Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development

Area of Science:

• Rare disease drug development
• Patient-centered research
• Neuromuscular diseases

Background:

• Incorporating patient preferences is vital for rare diseases with unmet needs.
• Rare neuromuscular diseases (NMDs) like myotonic dystrophy type 1 (DM1) and mitochondrial myopathy (MM) require patient-centric approaches.
• Understanding patient and caregiver priorities informs effective drug development.

Purpose of the Study:

• To explore benefit-risk trade-offs for patients and caregivers in DM1 and MM using Best-Worst Scaling type 2 (BWS-2).
• To identify and prioritize key treatment benefits and risks for patients with rare neuromuscular diseases.
• To inform future drug development strategies for NMDs by understanding patient preferences.

Main Methods:

• A Best-Worst Scaling type 2 (BWS-2) survey was administered to patients with DM1 and MM, and their caregivers.
• Participants evaluated treatment benefits (muscle strength, energy, balance, cognition) and risks (liver damage, blurred vision).
• Latent class analysis was used to determine the relative importance of treatment attributes, with stratification by disease and age of onset.

Main Results:

• Across all participant groups, improvements in muscle strength (24%) and energy/endurance (23%) were the highest priorities.
• Caregivers placed a greater emphasis on cognitive improvements (17%) compared to patients.
• No significant differences in priorities were observed between the DM1 and MM disease groups or by age of onset.

Conclusions:

• Patient preferences, particularly for muscle strength and energy, are critical for developing effective treatments for rare neuromuscular diseases.
• The consensus in priorities across DM1 and MM suggests that shared clinical features can streamline drug development for rare diseases.
• This research highlights the importance of integrating patient-reported outcomes into the rare disease drug development pipeline.