A
Study Activities

During the summer of 2008, officials from the National Institutes of Health (NIH) and the Food and Drug Administration (FDA) approached the Institute of Medicine (IOM) about an examination of strategies for rare diseases research and orphan product development. Workshops organized by the IOM Forum on Drug Discovery, Development, and Translation in 2007 and 2008 had helped to sharpen ideas for an IOM study. As discussions progressed, the focus expanded beyond drugs and devices to include medical devices, including certain aspects of genetic tests. The charge to the IOM committee appointed to oversee the study was

To prepare a report that will assess existing strategies to promote research discoveries and development of orphan products to improve the health of people with rare diseases. To that end, the report will:

  1. Describe the epidemiology and societal impact of rare diseases and provide an overview of current methods for their prevention, diagnosis, and treatment.

  2. Describe the strengths and limitations of the current development pathways for new drugs, medical devices, and biologics for rare diseases (taking into account developments in genetic testing) and discuss the special challenges that rare diseases create for research and product regulation.

  3. Examine current public policies relevant to product development for rare diseases, including the Orphan Drug Act, the Humanitarian Use Device exemption, the approaches of the National Institutes of Health and the Food and Drug Administration, reimbursement policies, and other legislative and regulatory initiatives.



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A Study Activities During the summer of 2008, officials from the National Institutes of Health (NIH) and the Food and Drug Administration (FDA) approached the Institute of Medicine (IOM) about an examination of strategies for rare diseases research and orphan product development. Workshops organized by the IOM Forum on Drug Discovery, Development, and Translation in 2007 and 2008 had helped to sharpen ideas for an IOM study. As discus- sions progressed, the focus expanded beyond drugs and devices to include medical devices, including certain aspects of genetic tests. The charge to the IOM committee appointed to oversee the study was To prepare a report that will assess existing strategies to promote research discoveries and development of orphan products to improve the health of people with rare diseases. To that end, the report will: 1. Describe the epidemiology and societal impact of rare diseases and provide an overview of current methods for their prevention, diagnosis, and treatment. 2. Describe the strengths and limitations of the current development path- ways for new drugs, medical devices, and biologics for rare diseases (tak- ing into account developments in genetic testing) and discuss the special challenges that rare diseases create for research and product regulation. 3. Examine current public policies relevant to product development for rare diseases, including the Orphan Drug Act, the Humanitarian Use De- vice exemption, the approaches of the National Institutes of Health and the Food and Drug Administration, reimbursement policies, and other legislative and regulatory initiatives. 

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 RARE DISEASES AND ORPHAN PRODUCTS 4. Consider, as part of a national policy framework, a wide range of public and private strategies and innovations, such as: • enhancing multidisciplinary collaboration and government-university- industry partnerships in basic and translational research; • expanding public engagement and enhancing the roles of patient organizations; • facilitating research data and biomaterials collection and dissemination, including the use of bio-repositories and registries; • strengthening training of investigators; • disseminating information to clinicians, patients, and families; • revising policies and regulations; • encouraging alternative research financing mechanisms; and • developing research agendas and coordinating resources and develop- ment efforts throughout the product development pathways. 5. Make recommendations for an integrated national rare disease policy on research and development, including responding to the proposals in- cluded in a white paper that will be prepared by the sponsors and provided to the committee approximately six months after the contract begins. NIH and FDA concluded after further consideration that it was not feasible to present the white paper with proposals for the committee, but NIH and FDA staff made presentations to the committee and answered numerous committee questions. The committee reviewed a broad range of government, industry, and academic resources. It commissioned two back- ground papers that appear as Appendixes B and C. The study committee met five times between August 2009 and May 2010. Three of these meetings included public sessions during which the committee heard from a range of interested parties, including government officials, basic and clinical researchers, representatives of advocacy groups that are engaged in supporting research and product development, and representatives of industry trade associations and individual companies in- volved in developing drugs and devices. (The agendas for the public sessions follow this overview of study activities.) The committee also worked with the National Organization for Rare Disorders and the Genetic Alliance to solicit views from member organizations that are involved in research. (A list of organizations that submitted written statements follows the Novem- ber meeting agenda below.)

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 APPENDIX A INSTITUTE OF MEDICINE COMMITTEE ON ACCELERATING RARE DISEASES RESEARCH AND ORPHAN PRODUCT DEVELOPMENT Room 204, Keck Center of the National Academies 500 Fifth Street, N.W., Washington, DC August 12, 2009—Open Session 2:00 Welcome and introductions Thomas Boat, M.D., Committee Chair Sponsor objectives for study Stephen Groft, Pharm.D, Director, NIH Office of Rare Diseases Research Timothy R. Coté, M.D., M.P.H., Director, FDA Office of Orphan Products Development 3:00 Break 3:15 Discussion of background paper prepared by NIH and FDA Stephen Groft, Pharm.D., Director, NIH Office of Rare Diseases Research Timothy R. Coté, M.D., M.P.H., Director, FDA Office of Orphan Products Development 4:30 Adjourn open session INSTITUTE OF MEDICINE COMMITTEE ON ACCELERATING RARE DISEASES RESEARCH AND ORPHAN PRODUCT DEVELOPMENT Lecture Room, National Academy of Sciences Building 2101 C Street, N.W., Washington, DC November 23, 2009—Open Session 8:20 Welcome and introductions Thomas Boat, M.D., Committee Chair 8:30 Panel 1 National Organization for Rare Disorders Wayne Pines, Consultant

