Latest projects

3rd Health Programme (2014-2020)
European Rare Blood Disorders Platform [ENROL]
ENROL, the European Rare Blood Disorders Platform, has been conceived in the core of ERN-EuroBloodNet as an umbrella for both new and already existing registries on rare hematological disorders (RHDs)...
ENROL, the European Rare Blood Disorders Platform, has been conceived in the core of ERN-EuroBloodNet as an umbrella for both new and already existing registries on rare hematological disorders (RHDs). ENROL aims at avoiding fragmentation of data by promoting the standards for patient registries’ interoperability released by the EU RD platform. ENROL’s principle is to maximize public benefit from data on RHDs opened-up through the platform with the only restriction needed to guarantee patient rights and confidentiality, in agreement with EU regulations for cross-border sharing of personal data.
Accordingly, ENROL will map at the EU level demographics, survival rates, diagnosis methods, genetic information, main clinical manifestations and treatments in order to obtain epidemiological figures and identify trial cohorts for basic and clinical research. To this aim, ENROL will connect and facilitate upgrading of existing RHD registries, while promoting the building of new ones when / where lacking. Target-driven actions will be carried-out in collaboration with EURORDIS for educating patients and families about the benefits of enrolment in such registries, including different cultural and linguistic strategies.
The standardised collection and monitoring of disease specific health care outcomes through the ENROL user-friendly platform will determine how specialised care is delivered, where are the gaps in diagnosis, care or treatment and where best to allocate financial, technical or human resources. Moreover, it will allow promoting research especially for those issues that remain unanswered or sub optimally addressed by the scientific community; furthermore, it will allow promoting clinical trials for new drugs. ENROL will enable the generation of evidence for better healthcare for RHD patients in EU as ultimate goal.
Start date: 01/06/2020 - End date: 30/11/2022

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)
ERN eUROGEN Registry for rare urogenital diseases [ERN-eUROGEN registry]
The ERN eUROGEN, currently consisting of 43 HCPs from 17 EU Members States, aims to set up a large patient registry collecting individual data from patients suffering from rare urogenital diseases or ...
The ERN eUROGEN, currently consisting of 43 HCPs from 17 EU Members States, aims to set up a large patient registry collecting individual data from patients suffering from rare urogenital diseases or complex conditions. Currently, very limited data is being gathered about disease progression, surgical procedures and treatment outcome, and the few existing databases are not standardized, fragmenting and scattering the information. Moreover, there is a lack of long-term follow up of the treatment outcome into adolescence and adulthood, which hinders improvement of treatments over time.

Here, ERN eUROGEN will launch the core registry containing the 16 JRC core elements plus several urogenital specific data elements. Together, they will conform the pilot phase of the registry where physicians from all 43 HCPs will register their last 30 rare cases in an anonymous way. The pilot phase will allow to get used to the registry and to perform a clinical snapshot of the current practices i.e. to compare the clinical management of these cases among the expert centres across Europe.

Besides, we will start to integrate four existing rare urogenital disease-specific registries into eUROGEN registry by assessing interoperability and data elements to be imported. We will also prepare the next expansion phase of the registry by collecting the informed consent forms of patients, incorporating suggestions of the users from the pilot phase and enlarging the data set of the eUROGEN registry. Thus, the main outputs will be the operational registry, its governance and the expansion plan, the synchronization protocol, the practice variation study and patient cohorts for future research and clinical trials.

The eUROGEN registry for all 114 rare urogenital diseases will benefit patients and their families who go through a diagnosis odyssey, and the physicians who will learn about seldom conditions and get new insights into the best treatment options, impossible on a national scale.
Start date: 01/06/2020 - End date: 31/05/2023

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)
Interoperable ERN on Rare and Undiagnosed Skin Disorders [ERN-Skin REGISTRY]
Rare diseases need more means in order to help share information on research, diagnostics and also provide equity in treatment. Therefore the European Commission has developed a global European regist...
Rare diseases need more means in order to help share information on research, diagnostics and also provide equity in treatment. Therefore the European Commission has developed a global European registry tool with functions to make data findable, accessible, interoperable and reusable. In parallel ERN-Skin is going to work with UMCG in order to build a central ERN-Skin registry that will receive patient information from different European sources and will push that information into ERDRI, the European global registry. First the new registry will be developed and interfaced with ERDRI, then connections will be established between existing registries in the different HCPs of ERN-Skin and the central ERN-Skin registry. The objective is to cover all diseases. Today there are roughly 20 000 patient records scattered in European HCPs for rare Skin diseases. This new process will enable additional HCPs that have no registry today, to fill-in forms. Therefore we can anticipate the total amount of records to increase a lot. The registry will be developed by UMCG on the Molgenis platform. Work has to be done on the homogenization of data, the required datasets in order to cover all diseases, the patients' consents. Dissemination will be crucial to make the tool sustainable: patients' organizations will be informed of the project and involved in its advancement, HCPs will be regularly informed and trained on the tool, statistics will be published regularly. Also, user guides will be available and webex demonstrations will be performed. A Super User will be in situ at Hospital Necker who will be the main point of contact for questions regarding the use of the central registry. This person will also follow-up on any new developments of the central ERN-Skin registry tool.
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)
An Operational EPICARE Registry for all Rare and Complex Epilepsies [EPICARE-GRANT]
Within our EPICARE network, we want to build a useful registry for all patients with rare and complex epilepsies. This registry will contain the common data elements, as proposed by EU RD platform, as...
Within our EPICARE network, we want to build a useful registry for all patients with rare and complex epilepsies. This registry will contain the common data elements, as proposed by EU RD platform, as well as key epilepsy data fields such as etiology and treatment modalities. The existing pilot version of our registry will be updated and put an a REDcap platform. Pseudonymisation will be done with the EUPID tool and data fields will be FAIRified, so that interoperability with other registries and database will be possible. Links with Orphanet, WHO and genetic databases will be installed. After a pilot trial, the registry will be rolled out in all EPICARE centers. In a next phase, collaborations with other partners such as RD NEXUS and patient organisations (EPAG) will be established so that the EPICARE registry will become a pivotal element in all EPICARE activities. The EPICARE registry, as well as the links with other ERN and non-ERN registries and databases, will allow us to identify where in Europe the patients are located with rare and complex epilepsies and will make dedicated research, optimisation of diagnosis and treatment possible.
Start date: 01/05/2020 - End date: 30/04/2022

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)
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.