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.


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.



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.
