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

FAIR data Neuromuscular Diseases Rare Diseases Registry Registry Hub

Journal

Orphanet journal of rare diseases

ISSN: 1750-1172

Titre abrégé: Orphanet J Rare Dis

Pays: England

ID NLM: 101266602

Informations de publication

Date de publication:
14 Feb 2024

Historique:

received: 12 06 2023

accepted: 03 02 2024

medline: 15 2 2024

pubmed: 15 2 2024

entrez: 14 2 2024

Statut: epublish

Résumé

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. 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. Collectively, the Registry Hub brings together data that are currently siloed and fragmented to improve healthcare and advance research for neuromuscular diseases.

Sections du résumé

BACKGROUND BACKGROUND

RESULTS 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 CONCLUSIONS

Collectively, the Registry Hub brings together data that are currently siloed and fragmented to improve healthcare and advance research for neuromuscular diseases.

Identifiants

DOI: 10.1186/s13023-024-03059-3 PMID: 38355534

pubmed: 38355534

doi: 10.1186/s13023-024-03059-3

pii: 10.1186/s13023-024-03059-3

doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

Pagination

Subventions

Organisme : Third Health Programme

ID : 947598

Informations de copyright

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