Abstract
ObjectivesDuchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that causes progressive weakness and early death. Gene therapy is an area of new therapeutic development. This qualitative study explored factors influencing parents’ and adult patients’ preferences about gene therapy.MethodsWe report qualitative data from 17 parents of children with DMD and 6 adult patients. Participants responded to a hypothetical gene therapy vignette with features including non-curative stabilizing benefits to muscle, cardiac and pulmonary function; a treatment-related risk of death; and one-time dosing with time-limited benefit of 8–10 years. We used NVivo 11 to code responses and conduct thematic analyses.ResultsAll participants placed high value on benefits to skeletal muscle, cardiac, and pulmonary functioning, with the relative importance of cardiac and pulmonary function increasing with disease progression. More than half tolerated a hypothetical 1% risk of death when balanced against Duchenne progression and limited treatment options. Risk tolerance increased at later stages. Participants perceived a ‘right time’ to initiate gene therapy. Most preferred to wait until a highly-valued function was about to be lost.ConclusionParticipants demonstrated a complex weighing of potential benefits against harms and the inevitable decline of untreated Duchenne. Disease progression increased risk tolerance as participants perceived fewer treatment options and placed greater value on maintaining remaining function. In the context of a one-time treatment like gene therapy, our finding that preferences about timing of initiation are influenced by disease state suggest the importance of assessing ‘lifetime’ preferences across the full spectrum of disease progression.
Highlights
Duchenne muscular dystrophy (Duchenne) is a rare neuromuscular disorder with onset in early childhood
Participants responded to a hypothetical gene therapy vignette with features including non-curative stabilizing benefits to muscle, cardiac and pulmonary function; a treatment-related risk of death; and one-time dosing with time-limited benefit of 8–10 years
All participants placed high value on benefits to skeletal muscle, cardiac, and pulmonary functioning, with the relative importance of cardiac and pulmonary function increasing with disease progression
Summary
Duchenne muscular dystrophy (Duchenne) is a rare neuromuscular disorder with onset in early childhood. The progressive muscle weakness leads to loss of motor function that is further complicated by pulmonary and cardiac complications, leading to death typically in the third decade [1,2,3]. The distress associated with the Duchenne prognosis, progressive loss of function, and limitations in activities of daily living impact the quality of life of patients [3,4,5] and their caregivers [6,7,8,9,10,11,12,13]. There are two approved therapies in the United States: a corticosteroid therapy appropriate for all patients that slows progression of muscle degeneration [14,15] and a mutation-specific therapy indicated for less than 15% of patients [16,17,18]. Active drug development of multiple investigational therapeutic modalities continues in Duchenne [19], including in gene therapy ( termed gene transfer) [20,21]
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have