title: Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.
abstract: Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate the maximum cost that a health care system would be willing to pay for a hypothetical treatment of a rare bone disease.
  
  
  
  Participants completed the EQ-5D-5 L questionnaire between September 2014 and March 2016. For the economic simulation, we considered a hypothetical treatment that would be applied to OI participants in the lower tertile of the health utility score. A total of 109 study participants fully completed the EQ-5D-5 L questionnaire (response rate 63%). Pain/discomfort was the most problematic domain for participants with all three diseases (FD 31%, XLH 25%, OI 16%). The economic simulation identified an expected treatment impact of +2.5 QALYs gained per person during the 10-year period, which led to a willing to pay of £14,355 annually for a health care system willing to pay up to £50,000 for each additional QALY gained by an intervention.
  
  
  
  This is the first study to quantitatively measure and compare the HRQoL of adults with OI, FD and XLH and the first to use such data to conduct an economic simulation leading to healthcare system willingness-to-pay estimates for treatment of musculoskeletal rare diseases at various cost-effectiveness thresholds.
authors.affiliation: Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford NIHR Musculoskeletal Biomedical Research Unit, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.
authors.forename: Lydia
authors.initials: L
authors.lastname: Forestier-Zhang
authors.affiliation: Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford NIHR Musculoskeletal Biomedical Research Unit, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.
authors.forename: Laura
authors.initials: L
authors.lastname: Watts
authors.affiliation: Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford NIHR Musculoskeletal Biomedical Research Unit, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.
authors.forename: Alison
authors.initials: A
authors.lastname: Turner
authors.affiliation: Department of Public Health, University of Oxford, Oxford, UK.
authors.forename: Harriet
authors.initials: H
authors.lastname: Teare
authors.affiliation: Department of Public Health, University of Oxford, Oxford, UK.
authors.forename: Jane
authors.initials: J
authors.lastname: Kaye
authors.affiliation: Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford NIHR Musculoskeletal Biomedical Research Unit, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.
authors.forename: Joe
authors.initials: J
authors.lastname: Barrett
authors.affiliation: Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford NIHR Musculoskeletal Biomedical Research Unit, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.|MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK.
authors.forename: Cyrus
authors.initials: C
authors.lastname: Cooper
authors.affiliation: Academic Unit of Bone Metabolism, Metabolic Bone Centre, Northern General Hospital, Sheffield, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Eastell
authors.affiliation: Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford NIHR Musculoskeletal Biomedical Research Unit, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.
authors.forename: Paul
authors.initials: P
authors.lastname: Wordsworth
authors.affiliation: Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford NIHR Musculoskeletal Biomedical Research Unit, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK. kassim.javaid@ndorms.ox.ac.uk.|The Botnar Research Centre, NIHR Oxford Musculoskeletal BRU, NDORMS, University of Oxford, Oxford, OX3 7HE, UK. kassim.javaid@ndorms.ox.ac.uk.
authors.forename: Muhammad K
authors.initials: MK
authors.lastname: Javaid
authors.affiliation: Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford NIHR Musculoskeletal Biomedical Research Unit, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.
authors.forename: Rafael
authors.initials: R
authors.lastname: Pinedo-Villanueva
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D003430:Cross-Sectional Studies; D053098:Familial Hypophosphatemic Rickets / Q000503:physiopathology*; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000503:physiopathology*; D011788:Quality of Life; D006113:United Kingdom; D055815:Young Adult
keywords: Economic evaluation; Fibrous dysplasia; McCune Albright syndrome; Osteogenesis imperfecta; Quality of life; X-linked hypophosphatemia