Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9:77–93.

Article  PubMed  Google Scholar 

Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010;9:177–89.

Article  PubMed  CAS  Google Scholar 

Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol. 2012;71:304–13.

Article  PubMed  CAS  Google Scholar 

Szabo SM, Audhya IF, Malone DC, Feeny D, Gooch KL. Characterizing health state utilities associated with Duchenne muscular dystrophy: a systematic review. Qual Life Res. 2020;29:593–605.

Article  PubMed  Google Scholar 

Crisafulli S, Sultana J, Fontana A, Salvo F, Messina S, Trifirò G. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis. Orphanet J Rare Dis. 2020;15:141.

Hoffman EP, Brown RH Jr., Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51:919–28.

Article  PubMed  CAS  Google Scholar 

Humbertclaude V, Hamroun D, Bezzou K, Berard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare MC, et al. Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials. Eur J Paediatr Neurol. 2012;16:149–60.

Article  PubMed  Google Scholar 

Salmaninejad A, Jafari Abarghan Y, Bozorg Qomi S, Bayat H, Yousefi M, Azhdari S, Talebi S, Mojarrad M. Common therapeutic advances for Duchenne muscular dystrophy (DMD). Int J Neurosci. 2021;131:370–89.

Article  PubMed  Google Scholar 

Broomfield J, Hill M, Guglieri M, Crowther M, Abrams K. Life Expectancy in Duchenne muscular dystrophy: reproduced individual Patient Data Meta-analysis. Neurology. 2021;97:e2304–14.

Article  PubMed  PubMed Central  Google Scholar 

US Food and Drug Administration. VYONDYS 53 (golodirsen) injection, for intravenous use. Prescribing Information ed.; 2019.

US Food and Drug Administration. EXONDYS 51 (eteplirsen) injection, for intravenous use. Prescribing Information ed.; 2019.

US Food and Drug Administration. VILTEPSO (viltolarsen) injection, for intravenous use. Prescribing Information ed.; 2019.

US Food and Drug Administration. AMONDYS 45 (casimersen) injection, for intravenous use. Prescribing Information ed.; 2021.

US Food and Drug Administration. ELEVIDYS (delandistrogene moxeparvovec-rokl) suspension, for intravenous use. Prescribing Information ed.; 2024.

The World Health Organization Quality of Life assessment (WHOQOL). Position paper from the World Health Organization. Soc Sci Med. 1995;41:1403–9.

Article  Google Scholar 

Landfeldt E, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmuller H, Bushby K. Health-related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross-sectional study. Dev Med Child Neurol. 2016;58:508–15.

Article  PubMed  Google Scholar 

Neumann PJGT, Russell LB, Sanders GD, Siegel JE. Second panel on cost-effectiveness in Health and Medicine. Oxford University Press; 2016.

Horsman J, Furlong W, Feeny D, Torrance G. The Health utilities Index (HUI): concepts, measurement properties and applications. Health Qual Life Outcomes. 2003;1:54.

Article  PubMed  PubMed Central  Google Scholar 

Neumann PJ, Sanders GD. Cost-effectiveness analysis 2.0. N Engl J Med. 2017;376:203–5.

Article  PubMed  Google Scholar 

Sanders GD, Neumann PJ, Basu A, Brock DW, Feeny D, Krahn M, Kuntz KM, Meltzer DO, Owens DK, Prosser LA, et al. Recommendations for Conduct, Methodological Practices, and reporting of cost-effectiveness analyses: second panel on cost-effectiveness in Health and Medicine. JAMA. 2016;316:1093–103.

Article  PubMed  Google Scholar 

Cost-Effectivness. Analysis Registry [www.cearegistry.org ].

Prosser LA. Current challenges and future research in measuring preferences for pediatric health outcomes. J Pediatr. 2009;155:7–9.

