{"doi":"10.1186/s13023-024-03059-3","title":"EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders","abstract":"<h4>Background</h4>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.<h4>Results</h4>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.<h4>Conclusions</h4>Collectively, the Registry Hub brings together data that are currently siloed and fragmented to improve healthcare and advance research for neuromuscular diseases.","journal":"Orphanet Journal of Rare Diseases","year":2024,"id":1593,"datarank":1.1197543817568951,"base_score":2.9444389791664403,"endowment":2.9444389791664403,"self_citation_contribution":0.44166584687496613,"citation_network_contribution":0.678088534881929,"self_endowment_contribution":0.44166584687496613,"citer_contribution":0.678088534881929,"corpus_percentile":59.15378356387307,"corpus_rank":503,"citation_count":19,"citer_count":15,"citers_with_citation_signal":11,"citers_with_endowment":11,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.7679,"is_oa":true,"file_count":0,"downloads":110,"has_version_chain":false,"published_date":"2024-02-14","fair_score":58.125,"fair_percentile":91.84256816182938,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":18276,"name":"Dagmar Wandrei","orcid":"0000-0002-8144-162X","position":1,"is_corresponding":false},{"id":7092,"name":"Nawel Lalout","orcid":"0000-0003-3707-8373","position":2,"is_corresponding":false},{"id":18277,"name":"Rachel Thompson","orcid":"0000-0002-6889-0121","position":3,"is_corresponding":false},{"id":18278,"name":"Adrian Tassoni","orcid":"0000-0001-5392-4125","position":4,"is_corresponding":false},{"id":18280,"name":"Dimitrios Athanasiou","orcid":"0000-0002-1140-1286","position":6,"is_corresponding":false},{"id":18281,"name":"Suzie-Ann Baker","orcid":null,"position":7,"is_corresponding":false},{"id":18282,"name":"Paraskevi Sakellariou","orcid":null,"position":8,"is_corresponding":false},{"id":18284,"name":"Carla D’Angelo","orcid":null,"position":10,"is_corresponding":false},{"id":18285,"name":"Rita Horvath","orcid":null,"position":11,"is_corresponding":false},{"id":18286,"name":"Michelangelo Mancuso","orcid":"0000-0003-2738-8562","position":12,"is_corresponding":false},{"id":18287,"name":"Nadine van der Beek","orcid":null,"position":13,"is_corresponding":false},{"id":18288,"name":"Cornelia Kornblum","orcid":"0000-0002-0111-7281","position":14,"is_corresponding":false},{"id":18289,"name":"Janbernd Kirschner","orcid":null,"position":15,"is_corresponding":false},{"id":18290,"name":"Davide Pareyson","orcid":"0000-0001-6854-765X","position":16,"is_corresponding":false},{"id":18291,"name":"Guillaume Bassez","orcid":null,"position":17,"is_corresponding":false},{"id":18292,"name":"Laura Blacas","orcid":null,"position":18,"is_corresponding":false},{"id":18293,"name":"Maxime Jacoupy","orcid":"0000-0003-1841-7747","position":19,"is_corresponding":false},{"id":18294,"name":"Catherine Eng","orcid":null,"position":20,"is_corresponding":false},{"id":18295,"name":"François Lamy","orcid":"0000-0001-6542-1381","position":21,"is_corresponding":false},{"id":18296,"name":"Jean-Philippe Plançon","orcid":null,"position":22,"is_corresponding":false},{"id":18297,"name":"Jana Haberlova","orcid":null,"position":23,"is_corresponding":false},{"id":18298,"name":"Esther Brusse","orcid":"0000-0002-1452-2219","position":24,"is_corresponding":false},{"id":18299,"name":"Janneke G. J. Hoeijmakers","orcid":"0000-0001-6940-0027","position":25,"is_corresponding":false},{"id":18300,"name":"Marianne de Visser","orcid":null,"position":26,"is_corresponding":false},{"id":18301,"name":"Kristl G. Claeys","orcid":"0000-0001-9937-443X","position":27,"is_corresponding":false},{"id":18302,"name":"Carmen Paradas","orcid":"0000-0002-6917-2236","position":28,"is_corresponding":false},{"id":18303,"name":"Antonio Toscano","orcid":null,"position":29,"is_corresponding":false},{"id":18304,"name":"Vincenzo Silani","orcid":"0000-0002-7698-3854","position":30,"is_corresponding":false},{"id":18305,"name":"Melinda Gyenge","orcid":null,"position":31,"is_corresponding":false},{"id":18306,"name":"Evy Reviers","orcid":"0000-0002-6044-5234","position":32,"is_corresponding":false},{"id":18307,"name":"Dalil Hamroun","orcid":"0000-0002-4853-8227","position":33,"is_corresponding":false},{"id":18308,"name":"Elisabeth Vroom","orcid":null,"position":34,"is_corresponding":false},{"id":606,"name":"Mark D D. Wilkinson","orcid":"0000-0001-6960-357X","position":35,"is_corresponding":false},{"id":18310,"name":"Teresinha Evangelista","orcid":"0000-0002-1329-9131","position":37,"is_corresponding":false},{"id":12985,"name":"Peter A.C. ’t Hoen","orcid":"0000-0003-4450-3112","position":38,"is_corresponding":false},{"id":18311,"name":"Γεώργιος Παλιούρας","orcid":"0000-0001-9629-2367","position":39,"is_corresponding":false},{"id":18312,"name":"Rita Horváth","orcid":"0000-0002-9841-170X","position":40,"is_corresponding":false},{"id":18313,"name":"Nadine A. M. E. van der Beek","orcid":"0000-0001-9161-3301","position":41,"is_corresponding":false},{"id":18314,"name":"Jean‐Philippe Plançon","orcid":null,"position":42,"is_corresponding":false},{"id":18315,"name":"Jana Haberlová","orcid":null,"position":43,"is_corresponding":false},{"id":18317,"name":"Hanns