Research into rare diseases (RD) is urgently needed as many patients still lack a proper diagnosis and most of them are left without effective treatment. The overarching goals of IRDiRC are to make possible the diagnosis of as many rare diseases as possible and to contribute to the development of 200 new RD treatments by 2020. IRDiRC intends to monitor the progress towards these goals through a set of indicators which are presented below. Of course, these progresses cannot be attributed to IRDiRC policy only, as many factors play a role in these achievements and many players pull in the same direction.
Progress towards a diagnostic test for most rare diseases
Progress in this field requires identifying rare diseases and their cause, mostly their genetic origin, and then developing clinical tests. That is therefore why IRDiRC monitors the number of new rare diseases identified since 2010, the number of genes identified as linked to rare diseases and the number of diseases for which there is a clinical test available in one of the 37 countries where this information is systematically collected. The source of the data provided is the Orphanet database.
Number of new diseases extracted from OrphaNews ‘New syndromes’ section on a monthly basis. This section presents a list of peer reviewed publications where the authors describe new candidate diseases.
Annual data extracted from Orphanet
Annual data extracted from Orphanet for 38 countries
Progress towards 200 new medicinal products by 2020
As one of the goals of IRDiRC is to deliver 200 new therapies for rare diseases, IRDiRC monitors the cumulative number of medicinal products with an orphan designation and marketing approval for the treatment of rare diseases in the US and/or Europe.
The number is calculated from the information available on EMA and FDA websites. A same medicinal product approved in both the US and Europe is only counted once. A same medicinal product is counted once for each indication it received a marketing approval. Any medicinal product losing orphan designation or marketing approval for an indication will be removed from the count. The indicator is updated monthly.
The list of new medicinal products per year is available here. Please find more information in the Orphanet Report Series “Lists of medicinal products for rare diseases in Europe”.
This page was updated on December 01, 2016