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Progetti e attività Internazionali


EPIRARE (European Platform for Rare Disease Registries) is a three-year project co-funded by the European Commission within the EU Program of Community Action in the field of Public Health. EPIRARE started officially on April 15, 2011.


The interest of researchers in the establishment of disease registries, is shown by the increasing number of RD registers in EU Member States as national or local initiatives mainly located at universities (Orphanet, 2009). Applications for funding RD networks, promoting data sharing and collaboration among researchers, are also submitted regularly to the European Commission.
The need for shared quality data collections for different health and healthcare purposes and the awareness of difficulties posed by their maintenance is witnessed by a number of recent documents (EPPOSI, 2009; Pharmaceutical Forum Reports, 2008).
The recent adoption of the Council Recommendation on RDs, which recommends the development of registers and databases for epidemiological purposes, is expected to result in a burst of initiatives for RD registration.
While a wide population base is especially needed for epidemiological and clinical research in RDs, the Regulation on personal data protection creates important challenges to EU data collection and exchange, requiring a legitimate purpose for health data collection. It is therefore urgent to set up a common regulatory, ethical and technical framework to avoid that spontaneous initiatives in EU Countries find sound but autonomous solutions and legal bases, resulting in a waste of time, resources and health.
Aim of the present study is to carry out a feasibility study addressing regulatory, ethical and technical issues associated with the registration of RD patients and with the creation of a EU platform for the collection of data on RD patients and their communication among qualified users. Possibilities for long-term sustainability of registration in the platform will also be studied by seeking synergies among different interests like research, health technology assessment, management of healthcare and policy purposes.
To this aim, the project will define options for the preparation of a legal basis, fields in which effective synergies can be achieved, governance framework and possible options to support the platform either financially or by hosting it in an organization or a Community institution. The feasibility of a minimum data set common to all rare diseases designed to inform policy-making also will be assessed.


The adoption of the EU Council Recommendation on rare diseases (2009/872/CE), which recommends support of registers and databases for epidemiolocial purpose, is expected to result in a burst of initiatives for rare disease registration.

Specific objectives

Define the needs of the EU registries and databases on rare diseases
To define the state of the art of existing registries with reference to their legal basis; organizational and IT measures used; type of data collected; compliance with the rules on personal data protection; quality assurance; operational and financial support.

Identify key issues to prepare a legal basis
To assess the feasibility of an EU legal instrument to allow the integration of national information sources and the collation and exchange of data at the Community level in compliance with the EU Directive 45/96 and with other relevant provisions.

Agree on a Common data set and elaborate procedures for quality control
To define a minimum data set for all rare diseases; to define criteria for quality assessment of data, data sources and procedures in the registries.

Agree on the Register and Platform Scope, Governance and long-term sustainability
To define the scope, operation and governance model of the platform, balancing the interests of relevant stakeholders and ensuring long-term sustainability of the platform. To identify tools and other facilities to support the operation of platform users.

Pubblicato il 30-10-2014 in Progetti e attività Internazionali , aggiornato al 03-11-2014


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