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

Published version
Peer-reviewed

Repository DOI


Change log

Authors

Wandrei, Dagmar 
Lalout, Nawel 
Thompson, Rachel 
Tassoni, Adrian 

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.

Description

Keywords

FAIR data, Neuromuscular Diseases, Rare Diseases, Registry, Registry Hub, Humans, Registries, Neuromuscular Diseases, Rare Diseases

Journal Title

Orphanet J Rare Dis

Conference Name

Journal ISSN

1750-1172
1750-1172

Volume Title

19

Publisher

Springer Science and Business Media LLC
Sponsorship
Medical Research Council (MR/N025431/2)
MRC (MR/V009346/1)