Orphanet Journal of Rare Diseases (Feb 2024)
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
- Antonio Atalaia,
- Dagmar Wandrei,
- Nawel Lalout,
- Rachel Thompson,
- Adrian Tassoni,
- Peter A. C. ’t Hoen,
- Dimitrios Athanasiou,
- Suzie-Ann Baker,
- Paraskevi Sakellariou,
- Georgios Paliouras,
- Carla D’Angelo,
- Rita Horvath,
- Michelangelo Mancuso,
- Nadine van der Beek,
- Cornelia Kornblum,
- Janbernd Kirschner,
- Davide Pareyson,
- Guillaume Bassez,
- Laura Blacas,
- Maxime Jacoupy,
- Catherine Eng,
- François Lamy,
- Jean-Philippe Plançon,
- Jana Haberlova,
- Esther Brusse,
- Janneke G. J. Hoeijmakers,
- Marianne de Visser,
- Kristl G. Claeys,
- Carmen Paradas,
- Antonio Toscano,
- Vincenzo Silani,
- Melinda Gyenge,
- Evy Reviers,
- Dalil Hamroun,
- Elisabeth Vroom,
- Mark D. Wilkinson,
- Hanns Lochmuller,
- Teresinha Evangelista
Affiliations
- Antonio Atalaia
- Inserm Center of Research in Myology, Neuro-Myology Service G.H. Pitié-Salpêtrière, Sorbonne Université
- Dagmar Wandrei
- Clinical Trials Unit, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg
- Nawel Lalout
- Medical BioSciences Department, Radboud University Medical Center
- Rachel Thompson
- Children’s Hospital of Eastern Ontario Research Institute
- Adrian Tassoni
- Clinical Trials Unit, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg
- Peter A. C. ’t Hoen
- Medical BioSciences Department, Radboud University Medical Center
- Dimitrios Athanasiou
- World Duchenne Organisation
- Suzie-Ann Baker
- World Duchenne Organisation
- Paraskevi Sakellariou
- Duchenne Data Foundation
- Georgios Paliouras
- Duchenne Data Foundation
- Carla D’Angelo
- European Reference Network for Rare Neuromuscular Diseases EURO-NMD, Institute of Myology, University Hospital Pitie-Salpetriere-APHP
- Rita Horvath
- Department of Clinical Neurosciences, University of Cambridge
- Michelangelo Mancuso
- Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa
- Nadine van der Beek
- Department of Neurology/Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center
- Cornelia Kornblum
- Department of Neurology, Neuromuscular Diseases Section, University Hospital Bonn
- Janbernd Kirschner
- Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center – University of Freiburg
- Davide Pareyson
- Unit of Rare Neurological Diseases. Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta
- Guillaume Bassez
- Neuromuscular Diseases Reference Center, Pitié-Salpêtrière University Hospital, APHP Paris
- Laura Blacas
- Association Institute of Myology, Hôpital Pitié-Salpêtrière
- Maxime Jacoupy
- Association Institute of Myology, Hôpital Pitié-Salpêtrière
- Catherine Eng
- Association Française Contre Les Myopathies, AFM-Téléthon
- François Lamy
- Association Française Contre Les Myopathies, AFM-Téléthon
- Jean-Philippe Plançon
- European Patient Organisation for Dysimmune and Inflammatory Neuropathies
- Jana Haberlova
- Neuromuscular Center, University Hospital Motol
- Esther Brusse
- Department of Neurology/Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center
- Janneke G. J. Hoeijmakers
- Department of Neurology, Maastricht University Medical Center+, and MHeNS, School for Mental Health and Neuroscience, Maastricht University
- Marianne de Visser
- Department of Neurology, Amsterdam University Medical Center, Location Academic Medical Center
- Kristl G. Claeys
- Department of Neurology, University Hospitals Leuven, and Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, and Leuven Brain Institute (LBI)
- Carmen Paradas
- Hospital Universitario Virgen del Rocío/IBiS
- Antonio Toscano
- Department of Clinical and Experimental Medicine, AOU G. Martino Di Messina, University of Messina
- Vincenzo Silani
- Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano
- Melinda Gyenge
- Neuromuscular Diseases Reference Center, Pitié-Salpêtrière University Hospital, APHP Paris
- Evy Reviers
- ALS Liga Belgium
- Dalil Hamroun
- CHRU de Montpellier, Direction de la Recherche et de L’Innovation, Hôpital La Colombière
- Elisabeth Vroom
- World Duchenne Organisation
- Mark D. Wilkinson
- 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 (UPM), Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA/CSIC)
- Hanns Lochmuller
- Children’s Hospital of Eastern Ontario Research Institute
- Teresinha Evangelista
- Neuromuscular Pathology Functional Unit; Neuropathology Service, Institute of Myology, University Hospital Pitié-Salpêtrière-APHP
- DOI
- https://doi.org/10.1186/s13023-024-03059-3
- Journal volume & issue
-
Vol. 19,
no. 1
pp. 1 – 15
Abstract
Abstract 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.
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