EU Science Hub

Pooling data to combat rare diseases

The JRC has defined the data elements considered to be essential to enable further research into rare diseases. The JRC has defined the data elements considered to be essential to enable further research into rare diseases.
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Dec 15 2017

The Commission has defined a uniform standard for the collection of data on rare diseases in Europe. This is a first step towards ensuring that the data collected by European registries is comparable and the data registries are interoperable – both preconditions for improving the treatment and outcomes for patients suffering from rare diseases.

In EU countries, any disease affecting fewer than 5 people in 10 000 is considered rare. There are more than 6000 distinct rare diseases in the EU, affecting around 30 million people.

Due to the rarity of the diseases, none of the 28 EU Member States have enough data to conduct epidemiological, clinical or pharmacological studies to advance knowledge in this field.

The information that is available is fragmented in hundreds of registries across Europe, and until now there have been no uniform, accepted standards to govern the collection and organisation of these data.

Vytenis Andriukaitis, Commissioner for Health and Food Safety, said: "The real challenges of researching, diagnosing and treating rare diseases are linked to scarce and scattered knowledge, fragmented research efforts and expensive treatments. Therefore, cooperation at EU level can make a real difference to patients with rare diseases. By pooling together knowledge and expertise, we can reach results that no single country could reach in isolation."

Tibor Navracsics, Commissioner for Education, Culture, Youth and Sport, responsible for the Joint Research Centre, said: "Rare disease patient registries and databases are key instruments for developing clinical research and improving patient care. They enable to pool data in order to obtain sufficient sample sizes for research, but they cannot work in isolation. The standard that has been developed for the registration of the data will enable all these registries to be on the same page, which on the longer term fill facilitate and speed up research in this area."

The EU is helping to pool scarce resources that are currently fragmented across EU countries. Joint action helps patients and professionals share expertise and information across borders.

The JRC and the Directorate-General for Health and Food Safety are developing a European Platform on Rare Diseases Registration (EU RD Platform) to tackle the issue of fragmentation of data regarding rare disease patients.

The "Set of Common Data Elements for Rare Diseases Registration" is the first practical instrument released by the EU RD Platform aiming for an increased interoperability of the data registries.

It defines the minimum data elements to be registered by all rare diseases registries across Europe, and provides instructions on how and in which format each data element should be registered.  

The document describes the 16 data elements considered to be essential to enable further research. They refer to patient's personal data, diagnosis, disease history and care pathway, as well as information to be provided for research purposes.

All existing and new data registries across Europe are recommended to use this standard as the basis for their data collection activities.

The standard was produced by a Working Group coordinated by the JRC and composed of experts from EU projects working on common data sets: EUCERD Joint Action, EPIRARE and RD-Connect.

/jrc/en/file/document/174095Set of common data elements for rare diseases registration