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Quality of Life Research
Published in: Quality of Life Research 3/2020

Open Access 01-03-2020 | Muscular Dystrophy | Review

Characterizing health state utilities associated with Duchenne muscular dystrophy: a systematic review

Authors: Shelagh M. Szabo, Ivana F. Audhya, Daniel C. Malone, David Feeny, Katherine L. Gooch

Published in: Quality of Life Research | Issue 3/2020

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Abstract

Background

Preferences for health states for Duchenne muscular dystrophy (DMD) are necessary to assess costs and benefits of novel therapies. Because DMD progression begins in childhood, the impact of DMD on health-related quality-of-life (HRQoL) affects preferences of both DMD patients and their families. The objective of this review was to synthesize published evidence for health state utility from the DMD patient and caregiver perspectives.

Methods

A systematic review was performed using MEDLINE and Embase, according to best practices. Data were extracted from studies reporting DMD patient or caregiver utilities; these included study and patient characteristics, health states considered, and utility estimates. Quality appraisal of studies was performed.

Results

From 888 abstracts, eight publications describing five studies were identified. DMD utility estimates were from preference-based measures presented stratified by ambulatory status, ventilation, and age. Patient (or patient–proxy) utility estimates ranged from 0.75 (early ambulatory DMD) to 0.05 (day-and-night ventilation). Caregiver utilities ranged from 0.87 (for caregivers of adults with DMD) to 0.71 (for caregivers of predominantly childhood patients). Both patient and caregiver utilities trended lower with higher disease severity. Variability in utilities was observed based on instrument, respondent type, and country. Utility estimates for health states within non-ambulatory DMD are under reported; nor were utilities for DMD-related health states such as scoliosis or preserved upper limb function identified.

