The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration

Abstract

BackgroundThe European Union acknowledges the relevance of registries as key instruments for developing rare disease (RD) clinical research, improving patient care and health service (HS) planning and funded the EPIRARE project to improve standardization and data comparability among patient registries and to support new registries and data collections.MethodsA reference list of patient registry-based indicators has been prepared building on the work of previous EU projects and on the platform stakeholders’ information needs resulting from the EPIRARE surveys and consultations. The variables necessary to compute these indicators have been analysed for their scope and use and then organized in data domains.ResultsThe reference indicators span from disease surveillance, to socio-economic burden, HS monitoring, research and product development, policy equity and effectiveness. The variables necessary to compute these reference indicators have been selected and, with the exception of more sophisticated indicators for research and clinical care quality, they can be collected as data elements common (CDE) to all rare diseases. They have been organized in data domains characterized by their contents and main goal and a limited set of mandatory data elements has been defined, which allows case notification independently of the physician or the health service.ConclusionsThe definition of a set of CDE for the European platform for RD patient registration is the first step in the promotion of the use of common tools for the collection of comparable data. The proposed organization of the CDE contributes to the completeness of case ascertainment, with the possible involvement of patients and patient associations in the registration process.Electronic supplementary materialThe online version of this article (doi:10.1186/2049-3258-72-35) contains supplementary material, which is available to authorized users.

National Registries of Rare Diseases in Europe: An Overview of the Current Situation and Experiences

“…It is also witnessed by recent EU policies [3,4] and by other EU and international initiatives [8,9,10]. In spite of the need for a coordination of these activities, the European Commission is slowly deploying its initiatives and EU Member States are implementing and planning registries independently from each other.…”

“…To this aim, the EPIRARE project proposed a set of CDEs [3] on the basis of extensive consultations of different stakeholders. A methodology for a minimum data set for RDs to support national centers of expertise for healthcare and research was also proposed by the French initiative [11].…”

“…The ‘Building Consensus and Synergies for the EU Registration of RD Patients in Europe' (EPIRARE) project [1] studied the feasibility of a European Union (EU) Platform for Rare Disease (RD) Registries and, together with the definition of a platform model [2], reference indicators and a related common data set [3], concluded that beside the major contribution which can be given by spontaneous registries, the national authorities have an important role to play: establishing national registries, promoting interoperability by identifying and agreeing on common references and standards, ruling and streamlining the information flow for the achievement of completeness of case ascertainment, and supporting longitudinal data collection designs.…”

An international registry for primary ciliary dyskinesia

“…Patient registries are well-known tools to assemble sufficient numbers of individuals with a rare disease to assess and monitor patient data in a standardised and longitudinal way, and to recruit candidates for clinical research studies [20,21]. Patient data have been collected by PCD centres on national or regional levels, e.g.…”

Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study

“…By contrast, Italy was one of the first Member States in the European Union to regulate the field of RD [44]. In Italy, the development of a national plan or strategy for RD derived from the necessity to fulfil the EU Commission Recommendation to adopt national plans or strategies for RD by the end of 2013 [45]. In Spain, the Spanish Rare Diseases Registries Research Network is a project which aims to build a National Rare Diseases Registry based on the input of two different methods: patient outcome research registries and populationbased registries [39].…”