Background: LOPD is a progressive disease that can lead to irreversible muscle damage, severely impacting breathing, movement, quality of life and daily functioning, placing a burden on individuals, families and caregivers. Standard clinical measures of disease progression, like 6-minute walk test and forced vital capacity, often fail to capture the lived experience of LOPD.
Objectives: This study investigated mobility-aid use as a real-world indicator of functional decline and adaptation in individuals with LOPD.
Results: People living with LOPD or their caregivers in Australia, Canada, Germany, New Zealand, the UK and the USA (N=75; median age 49.0 years [range 2 months to 80 years]) completed surveys and then structured interviews, developed with patient and clinician involvement. Most participants (71%) reported using mobility aids, with 64% of mobility-aid users using more than one, suggesting substantial disease burden. Mobility-aid users reported greater functional impairment, with lower mean Patient-Reported Outcomes Measurement Information System T-scores in managing daily activities (10.1 points lower) and social interactions (0.8 points lower) versus non-users. Despite greater functional impairment, mobility-aid users rated their emotional experience as better than non-users, suggesting adaptive coping or acceptance. Patient quotes revealed that the impact of LOPD on daily activities is an important concern, indicating that the burden extends beyond quantitative functional outcome measures. Only six participants noted accessing occupational therapy, highlighting a critical gap in supportive care.
Conclusions: Overall, these results suggest mobility-aid use substantially impacts the daily lives and emotional wellbeing of people with LOPD and emphasize the importance of integrating psychosocial support and early occupational therapy into care pathways. These findings support a holistic approach to LOPD management, moving beyond standard outcomes to capture the small but meaningful changes in disease progression impacting daily life, to ensure timely, personalized psychosocial and functional support. Supported by Amicus Therapeutics, Inc. Submitted to WORLDSymposium 2026, San Diego, CA, USA.