{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T10:28:38Z","timestamp":1787221718054,"version":"build-2736575974"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T00:00:00Z","timestamp":1774396800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"International XLH Registry"}],"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>X-linked hypophosphatemia (XLH) is a rare genetic condition in which excess fibroblast growth factor 23 causes renal phosphate wasting, leading to skeletal morbidities. Patients experience musculoskeletal pain, stiffness, and fatigue, with impaired physical function and health-related quality of life (HRQL). Burosumab has been available in France for the treatment of XLH since 2021; European treatment guidelines suggest use in adults with pseudofractures or with insufficient response and\/or intolerance to oral phosphate supplements and active vitamin D. The International XLH Registry is collecting long-term observational data in a real-world setting from patients with XLH. Here, we report data from French adults from their first completion of the Short-Form 36 (SF-36) version 2 health survey, a measure of health-related quality of life. The analysis used data from 123 adults who completed the survey at least once (73% women; mean age at completion 42.5\u00a0yr [SD 13.4]; mean age at diagnosis 8.8 [12.6]\u00a0yr). Group mean T-scores in the current International XLH Registry sample were &amp;lt;47 on all SF-36 scale and summary scores, indicating impaired functioning. Physical and mental component summary scores were similar (43.0 [SD 9.1] vs 43.4 [11.3]). Worse physical component summary scores were significantly related to older age (p\u2009=\u2009.032), not working (excluding students) (p\u2009&amp;lt;\u2009.001), history of fracture (p\u2009&amp;lt;\u2009.001), lower-extremity fracture (p\u2009=\u2009.010), surgery as an adult (p\u2009&amp;lt;\u2009.001), current burosumab treatment (p\u2009=\u2009.006), and previous burosumab treatment (p\u2009=\u2009.002), possibly because treatment guidelines direct use to patients with more severe disease. Lower mental component summary scores were related to younger age (p\u2009=\u2009.010). Physical summary scores were better in the current analysis than in adults with other chronic musculoskeletal conditions, mental summary scores were worse. Further exploration of the relationships between modifiable influences on HRQL is warranted, including the impact of earlier intervention with burosumab on physical symptoms, notably fractures, and HRQL.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziag050","type":"journal-article","created":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T12:47:43Z","timestamp":1774442863000},"source":"Crossref","is-referenced-by-count":0,"title":["Health-related quality of life in French adults with X-linked hypophosphatemia: real-world data from the International XLH Registry"],"prefix":"10.1093","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6238-2601","authenticated-orcid":false,"given":"Karine","family":"Briot","sequence":"first","affiliation":[{"name":"Rheumatology Department, Cochin Hospital, Universit\u00e9 Paris Cit\u00e9 and Universit\u00e9 Sorbonne Paris Nord, Inserm, INRAE, Center for Research in epidemiology and Statistics (CRESS) , F-75004 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3460-2507","authenticated-orcid":false,"given":"Sandrine","family":"Lemoine","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies Rares du Calcium et du Phosphore, Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales Rares, Fili\u00e8res OSCAR et ORKID, Bron 69003; Fili\u00e8res Europ\u00e9ennes Bond et ERKNet, Nephrology and Renal Physiology Department, 69003 Lyon, France; Facult\u00e9 de M\u00e9decine Lyon Est, H\u00f4pital Edouard Herriot , 69003 Lyon ,","place":["France"]},{"name":"Facult\u00e9 de M\u00e9decine Lyon Est, Universit\u00e9 Claude Bernard Lyon 1 , 69100 Villeurbanne,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Cortet","sequence":"additional","affiliation":[{"name":"Rheumatology Department and ULR 4490 (MabLab), University-Hospital of Lille , 5900 Lille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulina","family":"Szafors","sequence":"additional","affiliation":[{"name":"Rheumatology Department, Hopital Lapeyronie , 34090 Montpellier ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Mehsen","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Groupe Hospitalier Pellegrin , 33000 Bordeaux ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Couture","sequence":"additional","affiliation":[{"name":"Rheumatology Department, Centre Hospitalier Universitaire de Toulouse , 31300 Toulouse ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerry","family":"Sandilands","sequence":"additional","affiliation":[{"name":"Health Economics Outcomes Research, Kyowa Kirin International , Marlow SL7 1HZ ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela J","family":"Rylands","sequence":"additional","affiliation":[{"name":"Health Economics Outcomes Research, Kyowa Kirin International , Marlow SL7 1HZ ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruka","family":"Ishii","sequence":"additional","affiliation":[{"name":"Health Economics Outcomes Research, Kyowa Kirin Co., Ltd. , 100-0004 Tokyo ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3454-9491","authenticated-orcid":false,"given":"Annabel","family":"Bowden","sequence":"additional","affiliation":[{"name":"Patient Centred Outcomes, Spire Outcomes Limited , London N1 7GU ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer E","family":"Dent","sequence":"additional","affiliation":[{"name":"Analytics, Spire Outcomes Limited , London N1 7GU ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1994-4226","authenticated-orcid":false,"given":"Peter","family":"Kamenicky","sequence":"additional","affiliation":[{"name":"Adult Enocrinology Service, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate, Fili\u00e8re OSCAR, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), H\u00f4pital de Bic\u00eatre, Service d'Endocrinologie et des Maladies de la Reproduction , 94270 Le Kremlin-Bic\u00eatre ,","place":["France"]},{"name":"Physiologie et Physiopathologie Endocriniennes, Universit\u00e9 Paris-Saclay, Inserm , 91190 Gif-sur-Yvette ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,3,25]]},"reference":[{"issue":"1","key":"2026082006214842700_ref1","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1186\/s13023-019-1014-8","article-title":"FGF23 and its role in X-linked hypophosphatemia-related morbidity","volume":"14","author":"Beck-Nielsen","year":"2019","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"2026082006214842700_ref2","doi-asserted-by":"publisher","first-page":"R13","DOI":"10.1530\/EC-13-0103","article-title":"Therapeutic management of hypophosphatemic rickets from infancy to adulthood","volume":"3","author":"Linglart","year":"2014","journal-title":"Endocr Connect"},{"issue":"8","key":"2026082006214842700_ref3","doi-asserted-by":"publisher","first-page":"1381","DOI":"10.1002\/jbmr.3544","article-title":"Burosumab: at long last, an effective treatment for FGF23-associated 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