OBJECTIVES: The progression of DMD is characterized by loss of ambulation (LOA) and upper limb function, cardiorespiratory impairment, and early mortality. While much attention is focused on LOA, the impact of other aspects of progression on HRQoL is less clear. Understanding patient perspectives on these aspects is important to provide context to clinical health states in DMD, and link changes in DMD symptoms to patient experiences. The objective of this study was to obtain insights on how key health state transitions affect HRQoL among individuals with DMD.

METHODS: Qualitative interviews were conducted with individuals with DMD (and caregiver proxies) from the US. Interviews sought to understand patient experiences living with DMD, the nature of health state transitions as DMD progresses, and the resultant HRQoL impacts. Demographic and clinical characteristics of participants were summarized, and a thematic analysis performed to explore how HRQoL was affected by health state transitions.

RESULTS: Twenty-one caregivers, three patients, and five patient-caregiver dyads were interviewed. Mean (standard deviation) patient age was 12.9 (5.9) years; 58.6% were non-ambulatory. Key health state transitions included LOA, loss of upper limb function, and starting nocturnal ventilation. LOA was described as a gradual yet challenging transition; use of mobility devices reportedly helped patients regain some independence. Loss of upper limb function was often described as more difficult than LOA, as it greatly impacted patients’ ability to complete everyday tasks. Initiation of nocturnal ventilation caused anxiety for some, but among those who did so, after gaining experience it often helped improve sleep quality and daytime energy.

CONCLUSIONS: While patients report LOA, loss of upper limb function, and initiating nocturnal ventilation have substantive impacts on HRQoL, loss of upper limb function has a more prominent role given the accompanying loss of independence. These findings highlight DMD attributes considered important from the patient perspective.