Latest projects

3rd Health Programme (2014-2020)
VASCERN Registries [VASCERN Registries]
This project proposal concerns the registry needs of VASCERN, the ERN on rare multystemic vascular diseases, which was launched in March 2017 and which is a 5 years project co-funded by the 3rd Health...
This project proposal concerns the registry needs of VASCERN, the ERN on rare multystemic vascular diseases, which was launched in March 2017 and which is a 5 years project co-funded by the 3rd Health Programme under a Framework Partnership Agreement.

In our VASCERN registries' project, we will:
• Use the JRC / ERDRI for storing metadata / EU Common dataset and start transforming the registries into FAIR registries
• Adapt the plan to the structure of VASCERN which is unique because of many diseases with no relations between them (no common point between PPL and HTAD except that these diseases are vascular diseases): therefore there is a need for different registries:

1) common data registry: minimum EU dataset. Already available will be the core of each registry of each of our 5 Rare Disease Working Groups (RDWG).
2) Diseases specific registries: one per RDWG (meaning 5). These rare diseases specific registries can be based on the more complete and evaluated registry (HTAD, MSA and HHT) or can be the creation of a new registry (VASCA and PPL)
Start date: 01/05/2020 - End date: 30/04/2023

Call: Call for Proposals for Projects 2019
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources o...
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
3rd Health Programme (2014-2020)
Patient centered and interoperable registry hub for Rare Neuromuscular Diseases [EURO-NMD Registry]
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 practi...
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.
Start date: 01/05/2020 - End date: 30/04/2023

Call: Call for Proposals for Projects 2019
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources o...
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
3rd Health Programme (2014-2020)
The ERN Genetic Tumour Risk Syndromes Registry [GENTURIS registry]
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 d...
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.
Start date: 01/05/2020 - End date: 30/04/2023

Call: Call for Proposals for Projects 2019
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources o...
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
3rd Health Programme (2014-2020)
MERITA PROJECT: A METADATA REGISTRY FOR THE ERN RITA [MERITA]
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...
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.

Start date: 01/05/2020 - End date: 30/04/2023

Call: Call for Proposals for Projects 2019
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources o...
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
3rd Health Programme (2014-2020)
(R-Liver) Registry for Rare Liver Diseases [R-LIVER]
R-LIVER will build on the registry infrastructure already developed by UKE the coordinating institution for ERN RARE LIVER to provide a European central registry for rare liver diseases. The registry ...
R-LIVER will build on the registry infrastructure already developed by UKE the coordinating institution for ERN RARE LIVER to provide a European central registry for rare liver diseases. The registry will incorporate high quality and prospectively acquired data from patients with rare liver diseases in order to measure and finally improve the quality of care. In addition, R-LIVER aims to incorporate existing registries for specific rare diseases, thus providing a sustainable, interoperable and centrally managed database of critical mass for rare liver diseases. R-LIVER has already been registered on the ERDRI platform and metadata will be provided within this project to guarantee interoperability with other ERN registries. The structure of R-LIVER will comply with the FAIR data principles to make data findable, accessible, interoperable and reusable. R-LIVER will incorporate existing rare liver disease registries making them ERDRI compliant. Furthermore, new capabilities so to advance the operability of R-LIVER to communicate with patients in order to spread knowledge and import patient reported outcome data into the registry will be developed.
Two methods for including data from external registries will be included. For large volume specific disease registries, the objective will be to import all data from the registry and R-LIVER to become the sole registry. For smaller registries that aim will be to import the central quality of care data. All of these measures will assure that assessment and improvement of health-related quality of life remains central objective. R-LIVER will work with other ERN based registries to determine how data can be exchanged to ensure that there is continuity of care for individuals who may appear on more than one registry.
Start date: 01/05/2020 - End date: 30/06/2023
Call: Call for Proposals for Projects 2019
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources o...
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.