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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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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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.
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ACT@Scale is an innovative partnership of leading European health care regions, industry and academia that have the true potential to transform cure and care delivery services from pilots and experiments to scaled up, routine management of frail elderly and chronically ill. ACT@Scale will develop, test and consolidate “best practice” Care Coordination and Telehealth (CC & TH) concepts that can be leveraged by the participating healthcare regions to expedite scaling-up their services, but also transferred to other regions through Europe and beyond. The scaling-up of “best practice” ACT@Scale CC & TH concepts is fully in line with the EIP on AHA and the EC scaling-up strategy, will facilitates concrete decision-making at EU policy level, and shows payers, practitioners and providers how patient care can be improved in light of an ageing society and under restricted budgets.ACT@Scale is targeting integrated care good practices in Basque Country, Catalonia, Groningen, Northern Ireland and South Denmark that are all in the process of implementing novel CC&TH processes at scale. The target groups are populations of chronic patients and elderly people with special needs including social services, frailty and psychiatric morbidities. The key challenges to be studied are:• Political, legal and financial alignment• Sufficient coverage of dynamic population needs• Coordination between care delivery partners• Commitment to changing care delivery• Patient role is his own care• Monitoring and evaluating scaling-upThese key areas will show over the three year course of ACT@Scale how technology and services can ensure the best clinical and economic outcomes. A holistic assessment will be performed based on an agreed minimum dataset of indicators and with the support of a distributed Evaluation Engine.The ACT@Scale activity builds on the expertise and experiences of the ACT program and will use tested and tried collaborative methods and tools to implement improvements
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