OBJECTIVES: To conduct a systematic literature review of the economic and humanistic burden of Duchenne muscular dystrophy (DMD) on patients and caregivers.

METHODS: A systematic literature review was conducted using PRISMA guidelines by searching PubMed and Embase for full-text articles reporting the economic, and humanistic burden of patients with DMD and their caregivers. No geographic limits were included in this review. Studies published between January 1, 2000 and January 10, 2022 were included in the search.

RESULTS: A total of 2,166 unique publications was identified. Of these, 102 studies were included in the final review after title and abstract screening. Results showed that while annual costs of DMD varied across different countries, the economic burden of DMD proved to be substantial with a mean per-patient annual direct cost between $23,920 and $54,270 in 2012 international dollars. Caregiving in DMD was associated with reduced work productivity, such as in the US, where caregivers worked on average 296 fewer hours per year than parents of unaffected children. Anxiety and depression were also common and strongly associated with the caregiver’s perception of the patient’s physical and mental health status. This review also found that patient and caregiver-proxy health-related quality of life ratings were discordant, with patient self-reported scores higher than caregiver-proxy scores.

CONCLUSIONS: A synthesis of contemporary data describing the burden of illness of DMD reports the economic and humanistic burden to be substantial. This literature review identifies various gaps in illustrating the DMD journey for patients and their caregivers, specifically capturing and defining non-direct costs of DMD. As the DMD treatment landscape continues to evolve along with the DMD experience, more granular research is needed to better understand the true economic and humanistic implications of DMD.