Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development

Incorporating patient preferences into drug development is crucial, particularly, for rare diseases with significant unmet needs. This study used Best-Worst Scaling type 2 (BWS-2) to explore benefit–risk trade-offs for patients and caregivers in two rare neuromuscular diseases (NMDs), myotonic dystrophy type 1 (DM1), and mitochondrial myopathy (MM). Patients with DM1 and MM, along with caregivers, completed a BWS-2 survey assessing four treatment benefits (muscle strength, energy and endurance, balance, cognition) and two risks (permanent liver damage, temporary blurring of vision). Participants were stratified by disease group and age of onset (< 20, ≥ 20 years). A latent class analysis was used to calculate the relative importance of each treatment attribute. Sociodemographic and disease-related data were also collected. A total of 270 participants (DM1 n = 143, MM n = 127, including 37 caregivers) were included. BWS-2 results revealed a priority for improvements in muscle strength (24%), and energy and endurance (23%) across all groups, with caregivers placing a higher priority on cognition improvements (17%) compared to patients. There were no significant differences between disease groups or by age of onset. This study underscores the importance of patient preferences in drug development for rare NMDs. The consensus on treatment priorities across both diseases suggests that overlapping clinical features can inform and expedite future NMD or rare disease drug development.