Abstract

Objectives

Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease that causes substantial economic burden. This study aims to measure the DMD cost from societal perspective and the quality of life (QOL) of the Egyptian patients.

Methods

We conducted interviews with caregivers of patients with DMD. The questionnaire included demographics, healthcare resource use, and nonmedical and indirect costs. Total disease burden was estimated with a bottom-up approach. QOL was measured with a disease-specific tool. Costs and utilities were stratified by the disease stage.

Results

Caregivers of 97 patients with DMD were interviewed. The mean annual per-patient cost of $17 485 (SD ± 9240) was estimated resulting in a total burden of $138 217 043 in Egypt. Nonmedical costs made up the largest category representing 54% followed by medical then indirect costs. Informal care made the greatest contribution of nonmedical costs whereas physiotherapy was the largest medical subcategory. Nonmedical costs were highest in stage 3 and lowest at early stages whereas medical costs were almost steady among all stages with differences in individual subcategories. Of all medical costs, 95% were out of pocket. The mean utility score was 0.43 (± 0.31), which decreases with disease progression.

Conclusion

Our study quantified the huge economic burden of DMD on the society and how it differs in different stages. Almost the whole burden is paid by households resulting in catastrophic expenditures, which leads to reduced compliance and quality of care. QOL is also severely compromised. Our findings can inform future healthcare policies and economic evaluation of new DMD therapies.