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EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
A. Atalaia, D. Wandrei, N. Lalout, R. Thompson, A. Tassoni, PAC. 't Hoen, D. Athanasiou, SA. Baker, P. Sakellariou, G. Paliouras, C. D'Angelo, R. Horvath, M. Mancuso, N. van der Beek, C. Kornblum, J. Kirschner, D. Pareyson, G. Bassez, L. Blacas,...
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, přehledy
Grantová podpora
G1000848
Medical Research Council - United Kingdom
MR/N025431/2
Medical Research Council - United Kingdom
MR/V009346/1
Medical Research Council - United Kingdom
NLK
BioMedCentral
od 2006-12-01
BioMedCentral Open Access
od 2006
Directory of Open Access Journals
od 2006
Free Medical Journals
od 2006
PubMed Central
od 2006
Europe PubMed Central
od 2006
ProQuest Central
od 2009-01-01
Open Access Digital Library
od 2006-01-01
Open Access Digital Library
od 2006-01-01
Medline Complete (EBSCOhost)
od 2006-01-01
Health & Medicine (ProQuest)
od 2009-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2006
Springer Nature OA/Free Journals
od 2006-12-01
- MeSH
- lidé MeSH
- neuromuskulární nemoci * genetika MeSH
- registrace MeSH
- vzácné nemoci MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
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.
ALS Liga Belgium Louvain Belgium
Association Française Contre Les Myopathies AFM Téléthon Evry France
Association Institute of Myology Hôpital Pitié Salpêtrière Paris France
Children's Hospital of Eastern Ontario Research Institute Ottawa Canada
Department of Clinical Neurosciences University of Cambridge Cambridge UK
Department of Neurology Neuromuscular Diseases Section University Hospital Bonn Bonn Germany
Duchenne Data Foundation Bergen Op Zoom The Netherlands
Duchenne Parent Project Veenendaal The Netherlands
European Patient Organisation for Dysimmune and Inflammatory Neuropathies Paris France
Hospital Universitario Virgen del Rocío IBiS Avda Manuel Siurot S N 41013 Seville Andalucía Spain
Medical BioSciences Department Radboud University Medical Center Nijmegen Netherlands
Neuromuscular Center University Hospital Motol Prague Czech Republic
Neuromuscular Pathology Functional Unit
Neuropathology Service Institute of Myology University Hospital Pitié Salpêtrière APHP Paris France
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