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Health‐related quality of life in adults with osteogenesis imperfecta
Author(s) -
Murali Chaya N.,
Slater Brady,
Musaad Salma,
Cuthbertson David,
Nguyen Dianne,
Turner Alicia,
Azamian Mahshid,
Tosi Laura,
Rauch Frank,
Sutton V. Reid,
Lee Brendan,
Nagamani Sandesh C. S.
Publication year - 2021
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13939
Subject(s) - medicine , quality of life (healthcare) , clinical trial , population , physical therapy , observational study , sample size determination , cohort , psychological intervention , health related quality of life , minimal clinically important difference , osteogenesis imperfecta , randomized controlled trial , disease , psychiatry , pathology , statistics , nursing , environmental health , mathematics
Patient‐reported outcome measures (PROMs) are increasingly utilized as endpoints in clinical trials. The Short Form Health Survey‐12 (SF‐12v2) is a generic PROM for adults. We sought to evaluate the validity of SF‐12v2 in adults with osteogenesis imperfecta (OI). Physical and mental health‐related 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‐group 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‐12v2 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‐12v2 can be used to measure changes in physical HRQoL in response to interventions in OI.