{"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":1.1868939671474377,"base_score":3.1354942159291497,"endowment":3.1354942159291497,"self_citation_contribution":0.47032413238937254,"citation_network_contribution":0.716569834758065,"self_endowment_contribution":0.47032413238937254,"citer_contribution":0.716569834758065,"corpus_percentile":82.73381294964028,"corpus_rank":2233,"citation_count":22,"citer_count":18,"citers_with_citation_signal":12,"citers_with_endowment":12,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.7679,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":110,"has_version_chain":false,"published_date":"2024-02-14","fair_score":45.8333,"fair_percentile":59.49250993579945,"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":44.4444,"fair_a":50.0,"fair_i":80.0,"fair_r":50.0,"fair_zscore":0.4506,"fair_rationale":{"fair_score":45.83,"has_llm":true,"taxonomy_version":"fair_taxonomy_v5","dimensions":{"F":{"name":"Findable","score":44.44,"criteria":[{"key":"f_dataset_pid","label":"Persistent identifier for the data","kind":"llm","weight":2.0,"fraction":0.5,"verdict":"partial","evidence":"https://eu-rd-platform.jrc.ec.europa.eu/erdridor/register/6501","grounded":true,"rationale":"The only identifier given for the dataset is a URL (the ERDRI registration page), not a PID scheme like DOI or Handle. 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[majority verdict 'partial' (3/5 passes agreed)]","anchors":["RDA-F2-01M — 'Rich metadata is provided to allow discovery' (priority Essential)","FsF-F2-01M — F-UJI: 'Metadata includes descriptive core elements to support data findability'","FsF-R1-01MD — F-UJI: 'Metadata specifies the content of the data'"],"scored":false,"signal":null},{"key":"f_dataset_cited","label":"Dataset formally cited","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No identifier for the dataset appears in the reference list or body text; the paper's own DOI is for the article, not the data. [majority verdict 'no' (4/5 passes agreed)]","anchors":["FORCE11 Joint Declaration of Data Citation Principles (2014) — data should be cited as a first-","RDA-F3-01M — metadata clearly and explicitly includes the identifier of the data it describes","FsF-F3-01M — F-UJI: 'Metadata includes the identifier of the data it describes'"],"scored":true,"signal":null}]},"A":{"name":"Accessible","score":50.0,"criteria":[{"key":"a_data_openly_accessible","label":"Access route free of preconditions","kind":"llm","weight":2.0,"fraction":0.5,"verdict":"partial","evidence":"Data are available in aggregated and/or pseudonymised formats to all stakeholders to develop projects, policies or studies, following approval by the Data Access Committee of the EURO-NMD Registry Hub project","grounded":true,"rationale":"The access route requires approval by the Data Access Committee, which is a defined, followable precondition.","anchors":["RDA-A1.1-01D — 'Data is accessible through a free access protocol'","FsF-A1-01M — F-UJI: 'Metadata contains access level and access conditions of the data'","NSTC Desirable Characteristics of Data Repositories (2022) — 'Free and Easy Access'"],"scored":true,"signal":null},{"key":"a_access_conditions_stated","label":"Access level labelled","kind":"llm","weight":1.0,"fraction":0.5,"verdict":"partial","evidence":"Access to data in the registry itself, as well as to the REDCap Codebook listing all data elements captured, is available to authorised users under conditions governed by the registry data access policy as described in this publication and set out on the registry website at https://registry.ern-euro-nmd.eu .","grounded":true,"rationale":"The paper describes an access action (available to authorised users under conditions) but does not label the access level with a standard term like 'open access' or 'restricted access'. [majority verdict 'partial' (4/5 passes agreed)]","anchors":["FsF-A1-01M — F-UJI: 'Metadata contains access level and access conditions of the data'","RDA-A1-01M — metadata contains information to enable the user to get access to the data","COAR Controlled Vocabularies — Access Rights v1.0 (open / embargoed / restricted / metadata-onl"],"scored":false,"signal":null},{"key":"a_controlled_access_for_sensitive","label":"Gatekeeper for sensitive data","kind":"llm","weight":0.5,"fraction":1.0,"verdict":"yes","evidence":"following approval by the Data Access Committee of the EURO-NMD Registry Hub project","grounded":true,"rationale":"The paper names an institutional gatekeeper (Data Access Committee) for accessing sensitive human-subject data. [majority verdict 'yes' (4/5 passes agreed)]","anchors":["NIH Genomic Data Sharing Policy (NOT-OD-14-124) — controlled-access via a Data Access Committee","RDA-A1.2-01D — 'Data is accessible through an access protocol that supports authentication and ","NIH DMS Policy Element 5 (NOT-OD-21-014) — Access, Distribution, or Reuse Considerations (conse"],"scored":false,"signal":null},{"key":"a_timeline_retention","label":"Availability timing & retention","kind":"llm","weight":0.5,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No sentence in the paper states how long the data will remain available or makes any persistence commitment.","anchors":["NIH DMS Plan Element 4 (NOT-OD-21-014) — Data Preservation, Access, and Associated Timelines","NSTC Desirable Characteristics (2022), Organizational Infrastructure: 'Retention Policy'","RDA-A2-01M — 'Metadata is guaranteed to remain available after data is no longer available'"],"scored":false,"signal":null}]},"I":{"name":"Interoperable","score":80.0,"criteria":[{"key":"i_open_nonproprietary_format","label":"Open file format","kind":"llm","weight":1.0,"fraction":1.0,"verdict":"yes","evidence":"download predefined data exports in different formats (e.g., CSV, SPSS, SAS, R, Stata, CDISC)","grounded":true,"rationale":"CSV is an open, community-standard format named for the data. [majority verdict 'yes' (3/5 passes agreed)]","anchors":["FsF-R1.3-02D — F-UJI: 'Data is available in a file format recommended by the target research co","RDA-R1.3-02D — data is expressed in a machine-understandable community standard","RDA-I1-01D — data uses a knowledge representation expressed in a standardised format"],"scored":true,"signal":null},{"key":"i_community_standard_vocabulary","label":"Community standard / vocabulary","kind":"llm","weight":1.0,"fraction":1.0,"verdict":"yes","evidence":"The use of the Human Phenotype Ontology (HPO)","grounded":true,"rationale":"The paper names multiple community standards (HPO, ORDO, HGVS, OMIM) that are registered in FAIRsharing.","anchors":["RDA-R1.3-01M — 'Metadata complies with a community standard' (priority Essential)","RDA-R1.3-01D — 'Data complies with a community standard'","RDA-I2-01M — '(Meta)data use vocabularies that follow FAIR principles'"],"scored":false,"signal":null},{"key":"i_qualified_references","label":"Identifiers for the resources the data depend on","kind":"llm","weight":0.5,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No identifier (DOI, accession, RRID, etc.) is given for any external resource that the data depend on or derive from. 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A bare URL is not persistent: it is the single most common cause of a dead data link five years after publication. For neuroimaging data, deposit in OpenNeuro or NeuroVault.","anchors":["yes","partial","no"],"verdict":"partial","current":0.5,"evidence":"https://eu-rd-platform.jrc.ec.europa.eu/erdridor/register/6501","why":"The only identifier given for the dataset is a URL (the ERDRI registration page), not a PID scheme like DOI or Handle. [majority verdict 'partial' (3/5 passes agreed)]","gain":8.33,"priority":"essential","scored":true},{"key":"f_repository_named","dimension":"F","label":"Named repository","action":"Deposit the data in a repository registered in re3data/FAIRsharing (a domain repository such as GEO, SRA, dbGaP, PRIDE, or a generalist such as Zenodo, Dryad, Dataverse) and name it explicitly in the paper. A lab website is not an archive: it has no retention commitment and no accession. 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[majority verdict 'partial' (4/5 passes agreed)]","gain":0.0,"priority":"essential","scored":false},{"key":"f_discovery_metadata","dimension":"F","label":"Description of the dataset as an object","action":"Add a 'Data Records' section: itemise every file in the deposit and every variable or sample it holds, with counts and units. Describe the dataset as an object in its own right, not as a by-product of the findings — this is what makes it discoverable to someone who is not looking for your paper.","anchors":["yes","partial","no"],"verdict":"partial","current":0.5,"evidence":"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).","why":"The dataset is described in running prose, not in an itemised inventory (section, table, or enumerated list). [majority verdict 'partial' (3/5 passes agreed)]","gain":0.0,"priority":"essential","scored":false},{"key":"a_access_conditions_stated","dimension":"A","label":"Access level labelled","action":"State the access level in words, using the standard vocabulary: 'These data are open access' / 'These data are controlled access'. A reader — and a harvester — should not have to infer the access level from the presence of a download