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Neurofilament light chain and profilin-1 dynamics in 30 spinal muscular atrophy type 3 patients treated with nusinersen.
Musso, G; Bello, L; Capece, G; Bozzoni, V; Caumo, L; Sabbatini, D; Zangaro, V; Sogus, E; Cosma, C; Petrosino, A; Sorarù, G; Plebani, M; Pegoraro, E.
Afiliação
  • Musso G; Department of Medicine, University of Padova, Padova, Italy.
  • Bello L; Laboratory Medicine, University-Hospital of Padova, Padova, Italy.
  • Capece G; Department of Neurosciences, University of Padova, Padova, Italy.
  • Bozzoni V; Department of Neurosciences, University of Padova, Padova, Italy.
  • Caumo L; Department of Neurosciences, University of Padova, Padova, Italy.
  • Sabbatini D; Department of Neurosciences, University of Padova, Padova, Italy.
  • Zangaro V; Department of Neurosciences, University of Padova, Padova, Italy.
  • Sogus E; Unit of Biostatistics, Epidemiology and Public Health, Department of Cardiac, Thoracic, Vascular Sciences, and Public Health, University of Padova, Padova, Italy.
  • Cosma C; Department of Neurosciences, University of Padova, Padova, Italy.
  • Petrosino A; Department of Neurosciences, University of Padova, Padova, Italy.
  • Sorarù G; Laboratory Medicine, University-Hospital of Padova, Padova, Italy.
  • Plebani M; Department of Neurosciences, University of Padova, Padova, Italy.
  • Pegoraro E; Department of Neurosciences, University of Padova, Padova, Italy.
Eur J Neurol ; 31(10): e16393, 2024 Oct.
Article em En | MEDLINE | ID: mdl-38924263
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 effect of age and clinical phenotype was studied.

RESULTS:

Neurofilament light chain levels were included in the reference ranges at baseline; a significant increase was measured during loading phase until 1 month. PFN-1 was higher at baseline than in controls and then decreased during therapy until reaching control levels. Age had an effect on NfL but not on PFN-1. NfL was partially correlated to functional scores at baseline and at last time point, whilst no correlation was found for PFN-1.

CONCLUSION:

Cerebrospinal fluid NfL levels did not qualify as an optimal surrogate treatment biomarker in adult spinal muscular atrophy patients with a long disease duration, whilst PFN-1 might to a greater extent represent lower motor neuron pathological processes. The observed biomarker level variation during the first 2 months of nusinersen treatment might suggest a limited effect on axonal remodeling or rearrangement.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oligonucleotídeos / Atrofias Musculares Espinais da Infância / Proteínas de Neurofilamentos / Profilinas Limite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oligonucleotídeos / Atrofias Musculares Espinais da Infância / Proteínas de Neurofilamentos / Profilinas Limite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2024 Tipo de documento: Article