The European Commission wants to improve the diagnosis and treatment of rare diseases by sharing knowledge.

To mark Rare Disease Day on 28 February 2019, the European Commission launched the new European Platform on Rare Diseases Registration. The aim is to consolidate the data and information on patients with rare diseases that are currently held in about 600 different registries in order to improve research into rare diseases, as well as their diagnosis and treatment. This should also benefits persons insured by Germany’s statutory insurance system.  

The aim of the platform

Up until now, data has not been collected EU-wide and there are no common standards for analysing the available information on rare diseases. The types of data collected varies greatly, some data focuses on developing medicines for particular diseases, while other data tracks instances of rare diseases over time. This fragmentation of information often means there is no big picture and information about diagnosis and treatment is either not shared or only partially. Sharing information about rare diseases in Europe, which could help many people, is simply not a given.  

Existing registries will now be merged into the European Platform for Rare Diseases Registration (EU RD Platform) in order to ensure that data can be consistently assessed in the future. The aim of the EU RD Platform is to provide researchers, healthcare providers, patients and policy makers with a single tool to improve the understanding, diagnosis and treatment of rare diseases.  

The Platform consists of the following elements:

• the European Directory of Registries, which gives an overview of all participating registries;
  
• the Central Metadata Repository, which stores all types of variables used by the registries;
  
• a data protection tool, which makes sure patient data is held under a pseudonym and cannot be traced back to the individual. 
  

The Central Metadata Repository allows large amounts of patient data to be analysed anonymously which will significantly increase research quality. Patient data can be collected and exchanged in a standardised form, making comparisons much easier.

Background

In the European Union, a disease is defined as being rare when it affects less than 2000 people. However, this actually applies to more than 30 million people in Europe.

Some of the 6,000 to 8,000 different types of rare diseases manifest themselves from birth. Genetic factors play a major role in the majority of rare diseases, including lipoedema. Lipoedema is listed as a rare genetic disease, as well as a rare skin disease, in the Orphanet rare disease nomenclature. The disease has recently attracted public attention in Germany following comments by Federal Health Minister Jens Spahn that the cost of liposuction for treating lipoedema should be covered by health insurance funds in the future.

Orphanet was established in 1997 by the French National Institute for Health and Medical Research (INSERM). It was expanded throughout Europe in 2000 and now receives funding from the European Commission. Orphanet consists of a consortium of 40 partner countries from Europe and across the globe. Orphanet provides information on rare diseases and provides equal access to this information for all stakeholders. In addition, it maintains the Orphanet rare disease nomenclature, which is designed to improve the visibility of rare diseases in health and research information systems.

Over the last few years, the EU has invested more than €1.8 billion in more than 200 collaborative research and innovation projects as part of the European Joint Programme on Rare Diseases.

The following links provide access to the Commission’s press release as well as additional information on rare diseases.