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Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients
- Source :
- Journal of Cellular and Molecular Medicine
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- The antisense oligonucleotide Nusinersen has been recently licensed to treat spinal muscular atrophy (SMA). Since SMA type 3 is characterized by variable phenotype and milder progression, biomarkers of early treatment response are urgently needed. We investigated the cerebrospinal fluid (CSF) concentration of neurofilaments in SMA type 3 patients treated with Nusinersen as a potential biomarker of treatment efficacy. The concentration of phosphorylated neurofilaments heavy chain (pNfH) and light chain (NfL) in the CSF of SMA type 3 patients was evaluated before and after six months since the first Nusinersen administration, performed with commercially available enzyme‐linked immunosorbent assay (ELISA) kits. Clinical evaluation of SMA patients was performed with standardized motor function scales. Baseline neurofilament levels in patients were comparable to controls, but significantly decreased after six months of treatment, while motor functions were only marginally ameliorated. No significant correlation was observed between the change in motor functions and that of neurofilaments over time. The reduction of neurofilament levels suggests a possible early biochemical effect of treatment on axonal degeneration, which may precede changes in motor performance. Our study mandates further investigations to assess neurofilaments as a marker of treatment response.
- Subjects :
- Adult
Male
0301 basic medicine
Pathology
medicine.medical_specialty
Neurofilament
Adolescent
Psychosomatic disorder
Intermediate Filaments
Oligonucleotides
Spinal Muscular Atrophies of Childhood
Immunoglobulin light chain
neurofilaments
03 medical and health sciences
0302 clinical medicine
Cerebrospinal fluid
Neurofilament Proteins
Nusinersen
Humans
Medicine
Age of Onset
Aged
spinal muscular atrophy
business.industry
pharmacodynamics biomarker
Original Articles
Cell Biology
Spinal muscular atrophy
Middle Aged
Oligonucleotides, Antisense
SMA
medicine.disease
Treatment Outcome
030104 developmental biology
Child, Preschool
030220 oncology & carcinogenesis
Spinal Muscular Atrophy Type 3
Molecular Medicine
Original Article
Female
business
Biomarkers
Subjects
Details
- ISSN :
- 15824934 and 15821838
- Volume :
- 24
- Database :
- OpenAIRE
- Journal :
- Journal of Cellular and Molecular Medicine
- Accession number :
- edsair.doi.dedup.....5bbe3e1e4a6b1ea6ede8cd21c114dd7a