Supporting rare diseases registries and providing a European Platform for rare diseases registration

The EU has recommended that Member States should Consider supporting at all appropriate levels, including the Community level, on the one hand, specific disease information networks and, on the other hand, for epidemiological purposes, registries and databases, whilst being aware of an independent governance. (Council Recommendation on an action in the field of rare diseases (2009/C 151/02 )pdf.

Patient registries and databases constitute key instruments to develop clinical research in the field of rare diseases, to improve patient care and healthcare planning. They are the only way to pool data in order to achieve a sufficient sample size for epidemiological and/or clinical research. They are vital to assess the feasibility of clinical trials, to facilitate the planning of appropriate clinical trials and to support the enrolment of patients as well as for the post-marketing surveillance of orphan medicinal products. The creation of a registry can be a powerful tool to create and structure networks of experts, whether they being European Reference Networks of Centres of Expertise or national expert networks for RD. In either case, the experts and centres of expertise involved are a primary source of data for registries.

The strategical objective of the European Commission is the creation of a European Platform on Rare Diseases Registration providing common services and tools for the existing (and future) rare diseases registries in the European Union.

A complete list of the existing 600 rare diseases registers in Europe can be found in the Orphanet Report - Disease Registries in Europe - January 2013pdf. No uniform, accepted standards govern the collection, organization, or availability of these data, and often more than one registry exists for the same rare disease. At the same time, one estimate is that registries exist for only 20% of rare diseases.

National registries on rare diseases

Spanish Rare Diseases Registries Research Network-Spain RDR

Registro Nazionale Malalttie Rare – Italy

Technical projects on rare diseases registration

The Health Programme is supporting the EPIRARE (European Platform for Rare Disease Registries) Project, in order to build consensus and synergies to address regulatory, ethical and technical issues associated with the set up and management of registries for Rare Diseases patients in the EU and to contribute to prepare a platform for the registration of rare disease patients in Europe and to ensure the quality and best use of the registered data,

The aim of the PARENT Joint Action (Cross Border PAtient REgistries iNiTiative), under the Health Programme, is to support MS in developing comparable and coherent patient registries in fields where this need has been identified (e.g. chronic diseases, rare diseases, medical technology), and to support MS states in the provision of objective, reliable, timely, transparent, comparable and transferable information on the relative efficacy and effectiveness of health technologies.

The FP7 Project RD-CONNECT (An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research)will provide an integrated, user-friendly RD-Connect platform, built on efficient informatics concepts already implemented in international research infrastructures for large-scale data management, will provide access to federated databases/patient registries, biobank catalogues, harmonised -omics profiles and cutting-edge bioinformatics tools for data analysis

Objectives of IRDiRC (International Rare Diseases Research Consortium)in the field of rare diseases registration, in a transatlantic basis, are in the direction of a meta-registries or registry of registries as suggested by the agency for Healthcare Research and Quality (AHRQ USA). A registry of registries should prove to be very helpful to the public who are seeking an appropriate patient registry for patient participation.

The EUCERD (European Union Committe of Experts on Rare Diseases) adopted on 5th June 2013 the following recommendation: EUCERD Core Recommendations on Rare Disease patient registration and data collectionpdf