Excerpt

This Institute of Medicine (IOM) study grew out of discussions with the NIH Office of Rare Diseases Research and the FDA Office of Orphan Products Development about opportunities to accelerate rare diseases research and orphan product development. As discussions progressed, the focus expanded from drugs and biologics to include medical devices. In 2009, the IOM appointed a 14-person committee to oversee the study. Consistent with its charge (which is presented in full in Appendix A), the committee examined the epidemiology, impact, and treatment of rare diseases as context for an assessment of research and development; investigated the strengths and limitations of the current development pathways for new drugs, medical devices, and biologics for rare diseases; assessed public policies that may influence research and development decisions involving rare diseases and orphan products; and developed recommendations for an integrated national policy on rare diseases research and orphan product development.

This report presents the committee's conclusions and recommendations. It is written for a broad and diverse audience, including public officials in research and regulatory agencies; advocacy and philanthropic groups that support rare diseases research and orphan product development; companies that develop pharmaceutical, medical device, and biologic products; academic medical centers, research institutes, and researchers engaged in basic and clinical research; and the interested general public.

Contents

• The National Academies
• Committee on Accelerating Rare Diseases Research and Orphan Product Development
• Acknowledgments
• Reviewers
• Preface
• Summary
  • REGULATION OF DRUGS AND BIOLOGICS FOR RARE DISEASES
  • OPPORTUNITIES TO ACCELERATE DISCOVERY RESEARCH
  • DEVELOPMENT OF NEW DRUGS AND BIOLOGICS FOR RARE DISEASES
  • COVERAGE AND REIMBURSEMENT
  • MEDICAL DEVICES FOR SMALL POPULATIONS
  • INTEGRATING STRATEGIES FOR RARE DISEASES RESEARCH AND ORPHAN PRODUCT DEVELOPMENT
• 1. Introduction
  • OVERVIEW OF RARE DISEASES RESEARCH AND PRODUCT DEVELOPMENT: CHALLENGES AND OPPORTUNITIES
  • HISTORICAL AND POLICY CONTEXT
  • STUDY ORIGINS AND FOCUS
  • CONCEPTS AND DEFINITIONS
• 2. Profile of Rare Diseases
  • EPIDEMIOLOGY OF RARE DISEASES
  • CAUSES OF RARE DISEASES
  • PREVENTION, DIAGNOSIS, AND TREATMENT
  • IMPACT OF RARE DISEASES ON PATIENTS, FAMILIES, AND COMMUNITIES
• 3. Regulatory Framework for Drugs for Rare Diseases
  • GENERAL FRAMEWORK FOR THE REGULATION OF DRUGS AND BIOLOGICS
  • REGULATORY POLICY TO PROMOTE INNOVATION AND DEVELOPMENT OF ORPHAN DRUGS AND BIOLOGICS
  • FDA RESOURCES AND ORGANIZATION
  • RECOMMENDATIONS
• 4. Discovery Research for Rare Diseases and Orphan Product Development
  • TARGET DISCOVERY
  • THERAPEUTICS DISCOVERY
  • INFRASTRUCTURE FOR BASIC RESEARCH AND DRUG DISCOVERY FOR RARE DISEASES
  • INNOVATION PLATFORMS FOR TARGET AND DRUG DISCOVERY
  • RECOMMENDATIONS
• 5. Development of New Therapeutic Drugs and Biologics for Rare Diseases
  • PRECLINICAL DEVELOPMENT
  • PHASE I CLINICAL TRIALS: SAFETY
  • PHASE II CLINICAL TRIALS: PROOF OF CONCEPT OR EFFICACY
  • PHASE III CLINICAL TRIALS: REGULATORY PROOF
  • PHASE IV POSTMARKETING STUDIES
  • INFRASTRUCTURE FOR DRUG DEVELOPMENT
  • INNOVATION PLATFORMS FOR DRUG DEVELOPMENT
  • RECOMMENDATIONS
• 6. Coverage and Reimbursement: Incentives and Disincentives for Product Development
  • MEDICARE AND MEDICAID COVERAGE OF FDA-APPROVED DRUGS
  • PRIVATE HEALTH PLAN COVERAGE OF FDA-APPROVED DRUGS
  • OTHER MEANS OF FINANCIAL ACCESS TO ORPHAN DRUGS
  • PUBLIC AND PRIVATE HEALTH PLAN COVERAGE OF CERTAIN COSTS IN CLINICAL TRIALS
  • RECOMMENDATIONS
• 7. Medical Devices: Research and Development for Rare Diseases
  • DIFFERENCES BETWEEN MEDICAL DEVICES AND DRUGS
  • REGULATION OF MEDICAL DEVICES
  • COVERAGE AND REIMBURSEMENT FOR HDE MEDICAL DEVICES
  • MEDICAL DEVICE RESEARCH AND DEVELOPMENT
  • DEVICE INNOVATION AND THE HDE OPTION
  • RECOMMENDATIONS
• 8. Toward an Integrated Approach to Accelerating Research and Product Development for Rare Diseases
  • ELEMENTS OF AN INTEGRATED NATIONAL STRATEGY
  • RECOMMENDATION
• References
• Appendixes
  • A Study Activities
  • B Innovation and the Orphan Drug Act, 1983-2009: Regulatory and Clinical Characteristics of Approved Orphan Drugs
  • C Medicare Part D Coverage and Reimbursement of Orphan Drugs
  • D Glossary, Abbreviations, and Public Laws
  • E Rare Diseases Clinical Research Network
  • F Advocacy Group Approaches to Accelerating Research and Product Development: Illustrative Examples
  • G Committee and Staff Biographies

This study was supported by Contract No. N01-OD-4-2139, TO # 215 between the National Academy of Sciences and the National Institutes of Health. Additional support was provided by the Food and Drug Administration. Any opinions, findings, conclusions, or recommendations expressed in this publication are those of the authors and do not necessarily reflect the view of the organizations or agencies that provided support for the project.

Suggested citation:

IOM (Institute of Medicine). 2010. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington, DC: The National Academies Press.

NOTICE: The project that is the subject of this report was approved by the Governing Board of the National Research Council, whose members are drawn from the councils of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine. The members of the committee responsible for the report were chosen for their special competences and with regard for appropriate balance.