Objective: We sought to investigate the most important treatment characteristic preferences of US families and US health care professionals (HCPs) in choosing disease-modifying treatments (DMTs) for spinal muscular atrophy (SMA) types 1 and 2.
Background: Three DMTs have been approved for SMA treatment in recent years: a one-time intravenous gene replacement therapy, onasemnogene abeparvovec, and ongoing intrathecal (nusinersen) and oral (risdiplam) survival motor neuron 2 gene-splicing modifiers. Data on caregiver and HCP preferences for different treatment characteristics are useful for informing treatment choices.
Design/Methods: Based on a literature review of patients’ and caregivers’ perceptions of SMA treatments, we created an interview guide that included scripted prompts. Detailed one-on-one telephone interviews with caregivers and HCPs were conducted and recorded, during which their experiences with and preferences for SMA treatments were obtained. Transcripts were analyzed and summarized to highlight participants’ responses.
Results: Four caregivers of children (aged 3–15 years) who received SMA DMTs and four HCPs (three neurologists and one nurse specializing in pediatric neurology) with experience in SMA treatment participated. Caregivers primarily considered treatment efficacy (increasing chances of survival and improving patients’ independence), burden of administration (invasiveness of administration, total time spent on activities related to treatment administration [including travel]), long-term safety, and accessibility of therapy (time required to obtain the first dose). HCPs primarily focused on effectiveness (improvement in motor, respiratory, or bulbar function, or slowing of disease progression) and availability/quality of evidence (clinical trial data or personal observation), but also considered invasiveness of administration and accessibility of treatment (ease of obtaining reimbursement).
Conclusions: According to caregivers and HCPs, the most important characteristics of DMTs for treating SMA types 1 and 2 were effectiveness, burden of administration, and accessibility. These initial results will provide the basis for a quantitative study to measure and prioritize caregivers’ preferences for SMA treatments.