{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T23:25:03Z","timestamp":1781047503056,"version":"3.54.1"},"reference-count":38,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,2,22]],"date-time":"2021-02-22T00:00:00Z","timestamp":1613952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50HD103555"],"award-info":[{"award-number":["P50HD103555"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["U54AR068069"],"award-info":[{"award-number":["U54AR068069"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32GM0752642"],"award-info":[{"award-number":["T32GM0752642"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003227","name":"Osteogenesis Imperfecta Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003227","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Patient\u2010reported outcome measures (PROMs) are increasingly utilized as endpoints in clinical trials. The Short Form Health Survey\u201012 (SF\u201012v2) is a generic PROM for adults. We sought to evaluate the validity of SF\u201012v2 in adults with osteogenesis imperfecta (OI). Physical and mental health\u2010related quality of life (HRQoL) were assessed in a large cohort of adults in a multicenter, observational, natural history study. Physical HRQoL scores were correlated with the Gillette Functional Assessment Questionnaire (GFAQ). We calculated sample sizes required in clinical trials with crossover and parallel\u2010group designs to detect clinically meaningful changes in physical HRQoL. Three hundred and two adults with OI types I, III, and IV were enrolled. Physical HRQoL scores in the study population were lower than population norms. Physical HRQoL scores moderately correlated with GFAQ for OI types I and IV. We found no correlations between mental and physical HRQoL. From a clinical trial readiness perspective, we show that SF\u201012v2 reliably measures physical function in adults with OI and can be utilized in crossover trials to detect meaningful physical HRQoL changes with small sample sizes. This study shows that SF\u201012v2 can be used to measure changes in physical HRQoL in response to interventions in OI.<\/jats:p>","DOI":"10.1111\/cge.13939","type":"journal-article","created":{"date-parts":[[2021,2,14]],"date-time":"2021-02-14T10:37:20Z","timestamp":1613299040000},"page":"772-779","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<scp>Health\u2010related<\/scp>\n                    quality of life in adults with osteogenesis imperfecta"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9781-3387","authenticated-orcid":false,"given":"Chaya N.","family":"Murali","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brady","family":"Slater","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salma","family":"Musaad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\u2010Nutrition Baylor College of Medicine  Houston Texas USA"},{"name":"Children's Nutrition Research Center United States Department of Agriculture\/Agricultural Research Service  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Cuthbertson","sequence":"additional","affiliation":[{"name":"College of Medicine University of South Florida  Tampa Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianne","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia","family":"Turner","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahshid","family":"Azamian","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Tosi","sequence":"additional","affiliation":[{"name":"Bone Health Program Children's National Health System  Washington D.C. Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[{"name":"Shriner's Hospital of Children McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. Reid","family":"Sutton","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Members of the BBD Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6818-7367","authenticated-orcid":false,"given":"Sandesh C. S.","family":"Nagamani","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,2,22]]},"reference":[{"key":"e_1_2_9_2_1","unstructured":"US Food and Drug Administration.Guidance for industry: patient\u2010reported outcome measures: use in medical product development to support labeling claims 2009.https:\/\/www.fda.gov\/downloads\/drugs\/guidancecomplianceregulatoryinformation\/guidances\/UCM193282.pdf."},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0810-x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33380"},{"key":"e_1_2_9_5_1","unstructured":"US Food and Drug Administration.Rare diseases: common issues in drug development guidance for industry DRAFT guidance 2019.https:\/\/www.fda.gov\/drugs\/guidancecomplianceregulatoryinformation\/guidances\/default.htm."},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01400-0"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0718-x"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2015.03.016"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000813"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13440"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181a1ff7b"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-005-1905-5"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3766\/jaaa.19.8.3"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0688-6"},{"key":"e_1_2_9_16_1","unstructured":"American Academy of Orthopaedic Surgeons TheAmerican Academy of Orthopaedic surgeons outcomes instruments: normative values from the general population Norms Base Scoring and Original Standard Raw Scores;2000."},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004694-199809000-00001"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00002060-200301000-00006"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3143"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI71101"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005650-199603000-00003"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2018.05.021"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-017-0301-4"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-199908150-00008"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002640100292"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pri.1546"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/01241398-200001000-00017"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12409"},{"key":"e_1_2_9_29_1","unstructured":"Optum\u00a9. 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