Regulatory Processes for Rare Disease Drugs in the United States and European Union

Rare diseases, such as sickle cell disease and thalassemia, affect up to 30 million people in the United States and at least 300 million across the globe. Congress called on the U.S. Food and Drug Administration (FDA) to sponsor a National Academies study on processes for evaluating the safety and efficacy of drugs for rare diseases or conditions in the United States and the European Union. The resulting report provides recommendations for enhancing and promoting rare disease drug development by improving engagement with people affected by a rare disease, advancing regulatory science, and fostering collaboration between FDA and the European Medicines Agency.

Table of Contents


Front Matter
Summary
1 Introduction
2 FDA Flexibilities, Authorities, and Mechanisms
3 EMA Flexibilities, Authorities, and Mechanisms
4 Alternative and Confirmatory Data
5 FDA and EMA Collaboration
Appendix A: Biographical Sketches of Committee Members and Staff
Appendix B: Disclosures of Unavoidable Conflicts of Interest
Appendix C: Public Meeting Agendas
Appendix D: Centre for Innovation in Regulatory Science Data Analysis Methodology
Appendix E: Qualitative Interview Summary and Methodology
Appendix F: Non-Exhaustive List of Patient Focused Drug Development Meetings and Patient Listening Sessions for Rare Diseases Between 2013 and 2023
Appendix G: List of Orphan Approvals by FDA or EMA Between 2018 and 2022
Appendix H: Select Examples of Rare Disease Drug Products
Appendix I: FDA and EMA Resources, Policies, and Programs Relevant for Drug Development for Rare Diseases and Conditions