Rare disease registries for the European Reference Networks

6th June 2019

Topic Description Scope:

The target groups for this topic are aproved ERNs not yet receiving grants for registries.

Deadline:   

10 September 2019 17:00:00 Brussels time

Background and purpose of the call:

The proposed action aims to support the development of rare disease (RD) registries for the European Reference Networks (ERNs).

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 best way of pooling data to achieve a sufficient sample size for epidemiological and/or clinical research. Registries serve as a recruitment tool for the launch of studies focusing on disease etiology, pathogenesis, diagnosis or therapy.

The Council of the European Union recommended[1] that, in the field of rare diseases, Member States consider supporting at all appropriate levels, including the EU level, for epidemiological purposes, registries and databases, whilst being aware of independent governance. In order to support this process and, in particular, the interoperability of data in rare diseases registries, the Commission decided to set up a European Platform on Rare Disease Registration (EU RD Platform[2]) and to develop specific standards for the interoperability of such rare disease registries (“JRC standards” developed by the Commission’s Joint Research Centre).

As foreseen in Article 12 of the Directive on the application of patients’ rights in cross-border healthcare[3], 24 European Reference Networks (ERNs) were kicked-off in 2017 and since 2018 they are developing their research capabilities. Patient registries belong to this development, enabling to build patients cohorts at European level to follow up the natural course of diseases with sufficient patients data.

Five ERNs already received financial support from the Health Programme (Annual Work Plan 2016) and are currently developing a comprehensive approach for rare disease registries covering their entire ERN, following JRC standards and tools.

The remaining 19 ERNs are preparing their strategy in terms of research and registries and need to be financially supported, too.

As laid down in the Directive, research in general and registries in particular are one of the objectives of the ERNs[4]. Since five ERNs are already supported for this purpose, only approved ERNs not yet receiving grants for registries are eligible to be co-funded through the present call.

Objectives pursued and expected results:

The main objectives of the present Call for projects for RD registries for ERNs are:

– to enable building, upgrading, linking and making interoperable registries covering the diseases and conditions of each ERN, thus linking and making visible patients cohorts at European level in order to follow up the natural course of diseases with sufficient patients data, also by registering all individual RD registries of the ERNs on the EU RD Platform;

– based on the above registration, to develop a comprehensive approach for rare disease registries covering the respective ERNs following the standards and tools provided by the EU RD Platform.

Patient registries will also contribute to the ERNs evaluation process foreseen in the ERN implementing decision and to the continuous monitoring and quality improvement system of the networks.

Proposals for upgrading already established registries are acceptable, as long as the proposal is in line with the objectives and registry policy of the specific ERN and covering the diseases and conditions of that ERN. The Coordinator or the Board of the ERN should approve the proposal and nominate the healthcare provider (a member of the ERN) to be responsible to carry out the action on its behalf and coordinate the project to be implemented with partners, in particular other members of the same ERN.

Description of the activities to be funded under this topic:

The activities to be carried out concern the building and development of rare disease patient registries for ERNs and further development and quality-control of existing registries.

In doing so, the following principles should be followed:

(i) strengthen coordination and cooperation and develop synergies among the networks and their registries;

(ii) build on existing tools and avoid doubling similar actions or activities;

(iiI) avoid the development of a variety of diverse, non-interoperable solutions.

Registries should, in particular, be built using the infrastructure and following the standards of the EU RD Platform and provide it with all the necessary data, and comply with the relevant data protection rules. For developing the registries, the ERNs commit to ensure, as a first step, that all individual registries used by the respective ERNs are registered on the EU RD Platform and in particular on its “European Rare Disease Registry Infrastructure” (ERDRI) that renders rare disease registries’ data searchable and findable. Thus, the proposals to be funded will have to work with JRC, making sure that all ERNs will benefit from harmonised tools and standards following coordinated efforts around the EU RD Platform.

The projects must end with fully operational, interoperable and visible registries. The co-funded projects shall use JRC common data elements and shall be enrolled in the EU RD Platform / ERDRI. These registries should acknowledge the link with their ERNs.

Cooperation with the European Medicines Agency (EMA) can also be envisaged, but there are no specific requirements on how the ERN registries projects should cooperate with EMA.

The Clinical Patient Management System (CPMS), the online tool currently used for the clinical work of the ERNs, shall also be considered in this context if it serves the specific needs of the ERNs. Thus, if the consortium so wishes, an interaction with the ERN IT Advisory Group and/or with DG SANTE IT specialists for information and advice can be foreseen.

In addition, the ERN Research Working Group (formed of ERN representatives and of representatives of the ERN Board of Member States) can also play a facilitating role to create synergies for the registries developed for ERNs.

Expected output and impact:

The expected outputs are:

  • Setting up new or improving the existing rare disease registries;
  • Better coordination and cooperation among rare disease registries;
  • Increased interoperability between rare disease registries;
  • Cost-effective building of registries by avoiding fragmentation and duplication of work;
  • Better visibility of rare disease registries and, in particular, of those used and enhanced by ERNs.
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