Key result
Spinal Muscular Atrophy diagnosis and type correlated with SMN2 copy number and full-length SMN2 transcript levels, which were lower compared to healthy controls, but these measures showed no correlation with each other or motor function.
Why the study?
Do SMN protein, transcript, and copy number correlate with SMA type and motor function in patients with Spinal Muscular Atrophy?
Population
130 subjects, including 108 with Spinal Muscular Atrophy and 22 age and gender-matched healthy controls. Age…
Design
Cross-sectional
Follow-up
single visit
Authors
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SMN2 measures should not guide motor prognosis in SMA; leaves open their utility as target-engagement biomarkers in trials.
Cross-Sectional (n=130)
Yes
Do SMN protein, transcript, and copy number correlate with SMA type and motor function in patients with Spinal Muscular Atrophy?
SMN transcript and protein levels correlate with SMA type but not with motor function, suggesting they may serve as early biomarkers for target engagement rather than direct surrogates for clinical efficacy.
Crawford et al. (2012) conducted a cross-sectional in Spinal Muscular Atrophy (n=130). Spinal Muscular Atrophy vs. Healthy controls was evaluated on SMN transcript and protein levels in blood. Spinal Muscular Atrophy diagnosis and type correlated with SMN2 copy number and full-length SMN2 transcript levels, which were lower compared to healthy controls, but these measures showed no correlation with each other or motor function.
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