OBJECTIVES: The progressive nature of sarcoglycanopathies, a subset of limb girdle muscular dystrophies (LGMDs), has a devastating impact on patients and caregivers. At present, there is insufficient information regarding LGMD disease progression on health-related quality of life (HRQoL), which limits modeling of the potential benefits of a treatment. This analysis describes baseline EuroQol 5-dimension (EQ-5D) data from patients with LGMD2E/R4, 2D/R3, and 2C/R5 enrolled in JOURNEY (NCT04475926), a global, multicenter, prospective, longitudinal, natural history study.

METHODS: EQ-5D-5L Proxy was completed by caregivers of patients aged 4–7 years. EQ-5D-Y was completed by patients 8–17 years, and EQ-5D-5L was completed by patients ≥18 years. Due to the unavailability of a US scoring algorithm for the EQ-5D-Y, utilities were derived using German tariffs. All groups completed the EQ-5D VAS.

RESULTS: Data were available for 91 of 137 enrolled patients (2E/R4: n=24, 2D/R3: n=33, and 2C/R5: n=34) and 47 caregivers. Of the patient sample, 64.8% were female and 49.5% were ambulant.

Mean (SD) utilities declined with increasing age: EQ-5D-5L-Proxy: 0.90 (0.09); EQ-5D-Y: 0.65 (0.27); EQ-5D-5L: 0.48 (0.29). An ANOVA test of linear trends found that this pattern was significant (F_2,88 = 10.35, p<.0001). Mean utilities also declined by ambulatory status (ambulatory, nonambulatory): EQ-5D-Y: (0.74, 0.54); EQ-5D-5L: (0.7, 0.35). Mean (SD) EQ-5D VAS scores were higher than corresponding utilities: children 4–7: 85.22 (15.77); children 8–17: 71.66 (21.27); adults: 67.02 (21.86).

CONCLUSIONS: Findings suggest LGMD is increasingly burdensome with disease progression. Utilities appear to decrease with increasing age, although the effect of methods used to generate preferences in different age groups may have influenced this result. These data demonstrate potential benefit for treating all age groups. EQ-5D VAS scores suggest that people with LGMD may perceive themselves as experiencing less health impairment than suggested by the EQ-5D utilities.