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

doi:10.1186/s13023-024-03059-3

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Orphanet J Rare Dis. 2024 Feb 14;19(1):66. doi: 10.1186/s13023-024-03059-3.

Authors

Antonio Atalaia^#¹, Dagmar Wandrei^#², Nawel Lalout^{3

4}, Rachel Thompson⁵, Adrian Tassoni², Peter A C 't Hoen³, Dimitrios Athanasiou⁶, Suzie-Ann Baker⁶, Paraskevi Sakellariou⁷, Georgios Paliouras⁷, Carla D'Angelo⁸, Rita Horvath⁹, Michelangelo Mancuso¹⁰, Nadine van der Beek¹¹, Cornelia Kornblum¹², Janbernd Kirschner¹³, Davide Pareyson¹⁴, Guillaume Bassez¹⁵, Laura Blacas¹⁶, Maxime Jacoupy¹⁶, Catherine Eng¹⁷, François Lamy¹⁷, Jean-Philippe Plançon¹⁸, Jana Haberlova¹⁹, Esther Brusse¹¹, Janneke G J Hoeijmakers²⁰, Marianne de Visser²¹, Kristl G Claeys²², Carmen Paradas²³, Antonio Toscano²⁴, Vincenzo Silani²⁵, Melinda Gyenge¹⁵, Evy Reviers²⁶, Dalil Hamroun²⁷, Elisabeth Vroom⁶, Mark D Wilkinson²⁸, Hanns Lochmuller^{5

13}, Teresinha Evangelista²⁹

Affiliations

¹ Inserm Center of Research in Myology, Neuro-Myology Service G.H. Pitié-Salpêtrière, Sorbonne Université, Paris, France. antonio.marques-atalaia@inserm.fr.
² Clinical Trials Unit, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
³ Medical BioSciences Department, Radboud University Medical Center, Nijmegen, Netherlands.
⁴ Duchenne Parent Project, Veenendaal, The Netherlands.
⁵ Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
⁶ World Duchenne Organisation, Veenendaal, The Netherlands.
⁷ Duchenne Data Foundation, Bergen Op Zoom, The Netherlands.
⁸ European Reference Network for Rare Neuromuscular Diseases EURO-NMD, Institute of Myology, University Hospital Pitie-Salpetriere-APHP, Paris, France.
⁹ Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
¹⁰ Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
¹¹ Department of Neurology/Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
¹² Department of Neurology, Neuromuscular Diseases Section, University Hospital Bonn, Bonn, Germany.
¹³ Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
¹⁴ Unit of Rare Neurological Diseases. Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
¹⁵ Neuromuscular Diseases Reference Center, Pitié-Salpêtrière University Hospital, APHP Paris, Paris, France.
¹⁶ Association Institute of Myology, Hôpital Pitié-Salpêtrière, Paris, France.
¹⁷ Association Française Contre Les Myopathies, AFM-Téléthon, Evry, France.
¹⁸ European Patient Organisation for Dysimmune and Inflammatory Neuropathies, Paris, France.
¹⁹ Neuromuscular Center, University Hospital Motol, Prague, Czech Republic.
²⁰ Department of Neurology, Maastricht University Medical Center+, and MHeNS, School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
²¹ Department of Neurology, Amsterdam University Medical Center, Location Academic Medical Center, Amsterdam, The Netherlands.
²² Department of Neurology, University Hospitals Leuven, and Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, and Leuven Brain Institute (LBI), Louvain, Belgium.
²³ Hospital Universitario Virgen del Rocío/IBiS, Avda Manuel Siurot S/N, 41013, Seville, Andalucía, Spain.
²⁴ Department of Clinical and Experimental Medicine, AOU G. Martino Di Messina, University of Messina, Messina, Italy.
²⁵ Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.
²⁶ ALS Liga Belgium, Louvain, Belgium.
²⁷ CHRU de Montpellier, Direction de la Recherche et de L'Innovation, Hôpital La Colombière, Montpellier, France.
²⁸ 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), 28223, Madrid, ES, Spain.
²⁹ Neuromuscular Pathology Functional Unit; Neuropathology Service, Institute of Myology, University Hospital Pitié-Salpêtrière-APHP, Paris, France.

^# Contributed equally.

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.

Keywords: FAIR data; Neuromuscular Diseases; Rare Diseases; Registry; Registry Hub.

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

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