Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen.
Georgia Stimpson, Lavinia Fanelli, Eleanor Conway and 6 others
PMID 40504745WHAT IT FOUND
Bulbar function trajectories varied widely in children with SMA1 treated with nusinersen.
Many declined over 2 years, especially in type 1b. Improvement on swallowing scores was mostly driven by normal developmental milestones rather than direct treatment effects.
Key findings
01In the whole cohort, p-FOIS/CEDAS scores remained stable in 55%, decreased in 30%, and increased in 14% of participants over 24 months.
02Improvements on the OrSAT at 24 months were predominantly driven by developmental gains rather than items that were age-appropriate at both baseline and follow-up.
03Participants in the 1b group were more likely to show a deterioration of bulbar function over time compared to participants in the 1c group, despite ongoing treatment.
STILL TO COME
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What it does not show
Small sample size (44 participants) limits generalizability. Retrospective scoring for some data points may introduce bias. Significant differences in age at treatment and baseline function between UK and Italian cohorts confound comparisons. Scales measure functional ability but not objective safety of swallowing.
Declared interests
Multiple authors report financial relationships with Biogen, Novartis, and Roche. The SMA REACH UK registry is cofunded by Roche, Biogen, and Novartis.
The easy way to misread this
Do not interpret OrSAT score improvements as direct evidence of nusinersen efficacy. Most gains were driven by normal developmental milestones (age-related acquisitions) rather than changes in baseline abilities.
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