EURO-NMD, ERN for Rare Neuromuscular Diseases, spans 14 European countries, with 61 reference centres that oversee more than 100,000 patients. Core objectives are the implementation of clinical practice guidelines and the definition and monitoring of core indicators of guideline conforming management, treatment quality and patient health outcomes. Patient registries are key instruments for the ERN to be able to deliver its objectives. A recognised challenge for rare diseases is the heterogeneity of legacy data sets and the multiplicity of existing registries. EURO-NMD health care providers and patient organizations are currently active in more than 120, mostly disease specific and patient run registries. While the existing registries are collecting important information, none of them is used by all EURO-NMD centres and there is no unified NMD or NMD Disease Specific Registry in EU. The general objective of this proposal is to build a registry hub for all neuromuscular diseases, including undiagnosed patients, and connect with the existing ones. The EURO-NMD Registry Hub will use internationally agreed, state of the art concepts such as being built with a system that will collect standardized common data elements, defined by the Joint Research Center (JRC). It will be registered in the JRC’s meta-registry platform ERDRI, will allow for the generation of a Privacy Preservation Record Link (PPLR) through the EUPID system, it will use internationally accepted ontologies (HPO) and ORPHA codes for codification of the diseases. Development of a registry hub that will allow linking and extraction of data from different sources. Thus, the data collected through the registry hub will be Findable, Accessible, Interoperable, and Reusable (FAIR). The registry hub will offer the unique opportunity to the fragmented NMD communities and their HCPs, Centers, Patients and Patient Organizations to be able to communicate between them and exchange knowledge, experience and news.
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ERN GENTURIS is a European Reference Network (ERN) for all patients with one of the rare genetic tumour risk syndromes (genturis). These patients have a very high risk of developing multiple tumours due to the hereditary nature of these syndromes, which often affect multiple organs and at an earlier age than non-hereditary tumours. Genturis patients with cancer need different treatment and follow-up than patients with non-hereditary cancers. In addition, ERN GENTURIS takes care of the relatives of these patients, for whom prevention and early detection of tumours is of great importance too.
The aim of the GENTURIS registry is to establish a solid and sustainable FAIR central platform that facilitates standardised data registration and sharing of genturis patients’ data across Europe. The registry will consist of a common data registry for all genturis patients combined with disease-specific data registration for all the different thematic disease groups covered by ERN GENTURIS: 1) Neurofibromatosis; 2) Lynch Syndrome and Polyposis; 3) Hereditary Breast and Ovarian Cancer; and 4) more rare and predominantly malignant genturis. Via the FAIR infrastructure of the GENTURIS registry and following international RD and data recommendations, linkage between our registry and other ERN registries and national or RD registries will be possible. Synergies are especially envisioned with ERN ITHACA, VASCERN, Endo-ERN, ERN PaedCan and ERN EURACAN because these ERNs provide both different care and complementary data registration of our target population.
ERN GENTURIS provides high-quality healthcare to more than 42,000 genturis patients and the total number of genturis patients in Europe that stand to benefit from the GENTURIS registry is even substantially more. The GENTURIS registry will provide insights in the disease epidemiology and the natural disease history and will facilitate research to improve diagnostics, treatment and prevention in patients with genturis.
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The general objective of the “Metadata registry for the ERN RITA” (MERITA) project is promoting the interoperability of the RITA network registries so far identified and potentially with the other ERNs, maximizing the adherence of RITA members to the ERDRI platform and developing a new registry for sharing clinical data provided by RITA registries according the European Commission’s Joint Research Centre standards with the unique expertise gained by the PRINTO network is the interoperability of its own registries.
MERITA project will potentially affect quality of life of all the patients with rare immune diseases across Europe and beyond. MERITA project will support the activity of the RITA network that includes 126 members of whom 45 are HCPs and eight are patients and family organizations. In the ERN RITA more than 50 national and international registries enrol more than 55,000 patients from 14 European countries and many others from several other countries outside Europe. The MERITA project will also confront with the project of the other ERNs in order to harmonise as much as possible the different initiatives. The overall outcome will serve also as a reference tools for pharmaceutical companies aiming to develop new target for the treatment of patients with rare immune diseases. Overall aim of the MERITA project is therefore to reach different stakeholders including but not limited to health professionals, patients, patient organisations, other ERNs and industries.

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