Accelerating Rare Diseases Research and Orphan Product Development

Type: Consensus Study
Topics: Biomedical and Health Research, Diseases, Quality and Patient Safety
Board: Board on Health Sciences Policy

Activity Description

In response to a request from the NIH Office of Rare Diseases and the FDA Office of Orphan Products Development, a committee of the IOM will 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:

  • Describes epidemiology and societal impact of rare diseases and provide an overview of current methods for their prevention, diagnosis, and treatment.
  • Describe the strengths and limitation of 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;
  • 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;

The report will also 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 partnershipsin 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;
  • developing research agendas and coordinating resources and development efforts throughout the product development pathways;
  • make recommendations for an integrated national rare disease policy on research and development, including responding to the proposals included in a white paper that will be prepared by the sponsors and provided to the committee approximately six months after the contract begins.

Study sponsors are the National Institutes of Health and the Food and Drug Administration. The start date was approximately September 29, 2008, and a final report will be issued approximately 24 months later.

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