EURO-NMD is a clinically oriented approach to the thematic grouping of neuromuscular disorders that builds on many years of networking experience in the NMD field. NMDs include a broad group of diseases with overall prevalence of 1/3500-1/2500 that represent a major cause of mortality and morbidity in children and adults. Their rarity and diversity pose specific challenges for healthcare provision and research. While individually rare, NMDs collectively affect an estimated 500,000 patients in Europe and result in life-long disabilities with significant costs for families and the healthcare system. Regional and national differences in care and incomplete implementation of standards lead to international disparities and divergent outcomes for NMD patients. NMD patients often lack timely and accurate diagnosis, and this impacts on survival and quality of life. Even patients with a condition diagnosable with existing gene tests typically wait 7 years for diagnosis – EURO-NMD aims to decrease time to diagnosis through implementation of diagnostic guidelines. A further 30% may remain without a confirmed genetic diagnosis after extensive testing. Through next-generation sequencing EURO-NMD aims to diagnose a further 15% of patients within the 5-year period. The ERN is a partner in the SOLVE-RD project that aims exactly at solving the unsolved cases and is also a partner in the EJP-RD. NMDs require a multidisciplinary team experienced in the specific clinical needs of the conditions comprising the ERN sub-groups: muscle, nerve, motor neuron, mitochondrial and neuromuscular junction diseases. During the last 2 years the working groups have collected and endorsed guidelines and standard operating procedures in collaboration with the learned societies. For the future the ERN aims to increase the teaching initiatives either through teaching courses, e-learning activities or supporting the networking of young professionals.
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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 supports the European Reference Network (ERN) in rare hepatological disease. 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 ERN model is attractive for rare liver disease as it fosters the development of "virtual critical mass" across European centers with benefits in terms of clinical care delivery, teaching, training and research capacity. The ERN covers both adult and paediatric patents in the disease groupings (Autoimmune Liver Disease; Metabolic Biliary Atresia and related diseases; Structural Liver Disease) with a coherent plan to increase both disease scope and geographical coverage. Patient care will be improved through work on guidelines, care pathway development and the use of the Clinical Patient Management System for multi-centre discussion of complex cases. We also facilitate improvement in diagnostics capacity through development of quality assurance programmes in serology and hisopathology 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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Birth defects may result in death, chronic illness or long term disability with a significant impact on individuals, families, health care systems and societies. Many birth defects are also associated with intellectual disability as part of rarer patterns or syndromes and require multidisciplinary care. More than 8000 rare syndromes have been described. Thus although rare these are collectively important conditions. They may have genetic, environmental and multifactorial causes but in 50% of cases the cause is currently unknown. Identifying causes and studying the natural history of multiple anomaly syndromes and rare forms of syndromal or non-syndromal intellectual disabilities guides management or treatment, provides answers for families and healthcare professionals, furthers understanding of normal development through research and may lead to prevention. All of these will have significant health economic benefits and guide commissioning of future services. However, expertise in the study of these conditions is limited to a few experts, in major healthcare centres. In some EU member states the specialty of syndrome diagnosis and management is not well established, there is no specialist training and there are few clinical and laboratory resources. We propose to continue the patient-centred European Reference Network for Rare Malformations and Intellectual Disability, ITHACA, which aims to meet the needs of patients, both diagnosed and undiagnosed. ITHACA works to improve access to diagnostic expertise by utilizing an innovative telehealth approach and guiding quality assured diagnostic testing.
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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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