P.485 - European reference network for rare neuromuscular diseases: EURO-NMD

Abstract

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.