Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children

Abstract

Abstract Objective The aim of this study was to evaluate neurofilament light chain as blood biomarker for disease activity in children and adolescents with different types of spinal muscular atrophy (SMA) and establish pediatric reference values. Methods We measured neurofilament light chain levels in serum (sNfL) and cerebral spinal fluid (cNfL) of 18 children with SMA and varying numbers of SMN2 copies receiving nusinersen by single‐molecule array (SiMoA) assay and analyzed correlations with baseline characteristics and motor development. Additionally, we examined sNfL in 97 neurologically healthy children. Results Median sNfL levels in treatment‐naïve SMA patients with 2 SMN2 copies are higher than in those with >2 SMN2 copies (P 2 SMN2 copies (r = –0.1, P = 0.744). Interpretation Reference sNfL values of our large pediatric control cohort may be applied for future studies. Strong correlations between sNfL and cNfL together with motor function suggest that sNfL may be a suitable biomarker for disease activity in children with 2 SMN2 copies and those with >2 SMN2 copies within their initial stages during early childhood.