OBJECTIVES:

Duchenne Muscular Dystrophy (DMD) is a rare condition impacting 1 in 7,250 people in the U.S. We reviewed (i) the evidence related to the burden and (ii) current methods and data sources used for the economic evaluation of DMD. Our study identifies areas of future research that can provide additional information to decision-makers about the value of existing DMD treatments.

METHODS:

A targeted literature review (TLR) was conducted. Abstracts and articles published from 2015 to 2022 having key terms “cost-benefit analysis,” “cost-effective,” “economic model,” “decision-analytic models,” “cost-utility,” and “economic evaluation” from electronic databases (PubMed and Google Scholar) and Tufts Cost-Effectiveness Analysis (CEA) Registry were considered relevant. Exclusion criteria included irrelevant study populations and study types.

RESULTS:

A total of 32 studies were retrieved, of which 17 met the inclusion criteria. The average annual cost burden for DMD was around $30,000 (2010-2013) in the US which increased with age and disease progression. Cost-effectiveness was the most common (5 studies) type of economic evaluation, followed by cost of illness (4 studies) and budget impact analysis (2 studies). The most frequently used method for assessing the cost-effectiveness of an intervention for DMD was the Markov state-transition model, followed by the partitioned survival model and the decision-tree structure. Only one of the five studies evaluated DMD treatments and showed that deflazacort would be the most cost-effective option. Only 9 studies used real-world evidence data.

CONCLUSIONS:

Significant gaps in economic evidence related to the value of DMD treatment exist due to limited data and few available studies, thus creating a challenge for decision-makers. Future economic assessments of DMD and other rare disease treatments should utilize real-world data to greater extents to provide latest cost of illness estimates and to evaluate budget impacts and cost-effectiveness.