Neurofilament light-chain response during therapy with antisense oligonucleotide tofersen in SOD1-related ALS: Treatment experience in clinical practice
| Autor: | Thomas Meyer, Peggy Schumann, Patrick Weydt, Susanne Petri, Yasemin Koc, Susanne Spittel, Sarah Bernsen, René Günther, Jochen H. Weishaupt, Marie Dreger, Felix Kolzarek, Dagmar Kettemann, Jenny Norden, Matthias Boentert, Maximilian Vidovic, Christian Meisel, Christoph Münch, André Maier, Péter Körtvélyessy |
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| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: |
amyotrophic lateral sclerosis
drug therapy [Amyotrophic Lateral Sclerosis] Physiology therapeutic use [Oligonucleotides Antisense] Intermediate Filaments tofersen genetics [Superoxide Dismutase-1] Cellular and Molecular Neuroscience genetics [Amyotrophic Lateral Sclerosis] neurofilament light chain Neurofilament Proteins Physiology (medical) Humans Neurology (clinical) ddc:610 Biomarkers |
| Zdroj: | Muscle & nerve 67(6), 515-521 (2023). doi:10.1002/mus.27818 |
| DOI: | 10.1002/mus.27818 |
| Popis: | In amyotrophic lateral sclerosis (ALS) caused by superoxide dismutase 1 (SOD1) gene mutations (SOD1-ALS), the antisense oligonucleotide tofersen had been investigated in a phase III study (VALOR) and subsequently introduced in an expanded access program. In this study we assess neurofilament light chain (NfL) before and during tofersen treatment.In six SOD1-ALS patients treated with tofersen at three specialized ALS centers in Germany, NfL in cerebrospinal fluid (CSF-NfL) and/or serum (sNfL) were investigated using the ALS Functional Rating Scale Revised (ALSFRS-R) and ALS progression rate (ALS-PR), defined by monthly decline of ALSFRS-R.Three of the six SOD1-ALS patients reported a negative family history. Three patients harbored a homozygous c.272A > C, p.(Asp91Ala) mutation. These and two other patients showed slower progressing ALS (defined by ALS-PR |
| Databáze: | OpenAIRE |
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