OBJECTIVES: Duchenne muscular dystrophy (DMD) is a neuromuscular disorder characterised by progressive muscular damage and degeneration. We conducted a targeted literature review (TLR) to identify evidence on the burden of illness (BOI) in DMD and potential further research needs.

METHODS: MEDLINE, Embase and the Cochrane Library databases were searched in August 2022 to identify studies reporting data for epidemiology, clinical, humanistic, and economic burden of DMD. Citations were screened by a single analyst to assess eligibility based on predefined selection criteria. Relevant data from included studies were extracted into pre-designed data extraction tables.

RESULTS: 3,577 articles were identified in the search and 88 ultimately included in the review. There were considerable research gaps across all domains of the DMD BOI literature, however the most disparate gaps occurred in the societal burden realm. Global epidemiologic studies are required as most studies only considered single geographies. Longitudinal studies are required for both natural history studies examining loss of function with precise tools, and HRQoL studies that chart changes as they relate to age and loss of motor function. Economic burden studies were mostly outdated and require updates to reflect current practices of care. Such studies should include the disease impacts to caregivers and society as a whole as these groups were commonly missing in identified studies. An overall assessment of the global societal burden in DMD appeared to be the most considerable evidence gap identified from the TLR.

CONCLUSIONS: There is extensive evidence describing the burden of DMD, as experienced by patients and caregivers but there are considerable evidence gaps on the overall societal burden relating to outdated data, disparate populations, limited follow-up, and narrow scope. Novel research on the socioeconomic burden of DMD is needed to ensure that the value assessment of new therapies can be contextualised appropriately.