We propose a European Reference Network for the care of individuals with rare and complex epilepsy – EpiCARE. This will build on the successful pilot ERN E-pilepsy developed to raise awareness and availability of epilepsy surgery. The rare and complex epilepsies form a group of >137 diseases where epilepsy is the predominant feature with an impact on neurodevelopment, Quality of Life and mortality. Many more remain unrecognised. We have a network of 28 centres from 13 countries, all fulfilling the core criteria for expertise in this group of patients. EpiCARE will draw on this expertise to facilitate the diagnosis, care and management of individuals with rare and complex epilepsies across Europe. This will be through the delivery of care utilising e-health, developed by a series of workpackages (core networks) optimising diagnosis through access to specialised laboratory diagnostics, neuroimaging review, neurophysiology, neuropsychology, and neuropathology and optimising therapeutics by targeted therapies, surgery (through continuation of the E-pilepsy pilot ERN), and dietary intervention. The network will care for the epilepsies through all ages from birth to old age, with a specific group for neonatal seizures, and a coordinated work on transition between age groups. A series of sub networks will ensure the coordination and development of the network, with the utilisation of registries, and dissemination to stakeholders. Harmonisation of care will be promoted through the accessibility of the experts, availability of guidelines and facilitation of education and training. Data will be collated to enable design of clinical trials, with common outcome data elements, and to address research priorities. The EpiCARE network for rare and complex epilepsies will reduce the geographical inequalities and knowledge gap through utilisation of e-health and thus improve the outcomes of these patients substantially.
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Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
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This proposal is to support the delivery of ERN-RARE-LIVER, the European Reference Network (ERN) in rare hepatological diseases. Liver disease is a major and growing problem in the European population. The expansion in clinical need because of increasing disease impact has not been matched by expansion in the clinical workforce leading to a relative lack of expertise. The challenge is particularly acute in rare liver disease; a setting in which Europe leads the world in terms of academic innovation. The ERN model is particularly attractive in the setting of rare liver disease as it will foster the development of ‘virtual critical mass’ across European centres with benefits in terms of clinical care deliver, teaching and training and research capacity. Supported by the relevant professional societies (The European Association for the Study of the Liver EASL) and the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN), the community of our field. Covering all ranges, from paediatric to adult through transitional care, ERN-RARE-LIVER has 3 themes reflecting important disease groupings (Autoimmune Liver Disease; Metabolic, Biliary Atresia and Related Disease; Structural Liver Disease) with a coherent plant to increase both our disease scope and geographical coverage. We will improve patient care directly through our work on guideline optimisation, care pathway development and the implementation of a model of “TELE-BOARDS” with multi-centre discussion of complex and challenging cases. We will also facilitate improvement in diagnostics capacity through development of quality assurance programmes in serology and histopathology, and case referral pathways to support centres lacking diagnostic technology. Our training and research programmes will enhance care delivery through increase in the trained workforce and knowledge respectively.
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Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
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The European Reference Network for rare Hereditary Metabolic Diseases (MetabERN) aims to facilitate access to the best available care and address the needs across the border of all patients affected by rare inherited metabolic diseases (IMDs) and their families. It is unprecedented that a pan-EU Network covers expertise encompassing all the IMDs (over 700) regardless of their incidence and prevalence, severity, availability of treatment and characteristics of patient population. The MetabERN is driven by the principle of patient-centeredness for the provision of its services aiming at improving the quality of life of patients and families. In this spirit, family associations (FAs) play a crucial role into the planning and decision-making system related to patient care and management as well as policy activities impacting on the EU Rare Disease Policy Agenda. World-known experts will work hand-in-hand with FAs to develop guidelines for accurate diagnosis and optimal management of IMDs in order to strengthen referral systems across the border. MetabERN will facilitate access to treatment by channeling expertise through virtual and web-based platforms to minimize patient mobility. MetabERN will serve as a hub of knowledge and information by connecting the most relevant scientific associations and EU established networks in this area. A structured collaboration is activated with other European Reference Networks with overlapping disease areas to ensure that patients receive the best available care. Knowledge of IMDs will increase among target groups, mainly Healthcare Professionals, Patients and Researchers, thanks to the tailored training activities that will be developed after a thorough check of their needs. Early uptake of medical advances will be bolstered by developing recommendations to overcome the barriers to translational research. Our focus on safety and cost-effective treatments will drive the future IMD research agenda for the next 10 years.
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Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
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