Top

Published in:

Open Access 01-12-2016 | Research

Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia

Authors: Lydia Forestier-Zhang, Laura Watts, Alison Turner, Harriet Teare, Jane Kaye, Joe Barrett, Cyrus Cooper, Richard Eastell, Paul Wordsworth, Muhammad K. Javaid, Rafael Pinedo-Villanueva

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

Abstract

Background

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.

Results

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.

Conclusions

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.

Available only for authorised users

Dogba MJ, Bedos C, Durigova M, Montpetit K, Wong T, Glorieux FH, Rauch F. The impact of severe osteogenesis imperfecta on the lives of young patients and their parents-a qualitative analysis. BMC Pediatr. 2013;13:153.CrossRefPubMedPubMedCentral

Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet. 2008;371(9629):2039–41.CrossRefPubMed

Cohen JS, Biesecker BB. Quality of life in rare genetic conditions: a systematic review of the literature. Am J Med Genet A. 2010;152A(5):1136–56.CrossRefPubMedPubMedCentral

Testa MA, Simonson DC. Assesment of quality-of-life outcomes. N Engl J Med. 1996;334(13):835–40.CrossRefPubMed

Rajmil L, Perestelo-Pérez L, Herdman M. Quality of life and rare diseases. Adv Exp Med Biol. 2010;686:251–72.CrossRefPubMed

Drummond MF, Wilson DA, Kanavos P, Ubel P, Rovira J. Assessing the economic challenges posed by orphan drugs. Int J Technol Assess Health Care. 2007;23(1):36–42.CrossRefPubMed

US Food & Drug Administration. Developing Products for Rare Diseases & Conditions. Available from: http://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/ucm2005525.htm (Accessed 25 Oct 2016).

Widmann RF, Laplaza FJ, Bitan FD, Brooks CE, Root L. Quality of life in osteogenesis imperfecta. Int Orthop. 2002;26(1):3–6.CrossRefPubMed

Widmann RF, Bitan FD, Laplaza FJ, Burke SW, DiMaio MF, Schneider R. Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta. Spine (Phila Pa 1976). 1999;24(16):1673–8.CrossRef

10.

Balkefors V, Mattsson E, Pernow Y, Sääf M. Functioning and quality of life in adults with mild-to-moderate osteogenesis imperfecta. Physiother Res Int. 2013;18(4):203–11.CrossRefPubMed

11.

Kelly MH, Brillante B, Kushner H, Gehron Robey P, Collins MT. Physical function is impaired but quality of life preserved in patients with fibrous dysplasia of bone. Bone. 2005;37(3):388–94.CrossRefPubMed

12.

Che H, Roux C, Etcheto A, Rothenbuhler A, Kamenicky P, Linglart A, Briot K. Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms. Eur J Endocrinol. 2016;174(3):325–33.CrossRefPubMed

13.

Javaid MK, Forestier-Zhang L, Watts L, Turner A, Ponte C, Teare H, Gray D, Gray N, Popert R, Hogg J, Barrett J, Pinedo-Villanueva R, Cooper C, Eastell R, Bishop N, Luqmani R, Wordsworth P, Kaye J. The RUDY Study Platform – a novel approach to patient driven research in rare musculoskeletal diseases. Orphanet J Rare Dis. 2016;11(1):150.

14.

Herdman M, Gudex C, Lloyd A, Janssen M, Kind P, Parkin D, Bonsel G, Badia X. Development and preliminary testing of the new five-level version of EQ-5D (EQ-5D-5 L). Qual Life Res. 2011;20(10):1727–36.CrossRefPubMedPubMedCentral

15.

Conner-Spady BL, Marshall DA, Bohm E, Dunbar MJ, Loucks L, Khudairy AA, Noseworthy TW. Reliability and validity of the EQ-5D-5 L compared to the EQ-5D-3 L in patients with osteoarthritis referred for hip and knee replacement. Qual Life Res. 2015;24(7):1775–84.CrossRefPubMed

16.

Devlin N, Shah K, Feng Y, Mulhern B, Van Hout B. Valuing Health-Related Quality of Life: An EQ-5D-5L Value Set for England. London: Office of Health Economics; 2016. Research Paper 16/01.

17.

NICE. Guide to the methods of technology appraisal 2013. London: National Institute of Health and Care Excellence; 2013.

18.

Clemens S, Begum N, Harper C, Whitty JA, Scuffham PA. A comparison of EQ-5D-3L population norms in Queensland, Australia, estimated using utility value sets from Australia, the UK and USA. Qual Life Res. 2014;23(8):2375.CrossRefPubMed

19.

Angelis A, Kanavos P, López-Bastida J, Linertová R, Nicod E, Serrano-Aguilar P, BURQOL-RD Research Network. Social and economic costs and health-related quality of life in non-institutionalised patients with cystic fibrosis in the United Kingdom. BMC Health Serv Res. 2015;15:428.CrossRefPubMedPubMedCentral

20.

Tosi LL, Oetgen ME, Floor MK, Huber MB, Kennelly AM, McCarter RJ, Rak MF, Simmonds BJ, Simpson MD, Tucker CA, McKiernan FE. Initial report of the osteogenesis imperfecta adult natural history initiative. Orphanet J Rare Dis. 2015;10:146.CrossRefPubMedPubMedCentral

21.

Feng Y, Devlin N, Herdman M. Assessing the health of the general population in England: how do the three- and five-level versions of EQ-5D compare? Health Qual Life Outcomes. 2015;13(1):171.CrossRefPubMedPubMedCentral

22.

Böckerman P, Johansson E, Saarni SI. Do established health-related quality-of-life measures adequately capture the impact of chronic conditions on subjective well-being? Health Policy. 2011;100(1):91–5.CrossRefPubMed

23.

Hill CL, Baird WO, Walters SJ. Quality of life in children and adolescents with Osteogenesis Imperfecta: a qualitative interview based study. Health Qual Life Outcomes. 2014;12:54.CrossRefPubMedPubMedCentral

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
Authors: Lydia Forestier-Zhang
Laura Watts
Alison Turner
Harriet Teare
Jane Kaye
Joe Barrett
Cyrus Cooper
Richard Eastell
Paul Wordsworth
Muhammad K. Javaid
Rafael Pinedo-Villanueva
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-016-0538-4

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

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

Background

Results

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Results

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2016

Erratum to: Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant

Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation

Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study

Current models of care for disorders of sex development – results from an International survey of specialist centres

Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C