To begin, the committee would like to thank the sponsor of this study. This report would not be possible without the U.S. Food and Drug Administration (FDA), whose affiliates were instrumental in conceptualizing the study’s statement of task. Numerous individuals and organizations made important contributions to the study process and this report. In particular, the committee wishes to thank the staff teams at FDA, particularly Rachael Anatol, Jacqueline Corrigan-Curay, Martha Donoghue, Lewis Fermaglich, Emily Freilich, Kerry Jo Lee, Akua Mfum-Gyau, James Myers, Miranda Raggio, Sandra Retzky, Quyen B. Tran, Katherine Tyner, Julienne Vaillancourt, Celia Witten, Sarah Zaidi, Samantha Zenlea, and Hao Zhu; and the European Medicines Agency, particularly Steffen Thirstrup, for lending their time and expertise, sharing information and data with the committee, and providing technical review of draft manuscript sections.

The committee thanks representatives from the following companies for taking the time to participate in a series of semi-structured qualitative interviews that helped inform the committee’s deliberations: AMO Pharma; AbbVie; Affinia Therapeutics; Agios; Bayer; BioMarin Pharmaceuticals; Biogen; BridgeBio; Dyne Therapeutics; GlaxoSmithKline; Glycomine; Janssen Pharmaceutical Companies of Johnson & Johnson; Mahzi Therapeutics; Prilenia Therapeutics; Reata; Recordati; Roche; Sanofi; Stealth BioTherapeutics; Takeda; Ultragenyx Pharmaceutical Inc. The committee would also like to acknowledge the many individuals who took the time to share information, perspectives, and insights during open sessions of committee meetings. Their names and affiliations can be found in the committee meeting agendas in Appendix B.

The committee wish to express special thanks to the Centre for Innovation in Regulatory Science (CIRS) for its commissioned and pro bono contribution to this report. At CIRS, the committee thanks Magda Bujar, Adem Kermad, Juan Lara, Neil McAuslane, and Anna Somuyiwa, and for their collaboration and for carrying out the data analyses that helped inform this report (Appendix D).

The committee would also like to thank National Academy of Medicine fellow, Sanket Dhruva, for his thoughtful contributions throughout the study process; Erin Hammers Forstag for her writing contributions; and additional National Academies’ staff, without whom this report would not have been possible: Christie Bell, Lori Brenig, Samantha Chao, Robert Day, Amber McLaughlin, Marguerite Romatelli, Leslie Sim, Clare Stroud, Taryn Young, Megan Lowry, Will Andersen, Christopher Lao-Scott, and Rebecca Morgan.

Above all, the committee would like to express its gratitude to the many patient groups, and people living with rare diseases—including caregivers and their families—for taking time to share their invaluable insights, experiences, and perspectives, which helped shape this report and inform the committee’s recommendations.