{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T15:32:49Z","timestamp":1779291169909,"version":"3.51.4"},"reference-count":22,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T00:00:00Z","timestamp":1775088000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Rare bone disease referral centers (RBDCs) were established to improve the diagnosis and management of rare diseases. The objective of this retrospective observational study was to characterize real-life care pathways of patients with osteogenesis imperfecta (OI) in the Paris region. Patient data were extracted from the Assistance Publique-H\u00f4pitaux de Paris (AP-HP) health data warehouse (Entrep\u00f4t de Donn\u00e9es de Sant\u00e9). Patients were identified using the ICD-10 code for OI (Q78.0) and keyword searches. Inclusion criteria were age \u226515\u00a0yr and at least one hospital visit between January 1, 2016 and March 1, 2021. After exclusion of unconfirmed diagnoses and patients younger than 15\u00a0yr, 472 patients with OI were included (mean age 39.5\u2009\u00b1\u200916.2\u00a0yr; 64.6% women). Of these patients, 78% (N\u2009=\u2009368) were cared for in one of Paris RBDC, the majority in a single center (76% (N\u2009=\u2009280)), while 104 patients (22%) were not seen within RBDCs in AP-HP data. The most frequent specialties involved were rheumatology (74.9%, N\u2009=\u2009326), orthopedics (17.6%, N\u2009=\u200976), and otorhinolaryngology (12.9%, N\u2009=\u200956). The proportion of patients seen in rheumatology increased after the transition age of 25\u00a0yr (81.8% before vs 90% after, p\u2009=\u2009.04), whereas consultations in orthopedics and genetics decreased (29.5% vs 17.8%, p\u2009=\u2009.02, and 22.7% vs 6.8%, p\u2009&amp;lt;\u2009.0001, respectively). Orthopedic surgery during follow-up was performed in 6.2% of patients followed in RBDCs and 8.6% of those not seen within RBDCs. Although 78% (N\u2009=\u2009368) of patients with OI in the Paris region were followed within RBDCs, nearly one quarter were not (22%), suggesting persistent gaps in access to specialized care. These findings provide a real-life description of hospital-based care pathways for OI but do not allow assessment of the effectiveness of the referral center model.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziag030","type":"journal-article","created":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T11:42:04Z","timestamp":1775821324000},"source":"Crossref","is-referenced-by-count":0,"title":["Rare disease care pathways profile in France: leveraging hospital big data to characterize natural history in osteogenesis imperfecta"],"prefix":"10.1093","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7618-9503","authenticated-orcid":false,"given":"Julia","family":"Herrou","sequence":"first","affiliation":[{"name":"Department of Rheumatology, APHP Centre, Cochin Hospital , 75014 Paris ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathanael","family":"Beeker","sequence":"additional","affiliation":[{"name":"Clinical Research Unit, University of Paris Cit\u00e9 , 75014 Paris ,","place":["France"]},{"name":"MOODS Team, INSERM 1018, Centre de Recherche en Epid\u00e9miologie et Sant\u00e9 des Populations (CESP) , 94270 Le Kremlin-Bic\u00eatre ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2839-9856","authenticated-orcid":false,"given":"Valerie","family":"Cormier Daire","sequence":"additional","affiliation":[{"name":"Paris Cit\u00e9 University, Reference Center for Skeletal Dysplasia, INSERM UMR1163, Imagine Institute, Necker Hospital , 75015 Paris ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8582-8258","authenticated-orcid":false,"given":"Martine","family":"Cohen Solal","sequence":"additional","affiliation":[{"name":"INSERM U1132, Bioscar, University Paris Cit\u00e9, Lariboisiere Hospital , F-75010 Paris ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Roux","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, APHP Centre, Cochin Hospital , 75014 Paris ,","place":["France"]},{"name":"INSERM U1153, ECAMO, University of Paris Cit\u00e9 , 75014 Paris ,","place":["France"]},{"name":"Centre de R\u00e9f\u00e9rence Maladies osseuses Constitutionnelles, APHP Centre , 75014 Paris ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9417-3970","authenticated-orcid":false,"given":"Martin","family":"Biosse-Duplan","sequence":"additional","affiliation":[{"name":"INSERM U1333, Reference Center for Rare Bone Diseases of the Calcium and Phosphate Metabolism, Bretonneau Hospital, Universit\u00e9 Paris Cit\u00e9 , 75018 Paris ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Sailhan","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, Cochin Hospital , 75014 Paris ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Anract","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, Cochin Hospital , 75014 Paris ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hina","family":"Simonnet","sequence":"additional","affiliation":[{"name":"Physical Medicine and Rehabilitation Department for Children, Trousseau Hospital , 75012 Paris ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genevieve","family":"Baujat","sequence":"additional","affiliation":[{"name":"MOODS Team, INSERM 1018, Centre de Recherche en Epid\u00e9miologie et Sant\u00e9 des Populations (CESP) , 94270 Le Kremlin-Bic\u00eatre ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6238-2601","authenticated-orcid":false,"given":"Karine","family":"Briot","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, APHP Centre, Cochin Hospital , 75014 Paris ,","place":["France"]},{"name":"INSERM U1153, ECAMO, University of Paris Cit\u00e9 , 75014 Paris ,","place":["France"]},{"name":"Centre de R\u00e9f\u00e9rence Maladies osseuses Constitutionnelles, APHP Centre , 75014 Paris ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eug\u00e9nie","family":"Koumakis","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, APHP Centre, Cochin Hospital , 75014 Paris ,","place":["France"]},{"name":"Centre de R\u00e9f\u00e9rence Maladies osseuses Constitutionnelles, APHP Centre , 75014 Paris ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,4,14]]},"reference":[{"issue":"5","key":"2026052010550394900_ref1","doi-asserted-by":"publisher","first-page":"1164","DOI":"10.1002\/ajmg.a.63132","article-title":"Nosology of genetic skeletal disorders: 2023 revision","volume":"191","author":"Unger","year":"2023","journal-title":"Am J Med Genet A"},{"issue":"8","key":"2026052010550394900_ref2","doi-asserted-by":"publisher","first-page":"e10174","DOI":"10.1002\/jbm4.10174","article-title":"Osteogenesis imperfecta: new perspectives from clinical and translational research","volume":"3","author":"Tauer","year":"2019","journal-title":"JBMR Plus"},{"key":"2026052010550394900_ref3","doi-asserted-by":"publisher","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","article-title":"Osteogenesis imperfecta","volume":"3","author":"Marini","year":"2017","journal-title":"Nat Rev Dis Primers"},{"issue":"2","key":"2026052010550394900_ref4","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1111\/joor.13114","article-title":"Oral health-related quality of life in X-linked hypophosphataemia and osteogenesis imperfecta","volume":"48","author":"Gj\u00f8rup","year":"2021","journal-title":"J Oral Rehabil"},{"issue":"1","key":"2026052010550394900_ref5","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1186\/s13023-023-02728-z","article-title":"Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis","volume":"18","author":"Wehrli","year":"2023","journal-title":"Orphanet J Rare Dis"},{"issue":"5-6","key":"2026052010550394900_ref6","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1007\/s10354-019-00732-2","article-title":"Multidisciplinary patient care in X-linked hypophosphatemic rickets: one challenge, many perspectives","volume":"170","author":"Raimann","year":"2020","journal-title":"Wien Med Wochenschr"},{"issue":"8","key":"2026052010550394900_ref7","doi-asserted-by":"publisher","first-page":"1301","DOI":"10.1007\/s00198-023-06791-x","article-title":"Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit","volume":"34","author":"Chandran","year":"2023","journal-title":"Osteoporos Int"},{"key":"2026052010550394900_ref8","doi-asserted-by":"publisher","first-page":"116222","DOI":"10.1016\/j.bone.2021.116222","article-title":"Osteoarthritis in osteogenesis imperfecta: a nationwide register-based cohort study","volume":"154","author":"Andersen","year":"2022","journal-title":"Bone"},{"issue":"4","key":"2026052010550394900_ref9","doi-asserted-by":"publisher","first-page":"R95","DOI":"10.1530\/EJE-20-0299","article-title":"Osteogenesis imperfecta: an update on clinical features and therapies","volume":"183","author":"Marom","year":"2020","journal-title":"Eur J Endocrinol"},{"issue":"5","key":"2026052010550394900_ref10","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1016\/j.jbspin.2019.02.001","article-title":"The management of osteogenesis imperfecta in adults: state of the art","volume":"86","author":"Lafage-Proust","year":"2019","journal-title":"Joint Bone Spine"},{"issue":"4","key":"2026052010550394900_ref11","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1002\/ajmg.a.61464","article-title":"Hearing