing future steps, noting that while Congress can't instruct scientists, other scientists can.

Panel III: Patients and advocates described the impact of muscular dystrophy and called for expanded funding. Donovon Decker, an air traffic controller who has limb girdle dystrophy, described his participation in the first gene therapy for a form of muscular dystrophy; he expect to learn soon which of his feet received a gene implant and which is the control. Pat Furlong is a nurse practitioner and educator and president of the Parent Project for Muscular Dystrophy. She also directs a youth performance group, Kids for Kids, dedicated to increasing awareness and raising funds for MD. She described the diagnosis and eventual death of her two sons who had Duchenne MD and called for a new commitment and increased funding ($100 million over five years.) Dr. Rosa, who has the Becker form of MD, praised the MDA for its role in MD research and also called for additional funding. In response to a question from Senator Wellstone, Ms. Furlong explained that the CDC centers called for in H.R. 717 would resolve outstanding questions about the prevalence of MD and the research centers the bill would direct NIH to establish would allow support for environments in which a critical mass of research capacity could be brought to bear on the disease. She also urged the development of standards of care for MD. (Editorial note: the American Academy of Neurology has taken steps in this direction.

Jerry Lewis and Benjamin Cumbo concluded the public testimony. Mr. Lewis described his 50-year efforts to combat MD. He also lauded the MDA but said it was now time for the government to augment funding so that new treatments could be evaluated, and he called for an increase of $100 million per year. He showed a video featuring Ben Cumba's family and their reaction to his diagnosis. Young Mr. Cumbo provoked chuckles from the committee and audience when he described himself as "just a regular 13-year-old guy trying to get a girlfriend" and hoping for a career in the military.

As noted, the hearing was heavily attended and members of the audience were vocal with applause and standing ovations for the advocates.