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ARS Home » Plains Area » Houston, Texas » Children's Nutrition Research Center » Research » Publications at this Location » Publication #382364
Research Project: Preventing the Development of Childhood Obesity

Location: Children's Nutrition Research Center

Title: Health-related quality of life in adults with osteogenesis imperfecta

Author
item MURALI, CHAYA - Baylor College Of Medicine
item SLATER, BRADY - Baylor College Of Medicine
item MUSAAD, SALMA - Children'S Nutrition Research Center (CNRC)
item CUTHBERTSON, DAVID - University Of South Florida College Of Medicine
item NGUYEN, DIANNE - Baylor College Of Medicine
item TURNER, ALICE - Baylor College Of Medicine
item AZAMIAN, MAHSHID - Baylor College Of Medicine
item TOSI, LAURA - Children'S National Medical Center
item RAUCH, FRANK - McGill University - Canada
item SUTTON, V - Baylor College Of Medicine
item LEE, BRENDAN - Baylor College Of Medicine
item NAGAMANI, SANDESH - Baylor College Of Medicine

Submitted to: Clinical Genetics
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 2/9/2021
Publication Date: 2/12/2021
Citation: Murali, C.N., Slater, B., Musaad, S., Cuthbertson, D., Nguyen, D., Turner, A., Azamian, M., Tosi, L., Rauch, F., Sutton, V.R., Lee, B., Nagamani, S.C. 2021. Health-related quality of life in adults with osteogenesis imperfecta. Clinical Genetics. https://doi.org/10.1111/cge.13939.
DOI: https://doi.org/10.1111/cge.13939

Interpretive Summary: Osteogenesis Imperfect (OI) is a genetic disorder that causes bones to break easily. Diet in OI is important to maintain bone health, which can impact quality of life, including physical and mental function. Results from this study can be used to better understand mental and physical functioning in OI. Sample sizes provided can be used to plan clinical trials of OI interventions (e.g. dietary) to detect clinically meaningful changes in quality of life among children with OI.

Technical Abstract: 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.