The European Medicines Agency has published a table with information on relevant sources for prevalence data for orphan conditions. The sources included in the document have already been assessed and accepted by the (COMP) in previous orphan designation applications.


This new transparency initiative is designed to decrease the administrative burden for applicants for orphan designation and thus encourage the development of medicines for rare diseases.


Sponsors applying for orphan designation for a medicine are requested to provide authoritative references to demonstrate that the condition that the medicine is intended to treat does not affect more than 5 in 10,000 people in the European Union. Possible sources include relevant scientific literature and databases.


After more than 10 years of the implementation of the orphan regulation, the Agency has accumulated a considerable amount of data on sources of prevalence of rare diseases from the applications for orphan designation. In most cases those sources are publicly available but not easily accessible.


The Agency has decided to make the information collected so far publicly available to facilitate the orphan designation process. The information is provided as a table, which will be updated regularly.


Sponsors are still obliged to submit an original, up-to-date prevalence calculation supported by data with their orphan-designation application. In the points to consider on the calculation and reporting on the prevalence of a condition for orphan designation, the Agency provides assistance for sponsors in establishing the prevalence for conditions and suggests sources of data, review methods and how to present results.


Of note, the references cited are not intended to substitute epidemiological review of the prevalence of rare diseases and have to be assessed by the COMP in the regulatory context of orphan designation. Sometimes, the conclusions adopted reflect worst-case scenarios that are appropriate for regulatory purposes.


Posted on the EMA website on 24 July 2012