link.","anchors":["yes","partial","no"],"verdict":"partial","current":0.5,"evidence":"Access to data in the registry itself, as well as to the REDCap Codebook listing all data elements captured, is available to authorised users under conditions governed by the registry data access policy as described in this publication and set out on the registry website at https://registry.ern-euro-nmd.eu .","why":"The paper describes an access action (available to authorised users under conditions) but does not label the access level with a standard term like 'open access' or 'restricted access'. [majority verdict 'partial' (4/5 passes agreed)]","gain":0.0,"priority":"important","scored":false},{"key":"r_provenance_methods","dimension":"R","label":"Provenance of the data","action":"Name the instruments, kits, and software — with versions — that produced the data, not just the verbs. 'Reads were aligned' is not provenance; 'aligned with STAR v2.7.9a to GRCh38' is, because someone else can rerun it.","anchors":["yes","partial","no"],"verdict":"partial","current":0.5,"evidence":"The EURO-NMD Registry is housed within the secure hospital IT infrastructure of the University Medical Centre Freiburg in Germany.","why":"The data production is described in generic terms (housed, collected, entered) without naming specific instruments, kits, or software versions. [majority verdict 'partial' (4/5 passes agreed)]","gain":0.0,"priority":"important","scored":false},{"key":"i_qualified_references","dimension":"I","label":"Identifiers for the resources the data depend on","action":"Cite by identifier every resource the data depend on — the source datasets' accessions, the reference build (GRCh38 / GCA_000001405.28), the cohort application number, the code DOI — and register those relations on the dataset record (IsDerivedFrom, IsSupplementTo). A name is not a link: it cannot be resolved, versioned, or followed by a machine.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"No identifier (DOI, accession, RRID, etc.) is given for any external resource that the data depend on or derive from. [majority verdict 'no' (4/5 passes agreed)]","gain":0.0,"priority":"useful","scored":false},{"key":"a_timeline_retention","dimension":"A","label":"Availability timing & retention","action":"State when the data become available AND how long they will be retained — cite the repository's preservation policy. NIH DMS Element 4 asks for both; most papers give neither.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"No sentence in the paper states how long the data will remain available or makes any persistence commitment.","gain":0.0,"priority":"useful","scored":false}],"suggestions":["Mint or cite a persistent identifier for the dataset — a repository DOI or an accession from a registered repository — and print it in the paper. A bare URL is not persistent: it is the single most common cause of a dead data link five years after publication. For neuroimaging data, deposit in OpenNeuro or NeuroVault.","Deposit the data in a repository registered in re3data/FAIRsharing (a domain repository such as GEO, SRA, dbGaP, PRIDE, or a generalist such as Zenodo, Dryad, Dataverse) and name it explicitly in the paper. A lab website is not an archive: it has no retention commitment and no accession. For neuroimaging data, deposit in OpenNeuro or NeuroVault.","Remove the precondition or justify it. Release the data at publication with no embargo, no registration wall, and no approval step — NIH's zero-embargo public- access rule (NOT-OD-25-101) has already made 'available at publication' the federal baseline for the article; the data should not lag behind it. For neuroimaging data, deposit in OpenNeuro or NeuroVault.","Attach a standard, machine-readable open licence to the deposit — CC0 or CC BY, which is what Horizon Europe and most funders expect — and print the licence identifier in the paper. 'Free to use' is not a licence: it grants nothing a reuser's institution can rely on.","Cite the dataset in the reference list like a publication — creator, year, title, repository, DOI/accession — and cite it in-text where it is used. Only a reference- list entry is machine-readable to Crossref/DataCite, and only a citation lets the data earn credit. Cite the neuroimaging repository accession (e.g. from OpenNeuro or NeuroVault) in the reference list."],"model":"deepseek/deepseek-v4-flash","agent_version":"fair_agent_v8","fulltext_source":"epmc_xml"},"fair_model":"deepseek/deepseek-v4-flash","fair_agent_version":"fair_agent_v8","fair_fulltext_source":"epmc_xml","fair_has_llm":true,"fair_computed_at":"2026-07-20T11:50:02.838819Z","clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}