{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T22:46:32Z","timestamp":1790117192309,"version":"4.0.1"},"reference-count":42,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Since 2018, World Duchenne Organization, Dutch Duchenne Parent Project, and Duchenne Data Foundation have been championing efforts to make Duchenne-related data reusable in combination with data contained in other registries. Transforming human language into a coded language that machines can understand (\u201cFAIRification\u201d; FAIR, Findable, Accessible, Interoperable, Reusable) offers a solution.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>To recount and reflect on the process and challenges encountered during the FAIRification of a patient-registry, the Duchenne Data Platform.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The FAIRification plan was developed by a multidisciplinary team that was coordinated by a FAIR project manager. It focused on FAIRifying common data elements for rare disease registrations and patient-related outcome data. Protecting patient privacy and autonomy were at the forefront throughout the process. FAIR data transformation was accomplished through a combination of open-source and custom-written software. Data access for federated exploration was enabled through a privacy-preserving \u201cdata-visiting\u201d approach.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The plan consisted of 10 main steps and addressed social, legal, ethical, and technical issues. Proof-of-concept testing for interoperability between the Duchenne Data Platform and four other registries demonstrated that FAIR data discovery and reuse was possible. Misconceptions about FAIR data persist, which act as barriers to scaling-up community-level FAIR efforts. Suggestions for overcoming these barriers are provided.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Data visiting and federated analyses between registries is possible. Actions to help mitigate hesitation to implement FAIR in practice include seeking out existing FAIR training opportunities, addressing misconceptions as needed, contacting FAIR experts for advice and using the open-source resources that we have shared.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602251382969","type":"journal-article","created":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T18:10:19Z","timestamp":1759342219000},"page":"304-315","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["The FAIR journey of a patient-driven registry: Reflections and practical solutions from the Duchenne Data Platform FAIRification experience"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3707-8373","authenticated-orcid":false,"given":"Nawel","family":"Lalout","sequence":"first","affiliation":[{"name":"Duchenne Parent Project"},{"name":"ERN EURO-NMD, University Hospitals Piti\u00e9 Salp\u00eatri\u00e8re, Paris, France"},{"name":"Radboudumc Institute for Patient Care, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6960-357X","authenticated-orcid":false,"given":"Mark D.","family":"Wilkinson","sequence":"additional","affiliation":[{"name":"Alimentaria y de Biosistemas and Centro de Biotecnolog\u00eda y Gen\u00f3mica de Plantas (CBGP, UPM-INIA), Universidad Polit\u00e9cnica de Madrid (UPM) \u2013 Instituto Nacional de Investigaci\u00f3n y Tecnolog\u00eda Agraria y Alimentaria (INIA)"},{"name":"FAIR Data Systems S.L., Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8144-162X","authenticated-orcid":false,"given":"Dagmar","family":"Wandrei","sequence":"additional","affiliation":[{"name":"Medical Center \u2013 University of Freiburg, University of Freiburg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5392-4125","authenticated-orcid":false,"given":"Adrian","family":"Tassoni","sequence":"additional","affiliation":[{"name":"Medical Center \u2013 University of Freiburg, University of Freiburg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9345-0953","authenticated-orcid":false,"given":"Antonio","family":"Atalaia","sequence":"additional","affiliation":[{"name":"ERN EURO-NMD, University Hospitals Piti\u00e9 Salp\u00eatri\u00e8re, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-1837-003X","authenticated-orcid":false,"given":"Mario","family":"Prieto","sequence":"additional","affiliation":[{"name":"Alimentaria y de Biosistemas and Centro de Biotecnolog\u00eda y Gen\u00f3mica de Plantas (CBGP, UPM-INIA), Universidad Polit\u00e9cnica de Madrid (UPM) \u2013 Instituto Nacional de Investigaci\u00f3n y Tecnolog\u00eda Agraria y Alimentaria (INIA)"},{"name":"FAIR Data Systems S.L., Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5613-9704","authenticated-orcid":false,"given":"Alberto","family":"Camara","sequence":"additional","affiliation":[{"name":"Alimentaria y de Biosistemas and Centro de Biotecnolog\u00eda y Gen\u00f3mica de Plantas (CBGP, UPM-INIA), Universidad