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Biomarkers predicting motor function in SMA

Presented By
Prof. Valeria Sansone, University of Milano, Italy
Conference
EAN 2020
Trial
Phase 2, NURTURE
Cerebrospinal fluid (CSF) and plasma phosphorylated neurofilament heavy chain (pNfH) levels following nusinersen loading may predict future motor function in participants of the phase 2 study NURTURE [1]. This ongoing open-label study is examining the efficacy and safety of intrathecal nusinersen in presymptomatic infants with 2 or 3 copies of the SMN2 gene. The study enrolled 25 clinically presymptomatic infants that were genetically diagnosed with spinal muscular atrophy (SMA) (15 had 2 copies of SMN2, 10 had 3 copies). All were ≤6 weeks old when treatment was initiated. CSF samples were collected at baseline, on days 1, 15, 29, 64, and 183, and every subsequent 119 days. The samples were used to measure levels of pNfH, which were correlated with Hammersmith Infant Neurological Examin...


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