학술논문
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
Document Type
article
Author
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
Source
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Subject
Language
English
ISSN
1750-1172
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.