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National Academies Press


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Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.

Product Details

ISBN-13: 9780309158060
Publisher: National Academies Press
Publication date: 03/03/2011
Pages: 442
Sales rank: 985,772
Product dimensions: 6.00(w) x 9.00(h) x 1.10(d)

Table of Contents

Summary 1

1 Introduction 15

Overview of Rare Diseases Research and Product Development: Challenges and Opportunities 19

Historical and Policy Context 22

Study Origins and Focus 30

Concepts and Definitions 32

2 Profile of Rare Diseases 41

Epidemiology of Rare Diseases 43

Causes of Rare Diseases 51

Prevention, Diagnosis, and Treatment 55

Impact of Rare Diseases on Patients, Families, and Communities 69

3 Regulatory Framework for Drugs for Rare Diseases 73

General Framework for the Regulation of Drugs and Biologies 75

Regulatory Policy to Promote Innovation and Development of Orphan Drugs and Biologies 85

FDA Resources and Organization 101

Recommendations 105

4 Discovery Research for Rare Diseases and Orphan Product Development 111

Target Discovery 114

Therapeutics Discovery 118

Infrastructure for Basic Research and Drug Discovery for Diseases 125

Innovation Platforms for Target and Drug Discovery 137

Recommendations 142

5 Development of New Therapeutic Drugs and Biologics for Rare Diseases 147

Preclinical Development 149

Phase I Clinical Trials: Safety 152

Phase II Clinical Trials: Proof of Concept or Efficacy 154

Phase III Clinical Trials: Regulatory Proof 154

Phase IV Postmarketing Studies 156

Infrastructure for Drug Development 156

Innovation Platforms for Drug Development 165

Recommendations 173

6 Coverage and Reimbursement: Incentives and Disincentives for Product Development 179

Medicare and Medicaid Coverage of FDA-Approved Drugs 184

Private Health Plan Coverage of FDA-Approved Drugs 197

Other Means of Financial Access to Orphan Drugs 198

Public and Private Health Plan Coverage of Certain Costs in Clinical Trials 200

Recommendations 201

7 Medical Devices: Research and Development for Rare Diseases 205

Differences Between Medical Devices and Drugs 206

Regulation of Medical Devices 209

Coverage and Reimbursement for HDE Medical Devices 224

Medical Device Research and Development 225

Device Innovation and the HDE Option 234

Recommendations 237

8 Toward an Integrated Approach to Accelerating Research and Product Development for Rare Diseases 241

Elements of an Integrated National Strategy 242

Recommendation 246

References 249


A Study Activities 283

B Innovation and the Orphan Drug Act, 1983-2009: Regulatory and Clinical Characteristics of Approved Orphan Drugs 291

C Medicare Part D Coverage and Reimbursement of Orphan Drugs 309

D Glossary, Abbreviations, and Public Laws 345

E Rare Diseases Clinical Research Network 365

F Advocacy Group Approaches to Accelerating Research and Product Development: Illustrative Examples 371

G Committee and Staff Biographies 387

Index 395

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