BACKGROUND: The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impactful. The consenting process covers other uses, such as research, cohort finding and trial readiness. RESULTS: The registry has three-layered datasets, with European Commission-mandated data elements (EU-CDEs), a set of cross-neuromuscular data elements (NMD-CDEs) and a dataset of disease-specific data elements that function modularly (DS-DEs). The registry captures clinical, neuromuscular imaging, neuromuscular histopathology, biological and genetic data and patient-reported outcomes in a computer-interpretable format using selected ontologies and classifications. The EURO-NMD registry is connected to the EURO-NMD Registry Hub through an interoperability layer. The Hub provides an entry point to other neuromuscular registries that follow the FAIR data stewardship principles and enable GDPR-compliant information exchange. Four national or disease-specific patient registries are interoperable with the EURO-NMD Registry, allowing for federated analysis across these different resources. CONCLUSIONS: Collectively, the Registry Hub brings together data that are currently siloed and fragmented to improve healthcare and advance research for neuromuscular diseases.

ALS Liga Belgium Louvain Belgium

Association Française Contre Les Myopathies AFM Téléthon Evry France

Association Institute of Myology Hôpital Pitié Salpêtrière Paris France

Children's Hospital of Eastern Ontario Research Institute Ottawa Canada

CHRU de Montpellier Direction de la Recherche et de L'Innovation Hôpital La Colombière Montpellier France

Clinical Trials Unit Medical Center University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany

Departamento de Biotecnología Biología Vegetal Escuela Técnica Superior de Ingeniería Agronómica Alimentaria y de Biosistemas Centro de Biotecnología y Genómica de Plantas UPM INIA Universidad Politécnica de Madrid 28223 Madrid ES Spain

Department of Clinical and Experimental Medicine AOU G Martino Di Messina University of Messina Messina Italy

Department of Clinical and Experimental Medicine Neurological Institute University of Pisa Pisa Italy

Department of Clinical Neurosciences University of Cambridge Cambridge UK

Department of Neurology Amsterdam University Medical Center Location Academic Medical Center Amsterdam The Netherlands

Department of Neurology and Laboratory of Neuroscience IRCCS Istituto Auxologico Italiano Milan Italy

Department of Neurology Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center Rotterdam The Netherlands

Department of Neurology Maastricht University Medical Center and MHeNS School for Mental Health and Neuroscience Maastricht University Maastricht The Netherlands

Department of Neurology Neuromuscular Diseases Section University Hospital Bonn Bonn Germany

Department of Neurology University Hospitals Leuven and Laboratory for Muscle Diseases and Neuropathies Department of Neurosciences KU Leuven and Leuven Brain Institute Louvain Belgium

Department of Neuropediatrics and Muscle Disorders Faculty of Medicine Medical Center University of Freiburg Freiburg Germany

Duchenne Data Foundation Bergen Op Zoom The Netherlands

Duchenne Parent Project Veenendaal The Netherlands

European Patient Organisation for Dysimmune and Inflammatory Neuropathies Paris France

European Reference Network for Rare Neuromuscular Diseases EURO NMD Institute of Myology University Hospital Pitie Salpetriere APHP Paris France

Hospital Universitario Virgen del Rocío IBiS Avda Manuel Siurot S N 41013 Seville Andalucía Spain

Inserm Center of Research in Myology Neuro Myology Service G H Pitié Salpêtrière Sorbonne Université Paris France

Medical BioSciences Department Radboud University Medical Center Nijmegen Netherlands

Neuromuscular Center University Hospital Motol Prague Czech Republic

Neuromuscular Diseases Reference Center Pitié Salpêtrière University Hospital APHP Paris Paris France

Neuromuscular Pathology Functional Unit; Neuropathology Service Institute of Myology University Hospital Pitié Salpêtrière APHP Paris France

Unit of Rare Neurological Diseases Department of Clinical Neurosciences Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

World Duchenne Organisation Veenendaal The Netherlands

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