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Study Characterizes Patient, Caregiver Preferences for SMA Treatments

February 19, 2021

Improvements in motor function and breathing function are among treatment attributes most preferred by patients with spinal muscular atrophy (SMA) and their caregivers, according to a study published online in the Orphanet Journal of Rare Diseases. 

“This study is the first-ever discrete choice experiment to characterize decision-making and benefit-risk trade-offs for SMA treatment characteristics,” researchers wrote. “These findings can inform the perceptions and preferences of SMA patients and their caregivers to stakeholders including regulators, patients, patient advocacy group such as CureSMA, and providers.”

The study included 65 patients with SMA and 36 caregivers. In 12 sets of hypothetical treatments in, participants made choices that ranked the relative importance of five treatment characteristics: (1) improvement or stabilization of motor function; (2) improvement or stabilization of breathing function; (3) indication for all ages or pediatric patients only; (4) route of administration; and (5) potential harm. 

Improvements in motor function and breathing function ranked above stabilization of each function, the study found. Compared with repeated intrathecal injections, respondents preferred a one-time intravenous infusion or daily oral treatments.  

Participants also preferred a broad indication over one with age restrictions, as well as minimal risk over added gains in efficacy. 

“[H]ypothetical treatment attributes and levels may over-simplify any treatment in the real world; treatment decision has to be made in clinical context and tailored to patient specific needs,” researchers wrote. “Nonetheless, these hypothetical scenarios provide insight into patient and caregiver preferences that can inform future drug development and drive the implications for future research of this highly rare, complicated, and expensive disease.” 

Jolynn Tumolo


Monnette A, Chen E, Hong D, et al. Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment. Orphanet J Rare Dis. 2021;16(1):36. Published 2021 Jan 20. doi:10.1186/s13023-020-01667-3

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