{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T21:15:48Z","timestamp":1778793348309,"version":"3.51.4"},"reference-count":22,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2022,1,25]],"date-time":"2022-01-25T00:00:00Z","timestamp":1643068800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014480","name":"Horizon Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014480","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JBMR Plus"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The only treatment currently available for patients with severe infantile osteopetrosis is hematopoietic cell transplantation (HCT). HCT\u2010related toxicity and mortality risks typically preclude its use in non\u2010infantile patients, and other therapies are needed for these patients who have significant disease\u2010related morbidity. Interferon gamma\u20101b is currently approved by the U.S. Food and Drug Administration (FDA) for treatment of severe infantile osteopetrosis (autosomal recessive osteopetrosis [ARO]). However, little is known about the effects of interferon gamma\u20101b in non\u2010infantile osteopetrosis. Thus, this pilot study aimed at testing the safety and tolerability of interferon gamma\u20101b in patients with non\u2010infantile osteopetrosis and assessing the clinical effects. We performed a 12\u2010month, open\u2010label, multi\u2010center pilot study involving patients &gt;1\u2009year\u2010old diagnosed radiographically with osteopetrosis. Patients were initiated on interferon gamma\u20101b subcutaneously 15\u2009\u03bcg\/m\n                    <jats:sup>2<\/jats:sup>\n                    three times weekly, to be titrated over 3\u2009weeks to a goal of 100\u2009\u03bcg\/m\n                    <jats:sup>2<\/jats:sup>\n                    three times weekly. The primary aim was safety and tolerability. The secondary aims were to assess changes in peripheral quantitative computed tomography (pQCT), dual\u2010energy x\u2010ray absorptiometry (DXA) bone mineral density (BMD) Z\u2010scores, bone biomarkers, and quality\u2010of\u2010life (QOL) measures. Four of the five participants enrolled withdrew from the study between 3 and 9\u2009months due to intolerability of interferon gamma\u20101b\u2013related flu\u2010like symptoms. The last participant completed the study with the addition of prednisone on days of interferon gamma\u20101b administration. DXA and pQCT outcomes were stable over 6\u201312\u2009months, and there were no clear trends in bone biomarkers or QOL measures. No serious drug\u2010related adverse events were reported during this study. Interferon gamma\u20101b was only tolerable in one of five participants with the addition of prednisone. The stabilization of BMD and other measures of bone health during this study suggest possible positive effects of interferon gamma\u20101b on osteopetrosis; however, additional data are needed before conclusions on treatment efficacy can be made. \u00a9 2022 The Authors.\n                    <jats:italic>JBMR Plus<\/jats:italic>\n                    published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.\n                  <\/jats:p>","DOI":"10.1002\/jbm4.10597","type":"journal-article","created":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T09:16:38Z","timestamp":1641374198000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Open\u2010Label Pilot Study of Interferon Gamma\u20131b in Patients With Non\u2010Infantile Osteopetrosis"],"prefix":"10.1093","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9178-2500","authenticated-orcid":false,"given":"Andrew","family":"Nguyen","sequence":"first","affiliation":[{"name":"Lundquist Institute for Biomedical Innovation at Harbor\u2010UCLA Medical Center  Torrance CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weston P.","family":"Miller","sequence":"additional","affiliation":[{"name":"Audentes Therapeutics, An Astellas Company San Francisco, (formerly at University of Minnesota)  San Francisco CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashish","family":"Gupta","sequence":"additional","affiliation":[{"name":"University of Minnesota  Minneapolis MN USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Troy C.","family":"Lund","sequence":"additional","affiliation":[{"name":"University of Minnesota  Minneapolis MN USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Schiferl","sequence":"additional","affiliation":[{"name":"Bone Diagnostics  Spring Branch TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lok Sze Kelvin","family":"Lam","sequence":"additional","affiliation":[{"name":"Lundquist Institute for Biomedical Innovation at Harbor\u2010UCLA Medical Center  Torrance CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zorayr","family":"Arzumanyan","sequence":"additional","affiliation":[{"name":"Lundquist Institute for Biomedical Innovation at Harbor\u2010UCLA Medical Center  Torrance CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul J.","family":"Orchard","sequence":"additional","affiliation":[{"name":"University of Minnesota  Minneapolis MN USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynda E.","family":"Polgreen","sequence":"additional","affiliation":[{"name":"Lundquist Institute for Biomedical Innovation at Harbor\u2010UCLA Medical Center  Torrance CA 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