loss in individuals with osteogenesis imperfecta in North America: results from a multicenter study","volume":"182","author":"Machol","year":"2020","journal-title":"Am J Med Genet A"},{"issue":"12","key":"2026052010550394900_ref12","doi-asserted-by":"publisher","first-page":"2781","DOI":"10.1007\/s00198-018-4663-x","article-title":"Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults","volume":"29","author":"Hald","year":"2018","journal-title":"Osteoporos Int"},{"issue":"5","key":"2026052010550394900_ref13","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1007\/s00223-024-01293-2","article-title":"Dental abnormalities in osteogenesis imperfecta: a systematic review","volume":"115","author":"Ventura","year":"2024","journal-title":"Calcif Tissue Int"},{"issue":"5","key":"2026052010550394900_ref14","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1016\/j.anorl.2019.05.004","article-title":"Hearing impairment and osteogenesis imperfecta: literature review","volume":"136","author":"Carr\u00e9","year":"2019","journal-title":"Eur Ann Otorhinolaryngol Head Neck Dis"},{"issue":"2","key":"2026052010550394900_ref15","first-page":"115","article-title":"Dental findings in osteogenesis imperfecta: I. Occurrence and expression of type I dentinogenesis imperfecta","volume":"7","author":"Lukinmaa","year":"1987","journal-title":"J Craniofac Genet Dev Biol"},{"issue":"5","key":"2026052010550394900_ref16","doi-asserted-by":"publisher","first-page":"298","DOI":"10.5435\/JAAOS-D-15-00275","article-title":"Orthopaedic considerations for the adult with osteogenesis imperfecta","volume":"24","author":"Roberts","year":"2016","journal-title":"J Am Acad Orthop Surg"},{"issue":"1","key":"2026052010550394900_ref17","doi-asserted-by":"publisher","first-page":"e17","DOI":"10.3928\/01477447-20161006-04","article-title":"Challenges of fracture management for adults with osteogenesis imperfecta","volume":"40","author":"Gil","year":"2017","journal-title":"Orthopedics"},{"issue":"4","key":"2026052010550394900_ref18","doi-asserted-by":"publisher","first-page":"e239884","DOI":"10.1136\/bcr-2020-239884","article-title":"Functional outcomes of an adult with osteogenesis imperfecta after rehabilitation post bilateral Girdlestone procedure","volume":"14","author":"Supnet","year":"2021","journal-title":"BMJ Case Rep"},{"key":"2026052010550394900_ref19","doi-asserted-by":"publisher","first-page":"201","DOI":"10.11604\/pamj.2022.43.201.34702","article-title":"Effect of physiotherapy rehabilitation on osteogenesis imperfecta with a midshaft tibial fracture in the 11-year-old patient: a case report","volume":"43","author":"Nangliya","year":"2022","journal-title":"Pan Afr Med J"},{"issue":"1","key":"2026052010550394900_ref20","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1186\/s12891-022-05433-3","article-title":"The prevalence of musculoskeletal pain and therapy needs in adults with osteogenesis imperfecta (OI) a cross-sectional analysis","volume":"23","author":"Barlow","year":"2022","journal-title":"BMC Musculoskelet Disord"},{"issue":"1","key":"2026052010550394900_ref21","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1186\/s13023-018-0905-4","article-title":"Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta","volume":"13","author":"Mueller","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"2026052010550394900_ref22","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1002\/jbmr.2920","article-title":"Fracture rates and fracture sites in patients with osteogenesis imperfecta: a nationwide register-based cohort study","volume":"32","author":"Folkestad","year":"2017","journal-title":"J Bone Miner Res"}],"container-title":["JBMR Plus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jbmrplus\/advance-article-pdf\/doi\/10.1093\/jbmrpl\/ziag030\/68079258\/ziag030.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmrplus\/article-pdf\/10\/5\/ziag030\/68079258\/ziag030.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmrplus\/article-pdf\/10\/5\/ziag030\/68079258\/ziag030.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T14:55:06Z","timestamp":1779288906000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmrplus\/article\/doi\/10.1093\/jbmrpl\/ziag030\/8653866"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,2]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,4,2]]}},"URL":"https:\/\/doi.org\/10.1093\/jbmrpl\/ziag030","relation":{},"ISSN":["2473-4039"],"issn-type":[{"value":"2473-4039","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,5]]},"published":{"date-parts":[[2026,4,2]]},"article-number":"ziag030"}}