Introduction: Duchenne muscular dystrophy (DMD) is a progressive X-linked neuromuscular disorder with limited treatments. In June 2023, FDA approved the first gene therapy (GT) for DMD, marking a shift in care. This study explored values, concerns, and resources influencing GT decisions among primary caregivers of boys with DMD; the first qualitative study of its kind.
Methods: Between August and December 2024, English-speaking caregivers of boys aged >4 with DMD were recruited. A multi-method approach was used: 72 participants completed structured surveys, 9 were purposively selected for semi-structured Zoom interviews. Interviews were analyzed using reflexive thematic analysis within a constructivist paradigm.
Results: The survey showed that 45% (33/72) of respondents were in favor of pursuing commercial GT while 55% (39/72) were either not in favor or unsure. The majority of survey respondents were White women with a mean age of 44.2 years. The majority of their children with DMD were ambulatory with a mean age of 12.5 years. Children with DMD of caregivers in favor of commercial GT displayed more involvement in clinical trials and use of corticosteroids. 12.5% (9/72) of children with DMD whose caregivers participated in this research had already received GT. Qualitative analysis of the interviews revealed five major themes: 1) shared decision making requires diverse input, 2) individual patient needs and disease course guide timing, 3) decisions are fluid, 4) peer and expert input are equally valued, 5) family impact is central. Decision-making was influenced by sources beyond the clinical, including advocacy organizations, treatment sponsors, and informal sources like social media and community support groups.
Conclusion: Where prior research identified preferences around hypothetical GT in DMD, this study expands to broader real-world themes that influence decision-making now that commercial GT is available. Findings highlight the multi-faceted and individualized decision-making that caregivers face when considering commercial GT. In order to balance clinical information, caregivers draw from diverse sources including DMD community insights, personal stories, and their own intuition. Many showed interest in commercial GT but over half were uncertain. This research emphasizes the need for caregivers to have accessible support, accurate information, time for value-aligned decisions, and flexibility to revisit commercial GT options over time.