Background: Until 2016 adults with Spinal Muscular Atrophy (SMA) had no treatment options beyond multidisciplinary management. However, since 2016, two targeted therapies, nusinersen and risdiplam, have become available for adults with SMA, though both were primarily trialed in pediatric patients. The relative dearth of longitudinal studies of targeted therapies in adults with SMA has complicated treatment decisions for this cohort of patients. Despite an evolving treatment landscape, little is known about how adults with SMA evaluate their treatment options, respond to treatment, and the psychosocial impact of novel therapies.
Objective: Accordingly, we aimed to assess how adults with SMA evaluate their treatment options and responses to therapy with attention to individual expectations and experiences of novel therapies and disease progression.
Methods: We performed semi-structured interviews with adults with SMA (N=16), ascertained from UPenn’s MDA clinic. Interviews were performed over audio-recorded teleconference, transcribed verbatim, and analyzed using thematic analysis.
Results: At the time of the interviews, 15/16 participants were receiving treatment with 8 on nusinersen and 7 on risdiplam. Most participants recalled expecting treatments to slow progression though some also anticipated motor improvements. Participants reporting treatment benefit (13/16) described increased energy, slowed progression, regained strength, and emotional benefits. Some participants also described dissatisfaction with treatment including side effects, frustration with dosing, and unmet expectations. 12/16 participants changed treatments at least once with some citing logistical reasons (insurance, transportation, difficulty of intrathecal injection) and others citing a pursuit of better efficacy. Some participants felt that targeted therapies had improved their overall quality of life (QOL), but other factors such as access to caregivers, employment, and relationships were frequently cited as equally important.
Conclusion: Most adults with SMA elected targeted therapies and reported benefits. Many described changing treatments at least once to address logistical challenges associated with treatment and concerns about efficacy.