EU Science Hub

Supporting rare diseases data sharing at the EU level for more effective patient care

rare diseases day illustration
Feb 27 2017

28 February is the Rare Disease Day, meant to raise awareness about rare diseases. The JRC, together with the Commission’s Directorate-General for Health and Food Safety (DG SANTE), is developing the European Platform on Rare Diseases Registration (EU RD Platform) to combine data on rare diseases, scattered across over 600 patients registries in the EU. The platform will facilitate data sharing for the benefits of patients and healthcare providers enabling the publication of EU-wide comparable statistics.

Between 27 and 36 million people are affected by rare diseases in the EU

Between 27 and 36 million people in the EU are living with a rare disease. A disease is "rare" if it affects no more than 5 in 10,000 people. There exist between 6,000 and 8,000 rare diseases. A key element for successful diagnosis, treatment and research of rare diseases is the availability of exhaustive patient information contained in registries. Such information has been gathered for decades in a scattered and fragmented way in 600-1000 registries at national, regional, and local levels.

Fragmentation and lack of interoperability between the data sources still is a key obstacle for epidemiological, clinical, translational and pharmacological studies and research, as no single institution or even no single country has enough patients in order to sustain clinical, epidemiological, pharmacological trials or other types of research.

This calls for an EU-level approach in terms of sharing knowledge and expertise, making the existing registries interoperable, building synergies and combining resources.

JRC to guarantee the European surveillance of congenital anomalies 

In the framework of the EU RD Platform, the JRC took over coordination activities and the central registry of the European network of population-based registries for the epidemiological surveillance of congenital (present from birth) anomalies. The new European surveillance of congenital anomalies (JRC-EUROCAT) Central Registry is now fully functional at the JRC, this ensures sustainability for EUROCAT activities, it secures the results of former work and keeps the network functioning.

800 000 cases of congenital anomalies in one place

The JRC-EUROCAT central database contains 800,000 cases of children with congenital anomalies. This data enables the provision of prevalence, prenatal diagnosis and perinatal mortality data. It forms the basis for annual statistical monitoring to detect new or increasing exposures causing developmental malformations, which may require public health action. It is also used for developing recommendations considered for primary prevention in the Rare Diseases National Plans for medicinal products, food/nutrition, lifestyle, health services and environmental pollution.

The benefits of EUROCAT are highly relevant for European public health and will be open to a wide range of stakeholders including healthcare providers, researchers, patients, pharmaceutical industry, and decision makers with the final goal to provide real benefit for patients' healthcare.

Established in 1979 and funded since then by the EC, today EUROCAT has 45 registries in 25 countries and it covers one third (1.7 million) of all European births annually.

European Platform on Rare Diseases Registration

The European Platform on Rare Diseases Registration (EU RD Platform), being developed by the JRC in collaboration with DG SANTE, aims to cope with the enormous fragmentation of data. It will provide EU-level solutions for data collection and data sharing.

Up to now, two European central registries are part of the EU RD Platform: the JRC-EUROCAT (European Surveillance of Congenital Anomalies) Central Registry and the JRC-SCPE Central Registry (Surveillance of Cerebral Palsy in Europe, combining 31 SCPE registries from 21 countries) and this guarantees their sustainability. They provide tailor-made datasets for scientific research. The first studies are undergoing in the fields of epidemiology of congenital cerebral anomalies in Europe, effects of early antenatal care on pregnancy outcomes and child health and the prevalence of trisomy 21 at birth.

The Platform supports the implementation of the Commission policy in the field of rare diseases.

Importance for EU citizens

This work forms the much needed statistical evidence base for monitoring trends in prevalence of congenital anomalies and the provision of public health indicators. The monitoring of rare diseases is a top public health priority for providing appropriate public health policies on biomedical research, drug development, training, social care, hospitalisation and outpatient treatment. Thus it offers protection to the most vulnerable, youngest, and often isolated members of our society.