OBJECTIVES: Duchenne muscular dystrophy (DMD) is a rapidly progressive, X-linked, recessive inherited neuromuscular disorder, associated with substantial costs and healthcare resource use (HCRU) that increase with disease progression. Two systematic literature reviews (SLR) were conducted to identify (1) health state utility values (HSUV) and (2) HCRU and cost data in DMD.

METHODS: Searches were conducted in October 2023 and updated in January 2024 (PROSPERO registration: CRD42023483771). The HSUV SLR was updated from a previously published SLR (Szabo et al. 2020). Embase and MEDLINE were searched in both SLRs. The Centre for Reviews and Dissemination (CRD) databases and EconLit were also searched in the HCRU and cost SLR. Conference proceedings, HTA/economic websites, and SLR reference lists were hand-searched in both SLRs.

RESULTS: In the HSUV SLR, a total of 25 publications reporting on 21 unique studies were included for data extraction. Instruments used included the EQ-5D, Health Utilities Index, and time trade-off method as well as the disease-specific DMD-QoL. Overall, there was a trend of lower utility among non-ambulatory patients compared to ambulatory patients. The same trend was seen in caregivers’ HSUV.

In the HCRU and cost SLR, 77 publications reporting on 73 unique studies were included and 38 publications prioritized for data extraction. Of these, 17 reported both HCRU and costs, 14 reported HCRU alone, and 7 reported costs alone. The studies emphasized the impact of DMD on patients, caregivers, and the healthcare system, primarily due to hospitalizations, the effect on employment, and home care needs.

CONCLUSIONS: The results of the SLRs highlight the substantial impact of DMD on the health-related quality of life (HRQoL) for both patients and caregivers, and HCRU and cost for healthcare payers. Overall, there is an unmet need for more efficacious therapies that can increase patients’ HRQoL and reduce healthcare costs and resource use.