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- Title
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
- Authors
Atalaia, Antonio; Wandrei, Dagmar; Lalout, Nawel; Thompson, Rachel; Tassoni, Adrian; 't Hoen, Peter A. C.; Athanasiou, Dimitrios; Baker, Suzie-Ann; Sakellariou, Paraskevi; Paliouras, Georgios; D'Angelo, Carla; Horvath, Rita; Mancuso, Michelangelo; van der Beek, Nadine; Kornblum, Cornelia; Kirschner, Janbernd; Pareyson, Davide; Bassez, Guillaume; Blacas, Laura; Jacoupy, Maxime
- 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.
- Subjects
TECHNOLOGICAL innovations; MEDICAL registries; NEUROMUSCULAR diseases; PATIENT reported outcome measures; INFORMATION sharing; ACQUISITION of data
- Publication
Orphanet Journal of Rare Diseases, 2024, Vol 19, Issue 1, p1
- ISSN
1750-1172
- Publication type
Article
- DOI
10.1186/s13023-024-03059-3