Conclusion

Published health state utilities document the substantial HRQoL impacts of DMD, particularly with disease progression. Additional research in patient utilities for additional health states, particularly in non-ambulatory DMD patients, is warranted.
Appendix
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Literature
1.
Emery, A. E. (1991). Population frequencies of inherited neuromuscular diseases—A world survey. Neuromuscular Disorders,1(1), 19–29.PubMed
2.
Mendell, J. R., & Lloyd-Puryear, M. (2013). Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy. Muscle and Nerve,48(1), 21–26.PubMed
3.
Bello, L., Morgenroth, L. P., Gordish-Dressman, H., Hoffman, E. P., McDonald, C. M., Cirak, S., et al. (2016). DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study. Neurology,87(4), 401–409.PubMedPubMedCentral
4.
Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., et al. (2010). Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management. Lancet Neurology,9(1), 77–93.PubMed
5.
McDonald, C. M., Henricson, E. K., Abresch, R. T., Duong, T., Joyce, N. C., Hu, F., et al. (2018). Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: A prospective cohort study. Lancet,391(10119), 451–461.PubMed
6.
Birnkrant, D. J., Bushby, K., Bann, C. M., Apkon, S. D., Blackwell, A., Brumbaugh, D., et al. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurology,17(3), 251–267.PubMed
7.
Berger, M. L., Bingefors, K., Hedblom, E. C., Pashos, C. L., & Torrance, G. W. (2003). Health care cost, quality and outcomes. Lawrenceville, NJ: International Society for Pharmacoeconomics and Outcomes Research.
8.
Briggs, A., Claxton, K., & Sculphur, M. (2006). Decision Modelling for Health Economic Evaluation (Handbooks in Health Economic Evaluation). Oxford: Oxford University Press.
9.
Torrance, G. W. (1986). Measurement of health state utilities for economic appraisal. Journal of Health Economics,5(1), 1–30.PubMed
10.
Horsman, J., Furlong, W., Feeny, D., & Torrance, G. (2003). The Health Utilities Index (HUI): Concepts, measurement properties and applications. Health and Quality of Life Outcomes,1, 54.PubMedPubMedCentral
11.
EuroQol, G. (1990). EuroQol—A new facility for the measurement of health-related quality of life. Health Policy,16(3), 199–208.
12.
National Institute for Health Care and Excellence. (2013). Guide to the methods of technology appraisal 2013. London: National Institute for Health Care and Excellence.
13.
The Institute for Clinical and Economic Review (ICER). (2018). ICER’s reference case for economic evaluations: Principles and rationale.
14.
The Institute for Clinical and Economic Review. (2017). Modifications to the ICER value assessment framework for treatments for ultra-rare diseases.
15.
Landfeldt, E., Mayhew, A., Eagle, M., Lindgren, P., Bell, C. F., Guglieri, M., et al. (2015). Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT). Neuromuscular Disorders,25(12), 937–944.PubMed
16.
Ryder, S., Leadley, R. M., Armstrong, N., Westwood, M., De Kock, S., Butt, T., et al. (2017). The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: An evidence review. Orphanet Journal of Rare Diseases,12(1), 79.PubMedPubMedCentral
17.
Landfeldt, E., Lindgren, P., Bell, C. F., Schmitt, C., Guglieri, M., Straub, V., et al. (2014). The burden of Duchenne muscular dystrophy: An international, cross-sectional study. Neurology,83(6), 529–536.PubMedPubMedCentral
18.
Landfeldt, E., Lindgren, P., Bell, C. F., Guglieri, M., Straub, V., Lochmuller, H., et al. (2016). Quantifying the burden of caregiving in Duchenne muscular dystrophy. Journal of Neurology,263(5), 906–915.PubMedPubMedCentral
19.
Moher, D., Liberati, A., Tetzlaff, J., Altman, D. G., & Group, P. (2009). Preferred reporting items for systematic reviews and meta-analyses: The PRISMA statement. Journal of Clinical Epidemiology,62(10), 1006–1012.PubMed
20.
21.
Papaioannou, D., Brazier, J., & Paisley, S. (2013). Systematic searching and selection of health state utility values from the literature. Value Health,16(4), 686–695.PubMed
22.
Meregaglia, M., & Cairns, J. (2017). A systematic literature review of health state utility values in head and neck cancer. Health and Quality of Life Outcomes,15(1), 174.PubMedPubMedCentral
23.
Landfeldt, E., Lindgren, P., Bell, C. F., Guglieri, M., Straub, V., Lochmuller, H., et al. (2016). Health-related quality of life in patients with Duchenne muscular dystrophy: A multinational, cross-sectional study. Developmental Medicine and Child Neurology,58(5), 508–515.PubMed
24.
Cavazza, M., Kodra, Y., Armeni, P., De Santis, M., Lopez-Bastida, J., Linertova, R., et al. (2016). Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe. European Journal of Health Economics,17(Suppl 1), 19–29.
25.
Landfeldt, E., Mayhew, A., Straub, V., Lochmuller, H., Bushby, K., & Lindgren, P. (2018). Psychometric analysis of the pediatric quality of life inventory 3.0 neuromuscular module administered to patients with duchenne muscular dystrophy: A rasch analysis. Muscle Nerve,58(3), 367–373.PubMed
26.
Magnetta, D. A., Kang, J., Wearden, P. D., Smith, K. J., & Feingold, B. (2018). Cost-effectiveness of ventricular assist device destination therapy for advanced heart failure in Duchenne muscular dystrophy. Pediatric Cardiology,39(6), 1242–1248.PubMed
27.
Pangalila, R. F., van den Bos, G. A., Stam, H. J., van Exel, N. J., Brouwer, W. B., & Roebroeck, M. E. (2012). Subjective caregiver burden of parents of adults with Duchenne muscular dystrophy. Disability and Rehabilitation,34(12), 988–996.PubMed
28.
