An operational definition of rare diseases would provide a common understanding of what constitutes a rare disease to improve the visibility of Persons Living with a Rare Disease (PLWRD) and support policy worldwide.
RDI is working with a multi-stakeholder group of experts to develop an international operational definition of rare diseases as part of its Memorandum of Understanding with the WHO.
The policy document would serve as a shared reference to help inform the WHO and governments making policy decisions on rare diseases.
The definition will support implementation of the UN Resolution on “Addressing the challenges of Persons Living with a Rare Disease and their families”
Attempts to define rare diseases often prioritise disease prevalence thresholds and frequency; in contrast, an operational description would consider the specific clinical and qualitative challenges associated with the low prevalence of rare diseases.
Key RESOURCES
- Orphanet – Portal for rare diseases and orphan drugs
- Nguengang Wakap S, Lambert DM, Olry A, et al. “Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.”
- Haendel M, Vasilevsky N, Unni D, et al. “How many rare diseases are there?”
- Richter T, Nestler-Parr S, Babela R, et al. “Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group.”
Additional references and documents will be included
For more information contact, Mary Wang