Lochmüller","orcid":"0000-0003-2324-8001","position":45,"is_corresponding":false},{"id":18275,"name":"Antonio Atalaia","orcid":"0000-0002-9345-0953","position":0,"is_corresponding":true}],"reference_count":26,"raw_metadata":null,"created_at":"2026-03-01T18:20:47.508186Z","pmid":"38355534","pmcid":"PMC10865673","fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":"gold","license":"cc-by","views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":77.5,"fair_a":67.5,"fair_i":37.5,"fair_r":50.0,"fair_zscore":1.1681,"fair_rationale":{"fair_score":58.12,"has_llm":true,"dimensions":{"F":{"name":"Findable","score":77.5,"criteria":[{"key":"f_has_doi","label":"Has a persistent DOI","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"DOI present","rationale":null},{"key":"f_repository_presence","label":"Indexed in repositories / literature DBs","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"datacite=0, pmcid=True, pmid=True","rationale":null},{"key":"f_persistent_ids","label":"Resolvable scholarly identifiers (OpenAlex)","kind":"deterministic","weight":0.5,"fraction":0.0,"signal":"no OpenAlex id","rationale":null},{"key":"f_metadata_richness","label":"Rich, machine-readable metadata","kind":"llm","weight":1.0,"fraction":0.75,"signal":null,"rationale":"The paper describes the use of selected ontologies (HPO, ORDO, HGVS, OMIM) and a codebook, but does not provide evidence that metadata are fully machine-readable or that the registry is registered in a machine-searchable index beyond the ERDRI platform."}]},"A":{"name":"Accessible","score":67.5,"criteria":[{"key":"a_open_access","label":"Open Access / files deposited","kind":"deterministic","weight":1.5,"fraction":1.0,"signal":"Open Access","rationale":null},{"key":"a_retrievable","label":"Free full text retrievable","kind":"deterministic","weight":1.0,"fraction":0.0,"signal":"0 OA location(s)","rationale":null},{"key":"a_access_protocol","label":"Clear data/code access protocol","kind":"llm","weight":1.0,"fraction":0.75,"signal":null,"rationale":"The paper outlines a data access policy with role-based access and a Data Access Committee, but does not specify a fully automated, machine-readable protocol for data access (e.g., a standard like OAuth or a formal access control language)."}]},"I":{"name":"Interoperable","score":37.5,"criteria":[{"key":"i_linked_data","label":"Linked datasets / DataCite relations","kind":"deterministic","weight":1.0,"fraction":0.0,"signal":"linked_datasets=0, datacite=0","rationale":null},{"key":"i_standard_ids","label":"References data via standard accessions","kind":"deterministic","weight":1.0,"fraction":0.0,"signal":"accessions=0, trials=0","rationale":null},{"key":"i_standards","label":"Standard formats, vocabularies & identifiers","kind":"llm","weight":1.0,"fraction":0.75,"signal":null,"rationale":"The paper mentions use of standard formats (REDCap, CSV, SPSS, etc.) and ontologies (HPO, ORDO, HGVS), but does not demonstrate that all data are consistently encoded in a standard, machine-readable format (e.g., RDF) or that identifiers are globally unique and resolvable."}]},"R":{"name":"Reusable","score":50.0,"criteria":[{"key":"r_license","label":"Clear, open reuse license","kind":"deterministic","weight":1.5,"fraction":0.0,"signal":"no license","rationale":null},{"key":"r_downloads","label":"Demonstrated reuse (downloads)","kind":"deterministic","weight":0.5,"fraction":1.0,"signal":"downloads=110","rationale":null},{"key":"r_version","label":"Versioned / maintained","kind":"deterministic","weight":0.5,"fraction":0.0,"signal":"no version chain","rationale":null},{"key":"r_dataset","label":"Classified as a data resource","kind":"deterministic","weight":0.5,"fraction":1.0,"signal":"is_dataset","rationale":null},{"key":"r_reusability","label":"Data-availability statement, license & reproducibility","kind":"llm","weight":2.0,"fraction":0.667,"signal":null,"rationale":"The paper includes a data-availability statement (with restrictions), mentions a CC BY license, and describes some reproducibility features (codebook, KPIs), but does not provide a full, open license for all data/code or a clear repository for code and data with persistent identifiers."}]}},"suggestions":["Provide a machine-readable metadata description (e.g., using DCAT) and register the registry in a public, searchable index like the FAIR Data Point.","Implement a formal, machine-readable access protocol (e.g., using OAuth or a standard data-use ontology) and document it in the registry's metadata.","Encode all data elements using a standard RDF format (e.g., using the EU-CDEs semantic model) and assign persistent, resolvable identifiers (e.g., DOIs) to each dataset.","Make the full codebook and all data exports publicly available under a permissive open license (e.g., CC0) and deposit them in a public repository with a DOI.","Publish the software (REDCap configuration, FAIR Data Point code) in a public repository with a clear license and versioning to enable full reproducibility."],"model":"deepseek/deepseek-v4-flash","agent_version":"fair_agent_v2","fulltext_source":"epmc_xml"},"fair_model":"deepseek/deepseek-v4-flash","fair_agent_version":"fair_agent_v2","fair_fulltext_source":"epmc_xml","fair_has_llm":true,"fair_computed_at":"2026-06-18T00:47:45.186076Z","clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}