This perspective from members of the International Rare Diseases Research Consortium (IRDiRC) examines rare disease preparedness as a global health priority. It considers how lessons from pandemic preparedness could inform a coordinated approach to rare disease diagnosis, research, care and therapeutic development.
The authors discuss the collective burden and unpredictable progression of rare diseases, including gaps in diagnosis, access to care, research infrastructure and treatment. Initiatives referenced in the publication include the European Reference Networks, Rare Disease Day, Undiagnosed Diseases Network and Solve-RD.
The publication considers how coordinated public-private collaboration could accelerate rare disease research and therapeutic development. It discusses the US Food and Drug Administration’s Support for Clinical Trials Advancing Rare Disease Therapeutics pilot programme and the Rare Disease Moonshot, whose partners include the Critical Path Institute.
The authors propose developing a global rare disease preparedness roadmap. The recommendations call for community awareness, political commitment, appropriate funding, regulatory flexibility, privacy-preserving data sharing, international clinical trial networks, distributed manufacturing and therapeutic platforms.