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 RARE DISEASES AND ORPHAN PRODUCTS Genetic Alliance Sharon F. Terry, President and Chief Executive Officer Discussion 9:10 Panel 2 Cystic Fibrosis Foundation Therapeutics, Inc. Diana R. Wetmore, Ph.D., Vice President of Alliance Management Multiple Myeloma Research Foundation and Multiple Myeloma Research Consortium Susan Kelley, M.D., Chief Medical Officer Friedreich’s Ataxia Research Alliance Jennifer Farmer, M.S., Executive Director Fanconi Anemia Research Fund (by phone) Dave Frohnmayer, J.D., Co-founder and Board Vice President; Lynn Frohnmayer, M.S.W., Co-founder and Advisor to the Board 10:10 Break 10:30 Discussion before and after break 11:00 Panel 3 Pharmaceutical Research and Manufacturers Association (PhRMA) Alan Goldhammer, Ph.D., Vice President Scientific and Regulatory Affairs Advanced Medical Technology Association (AdvaMed) Susan Alpert, Ph.D., M.D., Senior Vice President, Global Regulatory Affairs, Medtronic, Inc. Biotechnology Industry Organization (BIO) Sara Radcliffe, M.P.H., Acting Executive Vice President, Health, and Vice President for Science and Regulatory Affairs Discussion Noon Working lunch for committee and speakers and other invited guests 1:00 Panel 4 Mark L. Batshaw, M.D.

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 APPENDIX A Principal Investigator, Urea Cycle Disorders Consortium (NIH Rare Diseases Clinical Research Network); Chief Academic Officer, Children’s National Medical Center; Chairman of Pediatrics and Associate Dean for Academic Affairs, George Washington University School of Medicine and Health Sciences Frederick Kaplan, M.D. Isaac & Rose Nassau Professor of Orthopaedic Molecular Medicine; Director, Center for Research in FOP (Fibrodysplasia Ossificans Progressiva) & Related Disorders, University of Pennsylvania School of Medicine Alan K. Percy, M.D. Principal Investigator, Angelman, Rett, and Prader-Willi Syndromes Consortium (NIH Rare Diseases Clinical Research Network); Medical Director, Civitan International Research Center; Professor of Pediatric Neurology, University of Alabama at Birmingham Discussion 2:20 Open discussion 2:45 Adjourn open session Organizations submitting written statements to the committee In addition to the organizations presenting statements during the Novem- ber meeting, the committee worked with the Genetic Alliance and the Na- tional Organization for Rare Disorders to solicit views from their members on issues before the committee. The following organizations responded: American Partnership for Eosinophilic Disorders Brown-Vialetto-Van Laere International Children’s Tumor Foundation FRAXA Research Foundation (Fragile X) Genetic Alliance BioBank International Rett Syndrome Foundation NBIA Disorder Association (Neurodegeneration with Brain Iron Accumulation) Pancreatic Cancer Action Network

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 RARE DISEASES AND ORPHAN PRODUCTS INSTITUTE OF MEDICINE COMMITTEE ON ACCELERATING RARE DISEASES RESEARCH AND ORPHAN PRODUCT DEVELOPMENT Lecture Room, National Academy of Sciences Building 2101 C Street, N.W., Washington, DC February 4, 2010—Open Session 8:30 Welcome and introductions Thomas F. Boat, M.D., Chair Melissa Ashlock, M.D. Senior Consultant, Therapeutics for Rare and Neglected Diseases Program, National Institutes of Health Discussion 9:00 Update from FDA Debra Lewis, O.D., M.B.A. Associate Director, Office of Orphan Products Development, FDA Introduction to Humanitarian Device Exemption (HDE) Process Debra Lewis, O.D., M.B.A. One Company’s Experiences and Perspectives with the HDE Process Nancy Hill Vice President, Marketing and Business Development, Spirations, Inc. Discussion 10:10 Break 10:30 Environment for Orphan Drug Development Bernard Munos, M.B.A., Ph.D. Advisor, Corporate Strategy, Eli Lilly and Company Emil D. Kakkis, M.D., Ph.D. President, Kakkis EveryLife Foundation Discussion

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 APPENDIX A 11:30 Advances in Biomedicine: Exome Sequencing and Rare Diseases Holly K. Tabor, Ph.D. Assistant Professor, Treuman Katz Center for Pediatric Bioethics and Department of Pediatrics, University of Washington School of Medicine Discussion Noon Working lunch for committee and speakers and other invited guests Update from NIH Stephen Groft, Pharm.D. Director, Office of Rare Diseases Research, NIH 1:00 Translational and Clinical Research for Rare Diseases and Orphan Products Christopher P. Austin, M.D. Director, Chemical Genomics Center; Senior Advisor to the Director for Translational Research, National Human Genome Research Institute Anne Pariser, M.D. Medical Team Leader, Division of Gastroenterology Products and Inborn Errors of Metabolism, Center for Drug Evaluation and Research, U.S. Food and Drug Administration Discussion 2:00 Trial Design, Biomarkers, and Other Issues in Clinical Research for Rare Diseases and Orphan Products William A. Gahl, M.D., Ph.D. Clinical Director, National Human Genome Research Institute; Director, NIH Undiagnosed Diseases Program Jennifer Van Eyk, Ph.D. Professor of Medicine, Biological Chemistry, and Biomedical Engineering; Director, Johns Hopkins Bayview Proteomics Center, Johns Hopkins School of Medicine Discussion 3:15 Open discussion 3:45 Adjourn open session

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