Concept Elicitation Interviews and Conceptual Model to Understand the Patient Experience of Limb Girdle Muscular Dystrophy

INTRODUCTION: Limb girdle muscular dystrophies (LGMDs) are a group of rare and heterogeneous disorders involving progressive wasting of shoulder and pelvic girdle musculature. This study aimed to generate qualitative evidence on patient and caregiver experiences with symptoms and impacts of LGMD on overall function and daily life for sarcoglycanopathy subtypes 2C/R5, 2D/R3, and 2E/R4. METHODS: Twenty-three individuals with LGMD with (n = 5) or without (n = 18) a caregiver participated in 60-minute semi-structured video interviews. Interview transcripts were analyzed using thematic analysis. Differences in patient experience by ambulation status and LGMD subtype were examined. RESULTS: Participants were ambulatory (n = 14) and non-ambulatory (n = 9), representing three subtypes: 2C/R5 (n = 4), 2D/R3 (n = 12), and 2E/R4 (n = 7), with mean age of 34.8 years (SD = 16.08). 56.5% identified as female. Conceptual saturation was achieved within 18/23 interviews. Ambulatory participants identified difficulty with complex physical activities, e.g., running (n = 11, 78.6%), physical strength (n = 14, 100%), and difficulty with transfers, e.g., difficulty getting off the floor (n = 10, 71.4%). All non-ambulatory participants discussed problems with activities of daily living (ADLs) and transfers, e.g., getting in/out of bed and upper extremity function, particularly reaching (n = 8, 88.9%) and fine motor skills (n = 6, 66.7%). Fatigue and pain were reported by the majority of participants (n = 16, 69.6% and n = 19, 82.6%, respectively). A conceptual disease model was developed illustrating symptoms and impacts and their relationships to disease stage, capturing the patient experience across LGMD disease trajectory. CONCLUSIONS: This study contributes to the limited evidence describing the patient experience of living with LGMD. The conceptual model can inform patient-centered assessment in future LGMD clinical trials.