Operational Description Framework for Rare Diseases

The development of an operational description framework for rare diseases is a key component of RDI’s collaboration with the WHO.

A description framework developed by the global rare disease community could help inform the WHO and Member States when considering national, regional and international policy, and increase the recognition and visibility of rare diseases in health systems.

Attempts to define rare diseases regularly prioritise disease prevalence thresholds, whereas an operational framework would also consider qualitative characteristics. The framework would bring attention to the multi-facetted challenges associated with rare diseases such as the difficult journey to diagnosis and the severity of many rare conditions.

RDI is currently undertaking work with its members and other stakeholder groups to propose an operational description framework for the WHO.

Key References

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.”