Polit\u00e9cnica de Madrid (UPM) \u2013 Instituto Nacional de Investigaci\u00f3n y Tecnolog\u00eda Agraria y Alimentaria (INIA)"},{"name":"FAIR Data Systems S.L., Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-4959-9053","authenticated-orcid":false,"given":"Eduardo","family":"Quemada","sequence":"additional","affiliation":[{"name":"FAIR Data Systems S.L., Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjam","family":"Franken","sequence":"additional","affiliation":[{"name":"Duchenne Parent Project"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5883-7610","authenticated-orcid":false,"given":"Anneliene H.","family":"Jonker","sequence":"additional","affiliation":[{"name":"Duchenne Parent Project"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9629-2367","authenticated-orcid":false,"given":"Georgios","family":"Paliouras","sequence":"additional","affiliation":[{"name":"Duchenne Data Foundation"},{"name":"National Center for Scientific Research \u201cDemokritos\u201d, Agia Paraskevi, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1531-1560","authenticated-orcid":false,"given":"Sergiu","family":"Siminiuc","sequence":"additional","affiliation":[{"name":"Duchenne Data Foundation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Carta","sequence":"additional","affiliation":[{"name":"Istituto Superiore di Sanit\u00e0"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7893-0505","authenticated-orcid":false,"given":"Bruna","family":"Dos Santos Vieira","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8691-772X","authenticated-orcid":false,"given":"Marco","family":"Roos","sequence":"additional","affiliation":[{"name":"Leiden University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajaram","family":"Kaliyaperumal","sequence":"additional","affiliation":[{"name":"Leiden University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresinha","family":"Evangelista","sequence":"additional","affiliation":[{"name":"ERN EURO-NMD, University Hospitals Piti\u00e9 Salp\u00eatri\u00e8re, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter A.C.","family":"\u2018t Hoen","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Vroom","sequence":"additional","affiliation":[{"name":"ERN EURO-NMD, University Hospitals Piti\u00e9 Salp\u00eatri\u00e8re, Paris, France"},{"name":"World Duchenne Organization, Veenendaal, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,10,1]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90579-4"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23810"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)32160-8"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.08.010"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-210721"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1123-4"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03059-3"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/sdata.2016.18"},{"key":"e_1_3_3_10_2","unstructured":"Riccardo Albertoni (Invited Expert \/ CNR \u2013 Consiglio Nazionale delle Ricerche I Refinitiv.com) DBIEPa CSIRO) SJDCIEPa et al. Data Catalog Vocabulary (DCAT) \u2013 Version 3 https:\/\/www.w3.org\/TR\/2024\/REC-vocab-dcat-3-20240822\/ (2024 accessed 22 August 2024)."},{"key":"e_1_3_3_11_2","unstructured":"W3C Semantic Web Standards. OWL https:\/\/www.w3.org\/OWL\/ (2012 accessed 18 March 2025)."},{"key":"e_1_3_3_12_2","unstructured":"W3C Semantic Web Standards Resource description framework (RDF) https:\/\/www.w3.org\/RDF\/ (2014 accessed 18 March 2025)."},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.4018\/jswis.2009081901"},{"key":"e_1_3_3_14_2","unstructured":"W3C Semantic Web Standards SPARQL query language for RDF https:\/\/www.w3.org\/TR\/rdf-sparql-query\/ (2008 accessed 18 March 2025)."},{"key":"e_1_3_3_15_2","unstructured":"European Joint Program \u2013 Rare Diseases. The journey doesn\u2019t stop here! https:\/\/www.ejprarediseases.org\/ (2024 accessed 20 February 2025)."},{"key":"e_1_3_3_16_2","unstructured":"European Commission. Set of common data elements. https:\/\/eu-rd-platform.jrc.ec.europa.eu\/set-of-common-data-elements_en (2018 accessed 18 March 2025)."},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.09.017"},{"key":"e_1_3_3_18_2","article-title":"Ordo: an ontology conencting rare disease, epidemiology and genetic data","author":"Vasant DCL","year":"2024","unstructured":"Vasant DCL, Malone J, Hanauer M. Ordo: an ontology conencting rare disease, epidemiology and genetic data. Proc Estonian Acad Sci Biol Ecol 2024.","journal-title":"Proc Estonian Acad Sci Biol Ecol"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","unstructured":"Golbeck JFG Hartel F Hendler J et al. The National Cancer Institute's thesaurus and ontology (2003). DOI: 10.2139\/ssrn.3199007.","DOI":"10.2139\/ssrn.3199007"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1162\/dint_a_00028"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2021.103897"},{"key":"e_1_3_3_22_2","unstructured":"Health-RI. Duchenne Data Platform https:\/\/www.health-ri.nl\/en\/duchenne-data-platform-ddp (2025 accessed 21 February 2025)."},{"key":"e_1_3_3_23_2","unstructured":"Radboud University Medical Center https:\/\/www.radboudumc.nl\/en\/patient-care (accessed 21 February 2025)."},{"key":"e_1_3_3_24_2","unstructured":"Leiden University Medical Center https:\/\/www.lumc.nl\/en\/ (accessed 21 February 2025)."},{"key":"e_1_3_3_25_2","unstructured":"FAIR Data Systems https:\/\/fairdata.systems\/home\/ (2025 accessed 21 February 2025)."},{"key":"e_1_3_3_26_2","first-page":"581","article-title":"Using the personal health train for automated and privacy-preserving analytics on vertically partitioned data","volume":"247","author":"van Soest J","year":"2018","unstructured":"van Soest J, Sun C, Mussmann O, et al. Using the personal health train for automated and privacy-preserving analytics on vertically partitioned data. Stud Health Technol Inform 2018; 247: 581\u2013585.","journal-title":"Stud Health Technol Inform"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.3389\/fpubh.2021.712569"},{"key":"e_1_3_3_28_2","unstructured":"RDM Kit. Machine actionability: what does machine-readable machine-actionable and machine-interpretable mean? https:\/\/rdmkit.elixir-europe.org\/machine_actionability (accessed 21 March 2025)."},{"key":"e_1_3_3_29_2","unstructured":"Elixir Europe: Distributed Infrastructure for Biological Data https:\/\/elixir-europe.org\/about-us (2025 accessed 18 March 2025)."},{"key":"e_1_3_3_30_2","unstructured":"Schultes E. FAIR data and data that are fully AI ready https:\/\/eosc.eu\/wp-content\/uploads\/2024\/10\/Schultes_Examples-of-EOSC-scientific-and-societal-impact-from-GO-FAIR.pdf (2024 accessed 18 March 2025)."},{"key":"e_1_3_3_31_2","unstructured":"FAIR Evaluation Services. Resources and guidelines to assess the FAIRness of digital resources https:\/\/w3id.org\/AmIFAIR (accessed 18 March 2025)."},{"key":"e_1_3_3_32_2","doi-asserted-by":"publisher","DOI":"10.1162\/dint_a_00160"},{"key":"e_1_3_3_33_2","volume-title":"Take CARE of the patient data. Clinical and registry entries (CARE) semantic modelSWAT4HCLS","author":"Alarc\u00f3n-Moreno P","unstructured":"Alarc\u00f3n-Moreno P, Wilkinson MD. Take CARE of the patient data. Clinical and registry entries (CARE) semantic model. In: SWAT4HCLS, Leiden, February 26\u201329, 2024, CEUR Workshop Proceedings."},{"key":"e_1_3_3_34_2","first-page":"49","article-title":"Cloudy, increasingly FAIR; revisiting the FAIR data guiding principles for the European open science cloud","volume":"37","author":"Mons B","year":"2017","unstructured":"Mons B, Neylon C, Velterop J, et al. Cloudy, increasingly FAIR; revisiting the FAIR data guiding principles for the European open science cloud. Inf Serv Use 2017; 37: 49\u201356.","journal-title":"Inf Serv Use"},{"key":"e_1_3_3_35_2","unstructured":"grlc https:\/\/grlc.io\/ (accessed 21 February 2025)."},{"key":"e_1_3_3_36_2","unstructured":"ERN EURO-NMD. Registry hub for rare neuromuscular diseases https:\/\/ern-euro-nmd.eu\/reghub\/ (accessed 18 March 2025)."},{"key":"e_1_3_3_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.09.017"},{"key":"e_1_3_3_38_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1088-3"},{"key":"e_1_3_3_39_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-0998-4"},{"key":"e_1_3_3_40_2","unstructured":"Health-RI. FAIR Data https:\/\/www.health-ri.nl\/en\/about\/organisation\/fair-data (2025 accessed 18 March 2025)."},{"key":"e_1_3_3_41_2","unstructured":"FAIRsFAIR. FAIR frameworks & training programmes. (2020 accessed 21 March 2025)."},{"key":"e_1_3_3_42_2","unstructured":"European Commission. European Open Science Cloud (EOSC) https:\/\/research-and-innovation.ec.europa.eu\/strategy\/strategy-research-and-innovation\/our-digital-future\/open-science\/european-open-science-cloud-eosc_en (2022 accessed 18 March 2025)."},{"key":"e_1_3_3_43_2","unstructured":"European Health Data Space Regulation (EHDS) https:\/\/health.ec.europa.eu\/ehealth-digital-health-and-care\/european-health-data-space-regulation-ehds_en (2025 accessed 18 March 2025)."}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602251382969","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/22143602251382969","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602251382969","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T04:57:13Z","timestamp":1780549033000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/22143602251382969"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,1]]},"references-count":42,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1177\/22143602251382969"],"URL":"https:\/\/doi.org\/10.1177\/22143602251382969","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,1]]}}}