New user-friendly tool for European Platform on Rare Disease Registration

The JRC has released a new version of the Central Metadata Repository, a tool that facilitates the integration of data from rare disease registries across Europe.

Today is Rare Disease Day, commemorating a far from rare problem, in that 30 million Europeans are affected by more than 6000 different rare diseases.

It remains challenging to tackle these diseases, not least because data on rare diseases are enormously fragmented, spread across several hundred registries in Europe.

That’s why the JRC, together with the EU Commission’s Directorate-General for Health and Food Safety, launched the European Platform on Rare Disease Registration in 2019.  The purpose of the platform is to make rare diseases patient data searchable, findable and thus usable for researchers, healthcare professionals, patients and policymakers, without breaching the privacy requirements stipulated in the General Data Protection Regulation.

A core component of the Platform is its Central Metadata Repository, which stores all types of variables used by various registries. The JRC released a new and completely revamped version in January 2022, where both access and use have been significantly simplified. This includes a new user-friendly web interface, as well as the integration of conversion and upload tools, to allow for easy integration of metadata, ultimately making it easier to use the data for overarching studies and research purposes.

Training materials are available and training sessions are currently underway to provide the European Platform on Rare Disease Registration registrars with knowledge and to ease their contribution.

Besides the Central Metadata Repository, the Platform also includes:

• the European Directory of Registries, which gives an overview of  the participating registries;
• the Pseudonymisation Tool, which makes sure patient data is handled anonymously;
• the Central Registries for two European networks for congenital anomalies and cerebral palsy.