Uzark, K., King, E., Cripe, L., Spicer, R., Sage, J., Kinnett, K., et al. (2012). Health-related quality of life in children and adolescents with Duchenne muscular dystrophy. Pediatrics,130(6), e1559–e1566.PubMed
29.
Schwartz, C. E., Andresen, E. M., Nosek, M. A., Krahn, G. L., & Measurement, R. E. P. o. H. S. (2007). Response shift theory: Important implications for measuring quality of life in people with disability. Archives of Physical Medicine and Rehabilitation,88(4), 529–536.PubMed
30.
Janssens, A., Thompson Coon, J., Rogers, M., Allen, K., Green, C., Jenkinson, C., et al. (2015). A systematic review of generic multidimensional patient-reported outcome measures for children, Part I: Descriptive characteristics. Value Health,18(2), 315–333.PubMed
31.
Wille, N., Badia, X., Bonsel, G., Burstrom, K., Cavrini, G., Devlin, N., et al. (2010). Development of the EQ-5D-Y: A child-friendly version of the EQ-5D. Quality of Life Research,19(6), 875–886.PubMedPubMedCentral
32.
Powell, P. A., Carlton, J., Rowen, D., & Brazier, J. E. (2019). Producing a preference-based quality of life measure for people with Duchenne muscular dystrophy: A mixed-methods study protocol. British Medical Journal Open,9(3), e023685.
33.
Uttley, L., Carlton, J., Woods, H. B., & Brazier, J. (2018). A review of quality of life themes in Duchenne muscular dystrophy for patients and carers. Health and Quality of Life Outcomes,16(1), 237.PubMedPubMedCentral
34.
Versteegh, M. M., Leunis, A., Uyl-de Groot, C. A., & Stolk, E. A. (2012). Condition-specific preference-based measures: Benefit or burden? Value Health,15(3), 504–513.PubMed
35.
Landfeldt, E., Alfredsson, L., Straub, V., Lochmuller, H., Bushby, K., & Lindgren, P. (2017). Economic evaluation in Duchenne muscular dystrophy: Model frameworks for cost-effectiveness analysis. Pharmacoeconomics,35(2), 249–258.PubMed
36.
Henricson, E. K., Abresch, R. T., Cnaan, A., Hu, F., Duong, T., Arrieta, A., et al. (2013). The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures. Muscle and Nerve,48(1), 55–67.PubMed
37.
Janssen, M. M., Hendriks, J. C., Geurts, A. C., & de Groot, I. J. (2016). Variables associated with upper extremity function in patients with Duchenne muscular dystrophy. Journal of Neurology,263(9), 1810–1818.PubMedPubMedCentral
38.
Prosser, L. A., Hammitt, J. K., & Keren, R. (2007). Measuring health preferences for use in cost-utility and cost-benefit analyses of interventions in children: Theoretical and methodological considerations. Pharmacoeconomics,25(9), 713–726.PubMed
39.
Pickard, A. S., & Knight, S. J. (2005). Proxy evaluation of health-related quality of life: A conceptual framework for understanding multiple proxy perspectives. Medical Care,43(5), 493–499.PubMedPubMedCentral
40.
Damschroder, L. J., Zikmund-Fisher, B. J., & Ubel, P. A. (2005). The impact of considering adaptation in health state valuation. Social Science and Medicine,61(2), 267–277.PubMed
41.
Sneeuw, K. C., Sprangers, M. A., & Aaronson, N. K. (2002). The role of health care providers and significant others in evaluating the quality of life of patients with chronic disease. Journal of Clinical Epidemiology,55(11), 1130–1143.PubMed
42.
Szende, A., Williams, A., & On behalf of the EuroQol Group’s International Task Force on Self-Reported Health. (2004). Measuring self-reported population health: An international perspective. Rotterdam: EuroQol.
43.
44.
Norman, R., Cronin, P., Viney, R., King, M., Street, D., & Ratcliffe, J. (2009). International comparisons in valuing EQ-5D health states: A review and analysis. Value Health,12(8), 1194–1200.PubMed
45.
Bello, L., & Pegoraro, E. (2016). Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy. Acta Myologica,35(3), 122–127.PubMedPubMedCentral
46.
Knapp, C., Madden, V., Revicki, D., Feeny, D., Wang, H., Curtis, C., et al. (2012). Health status and health-related quality of life in a pediatric palliative care program. J Palliat Med,15(7), 790–797.PubMed
47.
Whicher, D., Philbin, S., & Aronson, N. (2018). An overview of the impact of rare disease characteristics on research methodology. Orphanet Journal of Rare Diseases,13(1), 14.PubMedPubMedCentral
48.
Jardine, J., Glinianaia, S. V., McConachie, H., Embleton, N. D., & Rankin, J. (2014). Self-reported quality of life of young children with conditions from early infancy: A systematic review. Pediatrics,134(4), e1129–e1148.PubMed
49.
National Institute for Health Care and Excellence. (2018). Developing NICE guidelines: the manual. London: National Institute for Health and Care Excellence.
50.
McDonald, C. M., Henricson, E. K., Abresch, R. T., Florence, J., Eagle, M., Gappmaier, E., et al. (2013). The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicenter study. Muscle and Nerve,48(3), 357–368.PubMed
51.
52.
Sampson, C., & Garau, M. (2019). How should we measure quality of life impact in rare disease? Recent learnings in spinal muscular atrophy. Office of Health Economics.
53.
Prosser, L. A., Ray, G. T., O’Brien, M., Kleinman, K., Santoli, J., & Lieu, T. A. (2004). Preferences and willingness to pay for health states prevented by pneumococcal conjugate vaccine. Pediatrics,113(2), 283–290.PubMed
Metadata
Title
Characterizing health state utilities associated with Duchenne muscular dystrophy: a systematic review
Authors
Shelagh M. Szabo
Ivana F. Audhya
Daniel C. Malone
David Feeny
Katherine L. Gooch
Publication date
01-03-2020
Publisher
Springer International Publishing
Published in
Quality of Life Research / Issue 3/2020
Print ISSN: 0962-9343
Electronic ISSN: 1573-2649
DOI
https://doi.org/10.1007/s11136-019-02355-x

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