Topic: nusinersen

Spinal muscular atrophy (SMA) is a rare neuromuscular disease caused by a homozygous deletion of the SMN1 gene. The resulting lack of survival motor neuron (SMN) protein leads to progressive muscle weakness and often respiratory insufficiency. There is unmet need for reliable biomarkers to predict disease severity, prognosis, and treatment effect in patients with SMA. Nusinersen is an antisense oligonucleotide that leads to an increased SMN protein production by the SMN2 genes and has been shown to be effective in children and adults with SMA. Previously, we have shown that neurofilament (NF)

Objectives To determine whether plasma neurofilament light chain (pNfL) can be a reliable and minimally invasive biomarker for monitoring response in children with later-onset spinal muscular atrophy (SMA) undergoing nusinersen treatment.Methods Neurofilament light chain(NfL) levels were measured from plasma(pNfL) and cerebrospinal fluid (cNfL) of 40 children with later-onset SMA undergoing nusinersen treatment. A total of 480 CSF and plasma samples were taken during the first six doses of treatment from April 2021 to February 2023. Correlational analyses was used to determine the relationship