Community-engaged approaches to explore research priorities in Duchenne and Becker muscular dystrophy

Abstract

This thesis presents a series of translational research studies to explore topics of importance to a patient stakeholder community--Duchenne and Becker muscular dystrophy. The overarching objective was to inform a patient/family foundation's interventions and policy and advocacy approaches. Results from a longitudinal study on mothers__ wellbeing support the need for systematic exploration of caregivers__ unmet support needs, especially those related to coping with DMD-related uncertainty and fear. Efforts to improve mothers__ adaptation should focus on fostering resilience and enhancing benefit finding. A study on treatment preferences and disease impact that used Best-Worst Scaling found that caregivers were willing to accept a serious or fatal risk when balanced with a non-curative treatment, even absent lifespan improvement. Parents__ most pressing worries were about symptom progression and access to medical care. The final qualitative studies highlight the complexity of clinical trial decision making, especially for rare, progressive pediatric disorders, where participants equated doing __nothing__ with doing harm. Parents developed intentions to participate in trials before the informed consent process. Parents__ decisions were strongly influenced by the anticipation of individual benefit. The adaptive optimism engendered by the availability of trial was highly valued by both parents and clinicians on trial teams.