Duchenne Muscular Dystrophy: a systematic review and quantification of the economic burden of disease

Autori: G.L. Colombo, G.M. Bruno, S. Di Matteo, C. Martinotti

Introduction

Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive neuromuscular disorder caused by mutations in the dystrophin gene that result in absent or insufficient functional dystrophin, a cytoskeletal protein essential for the development, stabilization and function of myofibers. Consequently, progressive skeletal, smooth and cardiac muscle damage and degeneration occur in DMD patients, developing in atrophy and muscle weakness, motor delays, loss of ambulation, respiratory impairment, and cardiomyopathy. Our goal has been to collect the available evidence regarding DMD’s cost of illness, in order to see what is missing, what common aspects emerge, which are in contrast (and understand why), and, finally, in order to address choices and new future analyses.

Main body

The results of our systematic review allow confirming the substantial economic burden related to Duchenne Muscular Dystrophy. The included studies identify the cost of DMD in ten (10) countries characterized by different healthcare systems. All the studies reported on total direct costs as the main cost item and have highlighted the prominent role of direct non medical costs on direct medical costs. It is noteworthy that the total direct cost for DMD patients has been reported up to sixteen (16) times higher than the mean per-capita health expenditure in analysed countries (eg the UK).

Conclusion

The variation of cost estimates for different studies and countries highlights the need to clearly understand and address the financial burden of DMD disease. On the basis of the research conducted for this review, we believe it is necessary that future cost-of-illness studies in DMD follow a quality standard protocol with transparent and clearly defined cost components and separate estimates by disease severity and age.

Keywords

Duchenne muscular dystrophy, cost analysis, pharmacoeconomics, cost of illness, economic impact, economic evaluation.

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