Article  PubMed  Google Scholar 

Thorrington D, Eames K. Measuring Health Utilities in Children and adolescents: a systematic review of the literature. PLoS ONE. 2015;10:e0135672.

Article  PubMed  PubMed Central  Google Scholar 

Ryder S, Leadley RM, Armstrong N, Westwood M, de Kock S, Butt T, Jain M, Kleijnen J. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017;12:79.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Landfeldt E, Lindgren P, Bell CF, Schmitt C, Guglieri M, Straub V, Lochmuller H, Bushby K. The burden of Duchenne muscular dystrophy: an international, cross-sectional study. Neurology. 2014;83:529–36.

Article  PubMed  PubMed Central  Google Scholar 

Drummond M. Introducing economic and quality of life measurements into clinical studies. Ann Med. 2001;33:344–9.

Article  PubMed  CAS  Google Scholar 

Kaplan RM. The minimally clinically important difference in generic utility-based measures. COPD. 2005;2:91–7.

Article  PubMed  Google Scholar 

Li C, Gajic-Veljanoski O, Schaink AK, Higgins C, Fasano A, Sikich N, Dhalla I, Ng V. Cost-effectiveness of magnetic resonance-guided focused Ultrasound for essential tremor. Mov Disord. 2019;34:735–43.

Article  PubMed  Google Scholar 

StataCorp. Stata Statistical Software: release 15. College Station. TX: StataCorp LLC; 2017.

Google Scholar 

Microsoft Corporation. Microsoft Excel. Retrieved from https://office.microsoft.com/excel. 2013.

Kim A, Park M, Shin HI. Pain characteristics among individuals with Duchenne muscular dystrophy according to their clinical stage. BMC Musculoskelet Disord. 2022;23:536.

Article  PubMed  PubMed Central  Google Scholar 

Tengs TO, Wallace A. One thousand health-related quality-of-life estimates. Med Care. 2000;38:583–637.

Article  PubMed  CAS  Google Scholar 

Freath LL, Curry AS, Cork DMW, Audhya IF, Gooch KL. QALYs and ambulatory status: societal preferences for healthcare decision making. J Med Econ. 2022;25:888–93.

Article  PubMed  Google Scholar 

Landfeldt E, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmuller H, Bushby K. Quantifying the burden of caregiving in Duchenne muscular dystrophy. J Neurol. 2016;263:906–15.

Article  PubMed  PubMed Central  Google Scholar 

Schwartz CE, Andresen EM, Nosek MA, Krahn GL, Measurement REPHS. Response shift theory: important implications for measuring quality of life in people with disability. Arch Phys Med Rehabil. 2007;88:529–36.

Article  PubMed  Google Scholar 

Vanier A, Oort FJ, McClimans L, Ow N, Gulek BG, Bohnke JR, Sprangers M, Sebille V, Mayo N. Response shift - in Sync Working G: response shift in patient-reported outcomes: definition, theory, and a revised model. Qual Life Res. 2021;30:3309–22.

Article  PubMed  PubMed Central  Google Scholar 

Lipman SA, Brouwer WBF, Attema AE. What is it going to be, TTO or SG? A direct test of the validity of health state valuation. Health Econ. 2020;29:1475–81.

Article  PubMed  PubMed Central  Google Scholar 

Kim J, Jung IY, Kim SJ, Lee JY, Park SK, Shin HI, Bang MS. A New Functional Scale and Ambulatory Functional classification of Duchenne muscular dystrophy: Scale Development and preliminary analyses of reliability and validity. Ann Rehabil Med. 2018;42:690–701.

Article  PubMed  PubMed Central  Google Scholar 

Mercuri E, Signorovitch JE, Swallow E, Song J, Ward SJ, Group DMDI, Trajectory Analysis P. Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2016;26:576–83.

Article  PubMed  PubMed Central  Google Scholar 

Rutten F. Economic evaluation and health care decision-making. Health Policy. 1996;36:215–29.

Article  PubMed  CAS