
Launch of European platform for rare diseases
The European Commission wants to improve the diagnosis and treatment of rare diseases by sharing knowledge.
MM/TH/SW – 03/2019
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.