@article{d6c1a1410023440d854dac09f013f195,
title = "A multicenter study to evaluate pulmonary function in osteogenesis imperfecta",
abstract = "Pulmonary complications are a significant cause for morbidity and mortality in osteogenesis imperfecta (OI). However, to date, there have been few studies that have systematically evaluated pulmonary function in individuals with OI. We analyzed spirometry measurements, including forced vital capacity (FVC) and forced expiratory volume in the first second (FEV1), in a large cohort of individuals with OI (n = 217) enrolled in a multicenter, observational study. We show that individuals with the more severe form of the disease, OI type III, have significantly reduced FVC and FEV1 which do not follow the expected trends of the normal population. We also show that “normalization” of FVC and FEV1 using general population data to generate percent predicted values underestimates the pulmonary involvement in OI. Within each subtype of OI, we used linear mixed models to find potential correlations between FEV1 and FVC with the clinical variables including mobility, bisphosphonate use, and scoliosis. Our results are an important step in understanding the extent of pulmonary involvement in individuals with OI and for developing pulmonary endpoints for use in the routine patient care as well as in the investigation of new therapies.",
keywords = "lung disease, osteogenesis imperfecta, pulmonary function, spirometry",
author = "{Members of the Brittle Bone Disorders Consortium} and Allison Tam and Shan Chen and Evan Schauer and Ingo Grafe and Venkata Bandi and Shapiro, {Jay R.} and Steiner, {Robert D.} and Smith, {Peter A.} and Bober, {Michael B.} and Tracy Hart and David Cuthbertson and Jeffrey Krischer and Mary Mullins and Byers, {Peter H.} and Sandhaus, {Robert A.} and Michaela Durigova and Glorieux, {Francis H.} and Frank Rauch and {Reid Sutton}, Vernon and Brendan Lee and Rush, {Eric T.} and Nagamani, {Sandesh C.S.}",
note = "Funding Information: support from the Osteogenesis Imperfecta Foundation and Children's Brittle Bone Foundation. This work was supported by the Brittle Bone Disorders Consortium (1U54AR068069-0), a part of the NCATS{\textquoteright} RDCRN. The Brittle Bone disorders Consortium is funded through a collaboration between the ORDR of NCATS, NIAMS, NICHD, and NIDCR. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. The Brittle Bone Disorders Consortium is also supported by the Osteogenesis Imperfecta Foundation. The work was supported by The Clinical Translational Core of BCM IDDRC (1U54HD083092) from the Eunice Kennedy Shriver NICHD. This work was also supported by Shriners of North America. A.T. was supported by NIH training grant (T32GM07526-40). The authors would like to acknowledge the clinical research teams: M.Mullins, A.Tran, S.Carter (BCM); V.Vensel, J. Christie, A.Hata (OHSU); M.Durigova (Shriner's, Montreal); and L. Davey (A.I. duPont Hospital). Funding Information: information National Institutes of Health, Grant/Award Number: T32GM07526U54AR068069U54HD083092; Osteogenesis Imperfecta Foundation; Shriner's of North America; Shriners of North America; The Clinical Translational Core of BCM IDDRC, Grant/Award Number: 1U54HD083092; The Brittle Bone Disorders Consortium Grant/Award Number: 1U54AR068069-0; Children's Brittle Bone Foundation; Osteogenesis Imperfecta FoundationThe authors are very grateful to the participants and their families for their support. The study was developed and implemented by the support from the Osteogenesis Imperfecta Foundation and Children's Brittle Bone Foundation. This work was supported by the Brittle Bone Disorders Consortium (1U54AR068069-0), a part of the NCATS{\textquoteright} RDCRN. The Brittle Bone disorders Consortium is funded through a collaboration between the ORDR of NCATS, NIAMS, NICHD, and NIDCR. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. The Brittle Bone Disorders Consortium is also supported by the Osteogenesis Imperfecta Foundation. The work was supported by The Clinical Translational Core of BCM IDDRC (1U54HD083092) from the Eunice Kennedy Shriver NICHD. This work was also supported by Shriners of North America. A.T. was supported by NIH training grant (T32GM07526-40). The authors would like to acknowledge the clinical research teams: M.Mullins, A.Tran, S.Carter (BCM); V.Vensel, J.Christie, A.Hata (OHSU); M.Durigova (Shriner's, Montreal); and L.Davey (A.I. duPont Hospital). Publisher Copyright: {\textcopyright} 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd",
year = "2018",
month = dec,
doi = "10.1111/cge.13440",
language = "English (US)",
volume = "94",
pages = "502--511",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "6",
}