European Reference Network / Projects

3rd Health Programme (2014-2020)
VASCERN 3-year Detailed Work programme for third to fifth year of the FPA implementation (March 2019-February 2022) [VASCERN]


This is the VASCERN Specific Grant Agreement for Year 3 to Year 5 under the Framework Partnership Agreement. VASCERN Network Coordinator is Prof. Guillaume JONDEAU, Cardiologist at the Assistance Pu...


This is the VASCERN Specific Grant Agreement for Year 3 to Year 5 under the Framework Partnership Agreement. VASCERN Network Coordinator is Prof. Guillaume JONDEAU, Cardiologist at the Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bichat-Claude Bernard, CRMR (Center of Reference) Marfan Diseases and related disorders. VASCERN aims to facilitate and improve diagnosis, treatment and care for all patients suffering from rare multisystemic vascular diseases.
The European Reference Network on rare multisystemic vascular diseases (VASCERN) gathers European highly specialized multidisciplinary Healthcare Providers (HCPs) in this thematic area of expertise.
VASCERN includes 5 Rare Diseases Working Groups (RDWGs):
- Heritable Thoracic Aortic Diseases (HTAD-WG)
- Hereditary Haemorrhagic Telangiectasia (HHT-WG)
- Medium Sized Arteries (vascular Ehlers Danlos) (MSA-WG)
- Pediatric and Primary Lymphedemas (PPL-WG)
- Vascular Anomalies (VASCA-WG)
The specific VASCERN Patient Group (ePAG) enables Patient representatives to work on common issues and to be
involved in all activities.
In addition, several transversal Working Groups work on eHealth, Training & Education, Patient Registry,
Ethics, Communication / Dissemination.
Our Action Plan will enable VASCERN to carry on with its work and reinforce its activities with
regard to various Work Packages detailed in this project proposal.
Start date: 01/03/2019 - End date: 28/02/2022

Call: Multiannual Grant Agreements for European Reference Networks
Topic: European Reference Network
3rd Health Programme (2014-2020)
European Reference Network on GEnetic TUmour RIsk Syndromes - GENTURIS [ERN GENTURIS]
ERN 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 multipl...
ERN 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.

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. The last 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: 01/03/2019 - End date: 28/02/2022

Call: Multiannual Grant Agreements for European Reference Networks
Topic: European Reference Network
3rd Health Programme (2014-2020)
European Reference Network for rare respiratory diseases (ERN-LUNG) [ERN-LUNG]
ERN-LUNG is a network of European patients and healthcare providers dedicated to ensuring and promoting excellence in care and research to the benefit of patients affected by rare respiratory diseases...
ERN-LUNG is a network of European patients and healthcare providers dedicated to ensuring and promoting excellence in care and research to the benefit of patients affected by rare respiratory diseases. ERN-LUNG’s vision is to be a European knowledge hub for rare respiratory diseases and to decrease morbidity and mortality from rare respiratory diseases in people of all ages. ERN-LUNG is a European Reference Network (ERN), a non-profit, international, professional, patient centred network. ERN-LUNG is focused on rare respiratory diseases and is made up of nine core networks representing the diversity of diseases and conditions affecting the lungs. The current core networks (sub-thematic areas) are interstitial lung diseases, cystic fibrosis, pulmonary hypertension, primary ciliary dyskinesia, non-CF bronchiectasis, alpha1-antitrypsin deficiency, mesothelioma, chronic lung allograft dysfunction, and other rare lung diseases. In addition to the sub-thematic groups, ERN-LUNG is also organized in functional committees tackling horizontal topics, affecting all of the current and future core networks of ERN-LUNG. These functional committees are Research and Clinical Trials, Ethical Issues, Registries and Biobanks, Patient Recorded Outcomes and Quality of Life, Quality Management, Physical Fitness and Training, Social Services, Guidelines and Best Practice of Care, Communication and Outreach, Cross Border Care, and Professional Training and Continued Medical Education. In building up on and learning from mature networks of recognized international excellence, ERN-LUNG will continue to grow, to establish registries and clinical trial networks, and add value for patients, healthcare providers, and professionals through dissemination of knowledge, enhancement of general expertise by learning from the best centres in rare respiratory diseases in Europe, and improvement of standards of care, quality of life and prognosis for the whole spectrum of rare pulmonary diseases.
Start date: 01/03/2019 - End date: 28/02/2022

Call: Multiannual Grant Agreements for European Reference Networks
Topic: European Reference Network
3rd Health Programme (2014-2020)
European Reference Network for Rare, Low Prevalence, Diagnosed and Undiagnosed Skin Disorders - Year 3 to 5 [ERN-Skin]
The ERN-Skin 3-year proposal for third to fifth year of the Framework Partnership agreement (FPA) n°739505 implementation builds upon the ERN-Skin year 1 and 2 achievements. It takes into considerati...
The ERN-Skin 3-year proposal for third to fifth year of the Framework Partnership agreement (FPA) n°739505 implementation builds upon the ERN-Skin year 1 and 2 achievements. It takes into consideration the recent development of the ERN IT platform (ERN Collaborative Platform and Clinical Patient Management System - CPMS) and the EU policy on ERN. The goals and activities are coherent with the ERN-Skin multiannual plan included into the FPA . By pooling expertise, the planned activities will contribute to achieve the ERN-Skin multiannual goals:
• Strengthen the ERN-Skin operational framework thanks to regular meetings of the ERN-Skin bodies, the management of the Brexit consequences and the integration of members or affiliates
• Cover the largest possible number of diagnosed but also undiagnosed rare and low prevalence skin disorders so that every patient finds a home in the ERN-Skin
• Provide reliable information on diseases and services thanks to the interactive directory update
• Further develop multidisciplinary management and facilite the mobility of expertise thanks to CPMS and cooperation with other ERNs and scientic societies
• Share and spread harmonized best practices thanks to the adaptation and development of guidelines and recommendations for health care professionals
• Develop health care professional skills thanks to courses, e-trainings and practical trainings
• Empower patients thanks to the development of specific patient education programmes
• Involve Member States with insufficient number of patients or lacking technology or expertise thanks to support to attend courses and access CPMS
• Develop, test and use of the Skin Phenotyping Ontology and Terminology App
• Issue recommendations for an ERN-Skin registry
Start date: 01/03/2019 - End date: 28/02/2022

Call: Multiannual Grant Agreements for European Reference Networks
Topic: European Reference Network
3rd Health Programme (2014-2020)
STarting an Adult Rare Tumor European Registry [STARTER]
This project aims to set-up a clinical registry for the European Reference Network (ERN) on Rare Adult Cancers (EURACAN) which is focusing on 10 out of the 12 families of rare cancers, each correspond...
This project aims to set-up a clinical registry for the European Reference Network (ERN) on Rare Adult Cancers (EURACAN) which is focusing on 10 out of the 12 families of rare cancers, each corresponding to a EURACAN “domain”.
This project will:
1. Develop the IT infrastructure of the Registry exploiting tools defined by the European Rare Disease Registry Infrastructure. The IT will be interoperable with other rare disease registries and compliant with the FAIR (findable, accessible, interoperable and reusable) principles.
2. Identify the core data set for each of the EURACAN domain. The core data set will include data on patient characteristics, exposure (disease, devices, procedures, treatments etc.) and outcomes. Standard terminology will be used to ensure the “semantic” interoperability.
3. Address ethical, legal and privacy issue to ensure the data collection establishing a legal structure to ensure legal agreements between all partners involved (related to use of data, IP, confidentiality, etc.).
4. Define the Registry governance to clarify the rules and procedures to access and manage the Registry.
5. Develop the sustainability strategy to secure future funding for data acquisition and management at the end of this project.
Different stakeholders including EURACAN members; rare cancer patients; researchers (including all disease-based collaborative groups for clinical and translational research on rare adult solid cancers); scientific societies will be informed and engaged in setting up and, more important, fully use the Registry also after the end of this project.
At the end of the project an infrastructure for the data collection will be available together with rules for transfer, accessing and use the data collected.
Within this project, the EURACAN Registry will start to prospectively collect clinical information on the entire patient journey, in order to increase knowledge on rare adult cancers and to support clinical research.

Start date: 01/04/2020 - End date: 31/03/2023

Call: Call for Proposals for Projects 2019
Topic: European Reference Network