{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T15:33:04Z","timestamp":1766503984124,"version":"3.48.0"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"Supplement_5","license":[{"start":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T00:00:00Z","timestamp":1766448000000},"content-version":"vor","delay-in-days":22,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>X-linked hypophosphatemia (XLH) is an X-linked dominant condition where fibroblast growth factor-23 (FGF23) excess leads to hypophosphatemic rickets, lower limb bowing, and musculoskeletal pain. Burosumab, a monoclonal antibody against FGF23, has been shown to ameliorate the clinical phenotype of XLH and has recently been approved for use in many countries. This study aimed to evaluate patient and parental\/caregiver perception of burosumab therapy and the acceptability of current management practices in Australia. Children with XLH and parents\/carers were invited to respond to a survey on clinical and management information including use of telehealth, access to multidisciplinary team members, and perceptions and experience regarding burosumab therapy. This was a multi-centre, cross-sectional survey-based study involving 4 tertiary Australian children\u2019s hospitals. A total of 21 survey responses from parents\/carers were received between December 2022 and October 2023. Mean (SD) age at time of survey was 12.7 (4.1) yr and median time on burosumab was 42\u00a0mo (range 2-100). Reported side effects of burosumab were limited to local skin reactions (38%, n\u00a0=\u20098) and injection site pain (5%, n\u2009=\u20091), with the majority (62%, n\u2009=\u200913) reporting no side effects. Logistical issues (availability from the pharmacy or medical centre holiday closure) led to most instances of missed or delayed doses, which were reported by 24% (n\u2009=\u20095). Most participants reported seeing their specialist both face-to-face and via telehealth (64%, n\u00a0=\u200914). The majority saw an endocrinologist (100%, n\u2009=\u200921) and orthopaedic surgeon (67%, n\u2009=\u200914), but only a small minority saw a psychologist (10%, n\u2009=\u20092). Answers to Likert scale questions revealed that most parents\/carers and children reported a perceived improvement in physical and psychological symptoms and function with burosumab therapy. This study supports the use of recently published local guidelines to manage children with XLH on burosumab due to high satisfaction expressed by children and parents\/carers. However, logistical issues leading to delayed or missed doses should be addressed.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziaf033","type":"journal-article","created":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T23:17:58Z","timestamp":1740525478000},"page":"v30-v38","source":"Crossref","is-referenced-by-count":1,"title":["Patient and carer perceptions and acceptability of current management practices in paediatric X-linked hypophosphatemia treated with burosumab therapy"],"prefix":"10.1093","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2406-8419","authenticated-orcid":false,"given":"Jessica L","family":"Sandy","sequence":"first","affiliation":[{"name":"Institute of Endocrinology and Diabetes, The Children\u2019s Hospital at Westmead , Westmead, NSW 2145 ,","place":["Australia"]},{"name":"Faculty of Medicine and Health, University of Sydney , Camperdown, NSW 2006 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine P","family":"Rodda","sequence":"additional","affiliation":[{"name":"Centre for Hormone Research, Murdoch Children\u2019s Research Institute , Melbourne, VIC 3002 ,","place":["Australia"]},{"name":"Department of Paediatrics, University of Melbourne , Melbourne, VIC 3010 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aris","family":"Siafarikas","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Perth Children\u2019s Hospital , Nedlands, WA 6009 ,","place":["Australia"]},{"name":"Institute for Health Research, Notre Dame University , Fremantle, WA 6160 ,","place":["Australia"]},{"name":"Medical School, Paediatrics, University of Western Australia , Perth, WA 6009 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Biggin","sequence":"additional","affiliation":[{"name":"Institute of Endocrinology and Diabetes, The Children\u2019s Hospital at Westmead , Westmead, NSW 2145 ,","place":["Australia"]},{"name":"Faculty of Medicine and Health, University of Sydney , Camperdown, NSW 2006 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christie-Lee","family":"Wall","sequence":"additional","affiliation":[{"name":"Institute of Endocrinology and Diabetes, The Children\u2019s Hospital at Westmead , Westmead, NSW 2145 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4957-1483","authenticated-orcid":false,"given":"Lucy","family":"Collins","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Royal Children\u2019s Hospital , Melbourne, VIC 3052 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron","family":"Schindeler","sequence":"additional","affiliation":[{"name":"Bioengineering and Molecular Medicine Laboratory, The Children\u2019s Hospital at Westmead and the Westmead Institute for Medical Research , Westmead, NSW 2145 ,","place":["Australia"]},{"name":"School of Chemical and Biomolecular Engineering, The University of Sydney , Camperdown, NSW 2006 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter J","family":"Simm","sequence":"additional","affiliation":[{"name":"Centre for Hormone Research, Murdoch Children\u2019s Research Institute , Melbourne, VIC 3002 ,","place":["Australia"]},{"name":"Department of Paediatrics, University of Melbourne , Melbourne, VIC 3010 ,","place":["Australia"]},{"name":"Department of Endocrinology and Diabetes, Royal Children\u2019s Hospital , Melbourne, VIC 3052 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Craig F","family":"Munns","sequence":"additional","affiliation":[{"name":"Child Health Research Centre, Faculty of Medicine, The University of Queensland , Brisbane, QLD 4072 ,","place":["Australia"]},{"name":"Department of Endocrinology and Diabetes, Queensland Children\u2019s Hospital , Brisbane, QLD 4101 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,12,6]]},"reference":[{"key":"2025122308354316800_ref1","volume-title":"GeneReviews(\u00ae)","author":"Laurent","year":"1993"},{"key":"2025122308354316800_ref2","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"},{"key":"2025122308354316800_ref3","doi-asserted-by":"publisher","first-page":"116791","DOI":"10.1016\/j.bone.2023.116791","article-title":"Prevalence and characteristics of paediatric X-linked hypophosphataemia in Australia and New Zealand: results from the Australian and the New Zealand paediatric surveillance units survey","volume":"173","author":"Sandy","year":"2023","journal-title":"Bone"},{"key":"2025122308354316800_ref4","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1007\/s00198-020-05548-0","article-title":"Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review","volume":"32","author":"Seefried","year":"2021","journal-title":"Osteoporos Int"},{"key":"2025122308354316800_ref5","doi-asserted-by":"publisher","first-page":"bvab070","DOI":"10.1210\/jendso\/bvab070","article-title":"Patient-reported complications, symptoms, and experiences of living with X-linked hypophosphatemia across the life-course","volume":"5","author":"Cheung","year":"2021","journal-title":"J Endocr Soc"},{"key":"2025122308354316800_ref6","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/s13023-023-02620-w","article-title":"Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the 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