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.
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Under ERN-ITHACA’s umbrella, we plan to develop a single “meta-registry” (ILIAD) of patients with developmental anomalies (dysmorphic/multiple malformations syndromes and/or intellectual disability) recruited in ERN ITHACA, ,patients with several developmental disorders affecting the head recruited by ERN-CRANIO and connective tissue disorders recruited by ERN SKIN. ILIAD will register 3 types of patients: genetically-defined patients (patients must have a genetic/genomic diagnosis to be recorded), clinically defined patients (patients must have a precise clinical diagnosis with a disease-level ORPHA code), and undiagnosed patients. ILIAD will rely on the JRC common data element, enriched by ITHACA specific elements. Effort will also be done to connect ILIAD with external European registries, both professional-driven and patients-driven, and with biobanks.
ILIAD registry relies on 2 components: a central,web-based registry and a network of satellite/client registries linked to the central registry to form the ITHACA registry federation. ILIAD will be build with the existing software solutions from MOLGENIS open source project.. To support findability and interoperability of the ILIAD, the registry will be connected to the European Rare Disease Registry Infrastructure (ERDRI) provided by the JRC, by listing the ILIAD in the European Directory of Registries (ERDRI.dor), making the meta-data available in the Central Metadata Repository (ERDRI.mdr), and using the Pseudonymisation Tool (EUPID) to allow linking RD patients cohorts. In addition, all data will be modelled adhering to international interoperability standards and building on FAIR systems as developed in and coordinated by EJP-RD, Global Alliance for Genomics and Health and Solve-RD, and more generally, Biobanking and Biomolecular Resources Research Infrastructure - European Research Infrastructure Consortium and the European Life-sciences Infrastructure for biological Information.

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ERN-EYE (represented by Hôpitaux Universitaires de Strasbourg) will transform the current Rare Eye Disease (RED) landscape in Europe, which consists of >24000 patients treated in our centres, suffering from >1000 ophthalmologic conditions, by developing an interoperable, sustainable and high-quality core patient registry for RED (i.e. REDgistry). With REDgistry, we will tackle the issues that impair the currently operational RED registries in the 13 ERN-EYE countries: lack of shared standards, absence of cross-registry interoperability, instable funding, legal uncertainty, inconsistent data quality, and absence of data sharing procedures.

Hence, we aim at i) creating a harmonised high-quality GDPR-compliant registry developed in accordance to the FAIR principles (i.e. Findable, Accessible, Interoperable and Reusable), ii) entering the ad hoc cases while controlling and evaluating the data, iii) ensuring its long-term sustainability, iv) engaging the key REDgistry stakeholders. These objectives will be achieved by 1) establishing a sound governance and long-term sustainability strategy, 2) developing and implementing the IT platform, and 3) entering, cleaning and evaluating the data.
REDgistry will enable the performance of epidemiology studies on RED, improve identification of currently undiagnosed RED patients, increase patient access to novel treatments and clinical trials, and enhance RED research capabilities through international cooperation, knowledge sharing and the future development of interoperable disease-specific registries. The final outputs of the REDgistry project will be an operational basic registry with a common dataset enrolled in the European Rare Disease Registry Infrastructure, a specific ophthalmic dataset, an established governance structure for the registry, a report on the preliminary epidemiology of RED in Europe, a dissemination & communication plan to raise awareness of REDgistry, and a sound economic plan to ensure its sustainability.
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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.
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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)
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