Neurofilament light chain and profilin-1 dynamics in 30 spinal muscular atrophy type 3 patients treated with nusinersen.

ABSTRACT:

Background and purpose

The aim was to investigate whether neurofilament light chain (NfL) and profilin-1 (PFN-1) might qualify as surrogate disease and treatment-response biomarkers by correlating their concentrations dynamic with clinical status in a cohort of 30 adult spinal muscular atrophy type 3 patients during nusinersen therapy up to 34 months.

Methods

Neurofilament light chain was measured in cerebrospinal fluid at each drug administration with a commercial enzyme-linked immunosorbent assay (ELISA); PFN-1 concentrations were tested in serum sampled at the same time points with commercial ELISA assays. Functional motor scores were evaluated at baseline, at the end of the loading phase and at each maintenance dose and correlated to biomarker levels. The concurrent effe

SUBMITTER: Musso G 

PROVIDER: S-EPMC11414805 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature