{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:06:10Z","timestamp":1792785970726,"version":"4.5.0"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2021,11,6]],"date-time":"2021-11-06T00:00:00Z","timestamp":1636156800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"French Ministry of Health"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,1,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>BaMaRa allows the secure collection and deidentified centralization of medical data from all patients followed-up in a rare disease expert network in France, based on a minimum data set (SDM-MR). The present article describes BaMaRa information system implementation and development across the whole national territory as well as data access requests through BNDMR, the data warehouse which centralizes all BaMaRa data, during the 2015\u20132020 period.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>SDM-MR is made up of 60 interoperable items and is routinely collected through BaMaRa in rare disease centers as part of care and discharged into BNDMR after deidentification and data reconciliation. Data access is regulated by a scientific committee.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In total, 668\u200a002 affected patients had an SDM-MR recorded in BNDMR by the end of 2020 with a mean value of 3.4 activities per patients. Data access was provided for 66 projects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The BaMaRa-BNDMR infrastructure provides an administrative and epidemiological resources for rare diseases in France.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/jamia\/ocab237","type":"journal-article","created":{"date-parts":[[2021,10,20]],"date-time":"2021-10-20T18:48:37Z","timestamp":1634755717000},"page":"553-558","source":"Crossref","is-referenced-by-count":31,"title":["The ongoing French BaMaRa-BNDMR cohort: implementation and deployment of a nationwide information system on rare disease"],"prefix":"10.1093","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8001-8539","authenticated-orcid":false,"given":"Anne-Sophie","family":"Jannot","sequence":"first","affiliation":[{"name":"Banque Nationale de Donn\u00e9es Maladies Rares, DSI-I&D, APHP, Paris, France"},{"name":"Universit\u00e9 de Paris, Paris, France"},{"name":"HeKA team, Centre de Recherche des Cordeliers, Sorbonne Universit\u00e9, Inserm, Universit\u00e9 de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Messiaen","sequence":"additional","affiliation":[{"name":"Banque Nationale de Donn\u00e9es Maladies Rares, DSI-I&D, APHP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahlem","family":"Khatim","sequence":"additional","affiliation":[{"name":"Banque Nationale de Donn\u00e9es Maladies Rares, DSI-I&D, APHP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thibaut","family":"Pichon","sequence":"additional","affiliation":[{"name":"Banque Nationale de Donn\u00e9es Maladies Rares, DSI-I&D, APHP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Sandrin","sequence":"additional","affiliation":[{"name":"Banque Nationale de Donn\u00e9es Maladies Rares, DSI-I&D, APHP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the BNDMR infrastructure team","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,11,6]]},"reference":[{"key":"2022012920321818000_ocab237-B1","doi-asserted-by":"crossref","first-page":"S149","DOI":"10.1016\/j.respe.2017.05.004","article-title":"Value of a national administrative database to guide public decisions: from the syst\u00e8me national d\u2019information interr\u00e9gimes de l\u2019Assurance Maladie (SNIIRAM) to the syst\u00e8me national des donn\u00e9es de sant\u00e9 (SNDS) in France","volume":"65 (Suppl 4","author":"Tuppin","year":"2017","journal-title":"Rev Epidemiol Sante Publique"},{"issue":"1","key":"2022012920321818000_ocab237-B2","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1186\/s13023-015-0251-8","article-title":"Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding","volume":"10","author":"Aym\u00e9","year":"2015","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"2022012920321818000_ocab237-B3","first-page":"5","article-title":"[Inaugural conference\u2014what stakes face rare diseases in the French health care system]","volume":"30 Spe","author":"P\u00e9ton-Klein","year":"2014","journal-title":"Med Sci"},{"key":"2022012920321818000_ocab237-B4","first-page":"51","article-title":"CEMARA: a Web dynamic application within a N-tier architecture for rare diseases","volume":"136","author":"Messiaen","year":"2008","journal-title":"Stud Health Technol Inform"},{"issue":"Pt 1","key":"2022012920321818000_ocab237-B5","first-page":"481","article-title":"CEMARA an information system for rare diseases","volume":"160","author":"Landais","year":"2010","journal-title":"Stud Health Technol Inform"},{"issue":"1","key":"2022012920321818000_ocab237-B6","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1136\/amiajnl-2014-002794","article-title":"A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research","volume":"22","author":"Choquet","year":"2015","journal-title":"J Am Med Inform Assoc"},{"issue":"5","key":"2022012920321818000_ocab237-B7","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1002\/humu.22078","article-title":"Representation of rare diseases in health information systems: the orphanet approach to serve a wide range of end users","volume":"33","author":"Rath","year":"2012","journal-title":"Hum Mutat"},{"issue":"6","key":"2022012920321818000_ocab237-B8","doi-asserted-by":"crossref","first-page":"e330","DOI":"10.1111\/codi.12186","article-title":"The impact of anorectal malformations on anorectal function and social integration in adulthood: report from a national database","volume":"15","author":"Mantoo","year":"2013","journal-title":"Colorectal Dis"},{"issue":"8","key":"2022012920321818000_ocab237-B9","doi-asserted-by":"crossref","first-page":"1644","DOI":"10.3390\/ijerph15081644","article-title":"Recommendations for improving the quality of rare disease registries","volume":"15","author":"Kodra","year":"2018","journal-title":"Int J Environ Res Public Health"},{"key":"2022012920321818000_ocab237-B10","first-page":"755","article-title":"Patient information, consents and privacy protection scheme for an information system dedicated to pervasive developmental disorders","volume":"205","author":"Ben Said","year":"2014","journal-title":"Stud Health Technol Inform"},{"issue":"1","key":"2022012920321818000_ocab237-B11","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1186\/s13023-018-0948-6","article-title":"Federating patients identities: the case of rare diseases","volume":"13","author":"Maaroufi","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"2022012920321818000_ocab237-B12","doi-asserted-by":"crossref","first-page":"e10080","DOI":"10.1002\/lrh2.10080","article-title":"National platform for Rare Diseases Data Registry of Japan","volume":"3","author":"Furusawa","year":"2019","journal-title":"Learn Health Syst"},{"issue":"2","key":"2022012920321818000_ocab237-B13","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.cct.2011.11.016","article-title":"If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)","volume":"33","author":"Hilbert","year":"2012","journal-title":"Contemp Clin Trials"},{"issue":"1","key":"2022012920321818000_ocab237-B14","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1186\/s13023-021-01831-3","article-title":"How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system","volume":"16","author":"Berger","year":"2021","journal-title":"Orphanet J Rare Dis"},{"issue":"8","key":"2022012920321818000_ocab237-B15","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1002\/pds.4233","article-title":"The national healthcare system claims databases in France, SNIIRAM and EGB: powerful tools for pharmacoepidemiology","volume":"26","author":"Bezin","year":"2017","journal-title":"Pharmacoepidemiol Drug Saf"},{"issue":"11","key":"2022012920321818000_ocab237-B16","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1093\/jamia\/ocz174","article-title":"New approaches to cohort selection","volume":"26","author":"Stubbs","year":"2019","journal-title":"J Am Med Inform Assoc"},{"key":"2022012920321818000_ocab237-B17","first-page":"28","article-title":"Finding commonalities in rare diseases through the undiagnosed diseases network","author":"Yates","year":"2021","journal-title":"J Am Med Inform Assoc"},{"key":"2022012920321818000_ocab237-B18","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.ahj.2020.04.008","article-title":"Population-level surveillance of congenital heart defects among adolescents and adults in Colorado: implications of record linkage","volume":"226","author":"Crume","year":"2020","journal-title":"Am Heart J"},{"issue":"8","key":"2022012920321818000_ocab237-B19","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1093\/jamia\/ocaa125","article-title":"Characterizing outpatient problem list completeness and duplications in the electronic health record","volume":"27","author":"Wang","year":"2020","journal-title":"J Am Med Inform Assoc"}],"container-title":["Journal of the American Medical Informatics Association"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jamia\/article-pdf\/29\/3\/553\/42333180\/ocab237.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jamia\/article-pdf\/29\/3\/553\/42333180\/ocab237.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,11]],"date-time":"2023-11-11T07:44:24Z","timestamp":1699688664000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jamia\/article\/29\/3\/553\/6422478"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,6]]},"references-count":19,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2021,11,6]]},"published-print":{"date-parts":[[2022,1,29]]}},"URL":"https:\/\/doi.org\/10.1093\/jamia\/ocab237","relation":{},"ISSN":["1067-5027","1527-974X"],"issn-type":[{"value":"1067-5027","type":"print"},{"value":"1527-974X","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,3,1]]},"published":{"date-parts":[[2021,11,6]]}}}