European Reference Network / Projects

3rd Health Programme (2014-2020)
The ERN-RND Rare Neurological Disease Registry [ERN-RND Registry]
The ERN-RND Registry project aims to establish a demographic platform for collection of relevant core patient information. This will be accomplished by the construction and implementation of a single ...
The ERN-RND Registry project aims to establish a demographic platform for collection of relevant core patient information. This will be accomplished by the construction and implementation of a single data base encompassing all rare neurological diseases in pediatric and adult patients (the ERN-RND Registry), which will collect information according to the "Set of common data elements for Rare Diseases Registration". The members of ERN-RND provide healthcare to more than 35,000 patients with rare neurological diseases. The proposed ERN-RND Registry will target patients, who suffer from the following rare neurological diseases and conditions: Ataxia and HSP, Leukodystrophies, Frontotemporal Dementia, Dystonia, Paroxysmal Disorders & NBIA, Atypical Parkinsonism and Huntington’s Disease & Choreas. The ERN-RND registry project will pursue three main objectives: 1. The ERN-RND core Registry will be developed using the RedCap database platform that is being operated at University Hospital Tübingen, Hertie Institute for Clinical Brain Research. 2. The second main objective of the project will be to link the central ERN-RND registry with existing hospital databases and disease- or treatment-specific registries. 3. The third objective is the implementation of a continuous monitoring system to follow center performance in terms of care quality and patient outcomes.
Start date: 01/04/2020 - End date: 31/03/2023

Call: Call for Proposals for Projects 2019
Topic: European Reference Network
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: European Reference Network
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: European Reference Network
3rd Health Programme (2014-2020)
Joint Action on Rare Cancers [JARC]
This Joint Action on Rare Cancers (JARC) will be aimed at:

1. prioritising rare cancers (RCs) in the agenda of the Europe (EU) and Member States;
2. developing innovative and shared solutions for ...
This Joint Action on Rare Cancers (JARC) will be aimed at:

1. prioritising rare cancers (RCs) in the agenda of the Europe (EU) and Member States;
2. developing innovative and shared solutions for European Reference Networks (ERNs) on RCs, in the areas of quality of care, innovation, education and state of the art definition on prevention, diagnosis and treatment.
The objectives of JARC will be achieved by creating a platform for competent national authorities as well as institutions, scientific and professional societies and patient organisations, to produce consensus-based recommendations, with a special view to the new ERNs, seen as a great opportunity for improvement of RC patient outcomes in the EU.
Following the results of the RARECARE project, all the 12 families of RCs will be considered. Consensus-based recommendations about RCs will be provided to improve: 1) epidemiological surveillance of RCs; 2) quality of healthcare, primarily through the new ERNs; 3) the availability of clinical practice guidelines on RCs; 4) innovation, also by optimizing clinical research regulations as well as practices and semantics regarding patient data and tissues; 5) medical and patient education; 6) health policy measures on RCs at the EU and national level; 7) patient empowerment (which will be pursued across all items dealt with by JARC). All EU stakeholders in the field of RCs and rare diseases will be involved.
JARC will carry forward the aims of the Third Health Programme by improving chances of EU RC patients to have access to appropriate healthcare, primarily through optimal shaping of ERNs. Thus, all this should result in reduced healthcare inequalities, increased innovation in health, increased sustainability of health systems, decreased health migration and reduction of gaps in rare cancers survival across EU countries.

Start date: 01/10/2016 - End date: 30/09/2019

Call: Health Programme Adhoc Call for invited (named) beneficiaries
Topic: European Reference Network
3rd Health Programme (2014-2020)
European Reference Network for GEnetic TUmour RIsk Syndromes - GENTURIS [ERN GENTURIS]
GENTURIS is a European Reference Network (ERN) for all patients with one of the rare genetic tumour risk syndromes (genturis). These patients are at very high hereditary risk of developing multiple tu...
GENTURIS is a European Reference Network (ERN) for all patients with one of the rare genetic tumour risk syndromes (genturis). These patients are at very high hereditary risk of developing multiple tumours, which are often located in multiple organ systems. In case they are diagnosed with cancer they need different treatment and follow-up as compared to non-hereditary cancers. In addition GENTURIS takes care of the relatives of these patients, for which prevention and early detection of tumours is of great importance too.
WHAT IS OUR MISSION: To inspire hope and contribute to health and well being by organizing and providing the best care to every patient in Europe with a genetic tumour risk syndrome through integrated multidisciplinary healthcare, guidelines, education and research.
WHAT IS OUR DESIRED END-STATE: Striving to be the world’s leader of genetic tumour risk syndromes in patient participation, clinical care, research and education.
The ERN GENTURIS is addressing the following challenges when it comes to the identification, genetic testing, tumour prevention and treatment of patients with genturis: 1) Great majority of genturis patients are not yet identified 2) Large variation in clinical outcomes resulting in impaired prognosis and avoidable costs 3) Guidelines are lacking or implemented insufficiently 4) Almost no patient registries and biobanks 5) Limited research programs 6) Fragmented patient empowerment activities.
There are 4 thematic groups of syndromes: 1: Neurofibromatosis type 1, 2 & Schwannomatosis. 2: Lynch syndrome & polyposis. 3: Hereditary breast & ovarian cancer. 4: Other rare - predominantly malignant - syndromes. This group includes syndromes not covered in the other groups. It is a heterogeneous group with very small numbers of patients that will benefit greatly from a centralized approach. Within the next years not yet covered as well as newly discovered genturis will be included as well.

Start date: 02/03/2017 - End date: 01/03/2022

Call: European Reference Networks
Topic: European Reference Network