Current Results of Research

Research into rare diseases (RD) is urgently needed as many patients still lack a proper diagnosis and most are left without effective treatment. The overarching goals of IRDiRC are to make possible the diagnostics of as many rare diseases as possible and to contribute to the development of 200 new RD treatments by 2020. IRDiRC monitors the progress towards these goals through the set of indicators presented below. Of course, these progresses cannot be solely attributed to IRDiRC policy and activities as many factors play a role in these achievements, with many players pulling in the same direction.


Progress towards a diagnostic test for most rare diseases

The progress in this field involves identifying rare diseases and their causes, often genetic in origin, and then developing appropriate clinical tests. IRDiRC monitors (1) the number of new rare diseases identified since 2010, (2) the number of genes identified as linked to rare diseases, and (3) the number of diseases for which there is a clinical test available in one of the 37 countries where such information is systematically collected. Data source: Orphanet database


Number of new rare diseases extracted from the OrphaNews “New syndromes” section on a monthly basis. This section presents a list of peer-reviewed publications where the authors describe new candidate rare diseases.


Number of genes linked to rare diseases 2017

Annual data extracted from the Orphanet database.


Number of genetic tests

Annual data extracted from the Orphanet database.


Progress towards 200 new medicinal products by 2020

One of the IRDiRC goals is to contribute towards the development of 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 EU and/or USA.

The number is calculated from the information available on the EMA and FDA websites. A same medicinal product approved in both the EU and USA 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.


Number of new rare disease medicinal products


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”.


The diagnotics indicators were updated on December 26, 2017
The therapies indicator was updated on December 31, 2016