Abstract
Objective Evidence is emerging that new therapies may provide effective treatment for adults with spinal muscular atrophy (SMA). We aimed to understand expectations of treatment within the adult SMA community in Australia.
Methods Expressions of interest to participate in focus groups were sought from the adult SMA community through social media and recommendations from treating neurologists. Purposive sampling was used to ensure broad geographic and phenotypic representation. Focus groups were conducted over zoom with neurologist facilitation. Each session involved three, 30 minutes blocks covering expectations, assessments and treatments. Sessions were recorded and transcribed verbatim. Qualitative analysis was performed using reflexive thematic analysis.
Results Nine sessions of 1 to 6 participants were conducted in December 2021. Twenty-eight adults with SMA (non-sitters 13, sitters 8, stand/walkers 7) participated with representation from all states (except ACT). Participants defined treatment effectiveness as stabilisation or slowed decline of existing functional abilities, with any improvement considered a bonus. There was concern that existing methods for evaluating treatment outcomes may not be sensitive enough to detect clinically meaningful changes such as endurance and small movements. Extensive discussion occurred regarding factors that contribute to quality of life. Participants emphasised the importance of maintaining abilities that corresponded with independence such as driving a powerchair, adjusting bed covers and blowing one’s own nose. These expectations were realistic when compared with outcomes from observational studies.
Conclusions Adults living with SMA are hopeful that treatment will confer stabilisation or slowing of disease progression leading to prolonged maintenance of existing level of independence.
