More than 700 inherited metabolic diseases (IMDs) have been identified so far. Each single IMD is a rare condition, but collectively IMDs are affecting at least one in 500 newborns. Clinical presentation of IMDs is wide-ranging from involvement of single organ systems to multi-systemic disease, confronting patients with significant and often severe health problems resulting in high morbidity, reduced life expectancy, and low quality of life.
For a limited number of IMDs networking activities already exist on a European or international level. The E-IMD, E-HOD and iNTD family of IMD registries has a relevant impact on improving the health of patients with IMDs and facilitates post-authorisation safety studies (PASS) for orphan drugs. However existing registries still do exclude a significant portion of IMDs and do not fulfill all core recommendations made by the European Union Committee of Experts on Rare Diseases (EUCERD). The recent inception of the European Reference Network for Hereditary Metabolic Diseases (MetabERN) lays the foundation for the development of an overarching European IT platform for IMD registries.
The project consists of 3 components: (1) a novel registry platform for all known IMDs, (2) an upgrade of existing IMD registries and (3) a collaboration with the European Rare Kidney Disease Reference Network (ERKNet). The new Unified European Registry for Inherited Metabolic Diseases (U-IMD) will encompass all known IMDs, fully implementing EUCERD recommendations. Data modules developed for U-IMD will be integrated in the existing IMD registries, with the iNTD registry as pilot, thus reaching interoperability of patient records. MetabERN and ERKNet will develop a common standard for minimal core data sets.
The U-IMD registry will follow an open multiple stakeholder approach, explicitly seeking collaborations with national and EU level health authorities, other scientific networks and consortia, patient and parent organizations and industry.

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Since 2011 the geopolitical instability in the Middle East and North Africa has been contributing to exceptional flows of migrants to South European countries. According to IOM estimates, 769,399 refugees and migrants crossed the Mediterranean Sea to reach Italy, Greece and Malta during the period 1 January - 6 November 2015. WHO does not recommend obligatory screening of refugee and migrant populations for diseases, because there is no clear evidence of benefits but strongly recommends offering and providing health checks at the entry points to ensure access to health care for all refugees and migrants in need of health protection, specific population groups (children, pregnant women, elderly) included. But migrant’s health deserves to be profoundly understood and clinical attitude accordingly adapted. That’s why migrants’ health needs are at the very centre of the today discussion and multidisciplinary teams identified as the most appropriate approach to tackle them. This model results to be effective particularly in approaching even more fragile subgroups, such as minors, pregnant women and victims of violence. The project, which can count upon the endorsement of 5 MS governments experiencing strong migration flows, deploys its potential throughout 8 WPs, all tailored addressing different aspects of migrant’s health, with a view to hosting societies. Among them, three WPs are horizontal, namely coordination, results dissemination and evaluation. Other WPs do sustain the health of migrants within the hotspots and migrants’ centres, produce evidence based instruments to manage health threats and syndromic surveillance, offer a way for tracking migrant’s health on the move, produces training and information material for health staff and general public as well as intervene into the public/private relationships to promote a new governance model for migration public policies.
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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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Rare diseases (RD) have been identified as one of the paradigmatic fields in which actions conducted at the European level constitute the adequate response to their specific problems: poor recognition leading to diagnostic delay and inappropriate management including adapted social services, poor health outcomes, social burden, limited knowledge on natural history and pathophysiology leading to an insufficient development of new therapies. The low prevalence and the specificity of RD make that a global, multi-stakeholder approach, intended to gather specific expertise and to build shared strategies is necessary to address these issues.
The general objectives of RD-Action are to:
▪ Support the further development and sustainability of the Orphanet database, the biggest global repository of information on RD
▪ Contribute to solutions to ensure an appropriate codification of RD in health information systems
▪ Continue implementation of the priorities identified in Council Recommendation 2009/C151/02 and the Commission Communication (COM 2008 679) on RD, with a view to ensuring the sustainability of the recommended priority actions and to support the work of the Commission Expert Group on Rare Diseases (CEGRD).
This JA will expand and consolidate the achievements of the former JAs on RD supported by the European Commission: the Orphanet JA and the EUCERD JA. More precisely, this proposal has the ambition to help member states to implement the recommended measures adopted or to be adopted by the CEGRD and to produce the data necessary for countries to do so. Interactions between the production of data at the Orphanet database level and the implementation of policy priorities including codification will be strengthened during this JA.RD-Action large geographical coverage is key to success as it will promote the transfer of European recommendations into national policies and the collection of information and concerns from MS to the CEGRD, thus to the European Commission.

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