Patient-Reported Outcomes in LGMD 2E/R4, 2D/R3 and 2C/R5: Descriptive Analysis of Baseline PROMIS Data From the JOURNEY Natural History Study

OBJECTIVES: The progressive nature of sarcoglycanopathies, a subset of limb girdle muscular dystrophies (LGMDs), has a devastating impact on patients and caregivers. Data on self-reported impact of LGMD sarcoglycanopathies on physical function and aspects of health-related quality of life is limited. This analysis describes the baseline Patient-Reported Outcomes Measurement Information System (PROMIS) data from patients with LGMD 2E/R4, 2D/R3, and 2C/R5 enrolled in JOURNEY (NCT04475926), a global, multicenter, prospective, longitudinal, natural history study.

METHODS: PROMIS measures administered in JOURNEY included age-appropriate versions of Mobility, Strength Impact, Upper Extremity, Fatigue, Sleep Disturbance, and Positive Affect.

RESULTS: PROMIS data were available for 91 of 137 enrolled subjects (2E/R4: n=25, 2D/R3: n=32, and 2C/R5: n=34). Of this sample, 63.7% were female, 49.5% were ambulant (2E/R4: n=14, 2D/R3: n=20, and 2C/R5: n=11). Mean (SD) age (years) for ambulatory and non-ambulatory participants was 19.1 (14.48) and 26.0 (12.50), respectively.

PROMIS Mobility mean raw scores by subtype and age (8-12, 13-17, >18 y/o) were 2E/R4: 4.1, 4.5, 2.7; 2D/R3: 4.4, 3.8, 3.1; and 2C/R5: 3.9, 2.8, NA, respectively. Mean Strength Impact scores by subtype and age (4-7, 8-12, 13-17 y/o) were 2E/R4: 4.2, 3.4, 2.9; 2D/R3: 2.4, 3.9, 2.9; and 2C/R5: 4.6, 3.2, 2.3, respectively. Mean Upper Extremity Scores by subtype and age (4-7, 8-12, 13-17, ≥18 y/o) were 2E/R4: 4.1, 4.7, 3.1, 3.2; 2D/R3: 3.3, 3.8, 3.4, 3.3; and 2C/R5: 4.7, 3.9, 2.8, 1.8, respectively. Non-ambulatory patients exhibited lower scores on these measures compared to ambulatory patients. Fatigue, Sleep Disturbance, and Positive Affect scores were largely similar across demographic groups.

CONCLUSIONS: This analysis sheds light on baseline PROMIS scores for patients with LGMD sarcoglycanopathies and aids in the selection and interpretation of trial assessments.