SMA - TREATMENT: EP.286 Phosphorylated neurofilament heavy chain level is associated with future motor function in nusinersen-treated individuals with infantile-onset SMA

Abstract

Neurofilament (NF) isoforms are major structural proteins of the neuronal cytoskeleton and are released into interstitial fluid following axonal damage or neuronal degeneration. Elevated NF levels have been detected in neurodegenerative disorders, including spinal muscular atrophy (SMA). Given that individuals with infantile-onset SMA in the Endear/Shine studies improved following nusinersen treatment, we evaluated the association between baseline (pretreatment) plasma phosphorylated neurofilament heavy chain (pNF-H) levels and the magnitude of improvement from baseline in clinical motor function endpoints.