EURO-NMD is a European Reference Network for the thematic grouping of rare neuromuscular diseases (NMDs), a broad group of related disorders that represent a major cause of mortality and lifelong disability in children and adults. NMDs are caused by acquired or genetic defects of motorneurons, peripheral nerves, neuromuscular junctions or skeletal muscle, resulting in muscle weakness and wasting, swallowing and breathing difficulties, and cardiac failure. NMDs are difficult to recognize, and patients experience long delays in diagnosis. No curative treatments yet exist for any NMD and their rarity and diversity pose specific challenges for healthcare and research, and for the development and marketing of therapies. NMDs collectively affect an estimated 500,000 EU citizens and result in significant costs for families and the healthcare system. EURO-NMD unites 61 of Europe’s leading NMD clinical and research centres in 14 Member States and includes highly active patient organizations. More than 100,000 NMD patients are seen annually by the ERN. The network addresses harmonizing and implementing standards for clinical and diagnostic best practice, improving equity of care provision across Member States, decreasing time to diagnosis, increasing cost efficiency through better care pathways, access to specialist training and education, application of eHealth services, development and application of care guidelines, facilitating translational and clinical research, harmonising data and samples for research reuse, and sharing of high-quality data. EURO-NMD partners will form the backbone for national implementation of best practice NMD care and will form trusted partnerships with payers, national health systems and RD national plans. Ultimately, EURO-NMD will improve health outcomes in NMD patients across Europe, provide new opportunities for translational research, and reduce the burden of these chronic disabling conditions for families and healthcare systems in Europe.
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Rare Immunodeficiency, AutoInflammatory and AutoImmune Disease Network (RITA)

RITA brings together the leading European centres with expertise in diagnosis and treatment of
rare immunological disorders. These constitute potentially life-threatening conditions requiring
multidisciplinary care using complex diagnostic evaluation and highly specialized therapies for the
following sub-themes:
1. Primary immunodeficiency (PID),
2. Autoimmune and
3. Autoinflammatory disorders.
In addition, we include a sub-theme of “Paediatric Rheumatology” which straddles the
Autoimmune and Autoinflammatory sub-themes. The PID field has evolved from identification of
rare immunodeficiencies broadly predisposing to infection, to the recognition of specific rare
immune disorders with increased susceptibility to defined pathogens, to disturbed
immunoregulatory balances and defective tolerance to self-antigens. Thus, defined errors in the
immune system result not only in the clinical entities of immune deficiency, autoimmunity and
autoinflammation, but also in conditions with features of 2 or 3 of these pathologic processes. We
believe that the logical next chapter in this convergence is RITA.



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ERN-EYE will set up a European Reference Network for Rare Eye Diseases (RED). RED is a large group rare diseases, with great genetic and phenotypical heterogeneity, and with complex or non-existing therapies. All together RED represent the first cause of blindness in children and young adults. Patient groups are highly involved in stimulating innovation towards clinical trials. The medical care organisation in the field of RED has remained centred at a national level, thus creating inequalities in care. The mission of ERN-EYE is to bring together knowledge, new and existing resources and expertise across the EU to facilitate access to a better, multidisciplinary, safer, high-quality, cost-effective, and cross-border healthcare system for all the European citizens affected by RED.
The heart of ERN-EYE lies in the creation of a virtual Rare Eye Diseases Clinic: EyeClin. Eyeclin will encompass the main subspecialties with RED at the level of the retina, the anterior segment, paediatrics and neuropathology. Genetic testing will be a major transversal topic as well as low vision aids. Via EyeClin, the European healthcare providers will have access to the available EU resources, knowledge and expertise. Furthermore, ERN-EYE will share and spread information and knowledge within and outside the network, collaborating closely at national and international level. Main activities within ERN-EYE will include a dedicated training programme; clinical guidelines and best clinical practices; launching and support for registries for epidemiology surveillance, clinical trial empowerment; sharing of information about highly innovative genetic tests and bottom-up research projects.
Overall, ERN-EYE will be an EU hub aiming to deliver high quality and accessible healthcare for patients with an emphasis on rapid translation of medical progresses with the maximum coverage at the EU level.

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