{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T05:13:03Z","timestamp":1777093983510,"version":"3.51.4"},"reference-count":37,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100013220","name":"Ultragenyx","doi-asserted-by":"publisher","award":["UX023-IST033"],"award-info":[{"award-number":["UX023-IST033"]}],"id":[{"id":"10.13039\/100013220","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R01 DK113984"],"award-info":[{"award-number":["R01 DK113984"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advanced Translational Science","doi-asserted-by":"publisher","award":["UL1 TR001863"],"award-info":[{"award-number":["UL1 TR001863"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>In clinical trials, burosumab ameliorates symptoms of pain, fatigue, and stiffness and improves performance on certain muscle function studies in patients with X-linked hypophosphatemia (XLH).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>This work aimed to determine if burosumab increases adenosine triphosphate (ATP) synthesis in skeletal muscle of treatment-naive adults with XLH, and if so, whether that correlates with improved muscle function.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Ten untreated, symptomatic adults with XLH had ATP synthesis rates measured in the right calf using the 31P magnetic resonance spectroscopy saturation transfer technique. Baseline muscle function tests and symptoms of pain, fatigue, stiffness, and lower-extremity joint pain were quantified. All participants were treated with burosumab, 1\u2005mg\/kg every 4 weeks for 12 weeks. ATP synthesis rates and muscle function tests were repeated 2 weeks (\u201cpeak\u201d) and 4 weeks (\u201ctrough\u201d) after the third dose of burosumab.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>All symptoms improved with treatment. Performance on the 6-Minute Walk Test (6MWT) and Sit to Stand (STS) tests also improved. Muscle strength and ATP synthesis rates did not change over the 3 months of the study. When individuals whose performances on the 6MWT and STS test were at or better than the median outcome for those tests were compared to those whose outcomes were below the median, no difference was observed in the rate of change in ATP synthesis. Intracellular muscle concentrations of phosphate were normal.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The improvement in the 6MWT and STS test without changes in muscle strength or ATP synthesis rates suggests that reductions in pain, fatigue, and stiffness may partly explain the improved performance. Intracellular phosphate in skeletal muscle is insulated from hypophosphatemia in XLH.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgad642","type":"journal-article","created":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T16:46:26Z","timestamp":1699289186000},"page":"e1061-e1071","source":"Crossref","is-referenced-by-count":7,"title":["Effect of Burosumab on Muscle Function and Strength, and Rates of ATP Synthesis in Skeletal Muscle in Adults With XLH"],"prefix":"10.1210","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6973-5679","authenticated-orcid":false,"given":"Karl L","family":"Insogna","sequence":"first","affiliation":[{"name":"Department of Medicine, Section of Endocrinology, Yale School of Medicine , New Haven, CT 06520-8020 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Section of Endocrinology, Yale School of Medicine , New Haven, CT 06520-8020 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-5074-1822","authenticated-orcid":false,"given":"Stephen","family":"Parziale","sequence":"additional","affiliation":[{"name":"Yale Center for Analytical Sciences, Yale School of Public Health , New Haven, CT 06510 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4333-468X","authenticated-orcid":false,"given":"Yanhong","family":"Deng","sequence":"additional","affiliation":[{"name":"Yale Center for Analytical Sciences, Yale School of Public Health , New Haven, CT 06510 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Carrano","sequence":"additional","affiliation":[{"name":"Rehabilitation Supervisor, Yale New Haven Hospital , New Haven, CT 06510 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Simpson","sequence":"additional","affiliation":[{"name":"Department of Medicine, Section of Endocrinology, Yale School of Medicine , New Haven, CT 06520-8020 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Dufour","sequence":"additional","affiliation":[{"name":"Department of Medicine, Section of Endocrinology, Yale School of Medicine , New Haven, CT 06520-8020 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Carpenter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Endocrinology, Yale School of Medicine , New Haven, CT 06510 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kitt Falk","family":"Petersen","sequence":"additional","affiliation":[{"name":"Department of Medicine, Section of Endocrinology, Yale School of Medicine , New Haven, CT 06520-8020 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2023,11,1]]},"reference":[{"issue":"2","key":"2025052406571706700_dgad642-B1","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng1095-130","article-title":"A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. 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