%0 Journal Article
%A Meyer, Thomas
%A Schumann, Peggy
%A Weydt, Patrick
%A Petri, Susanne
%A Koc, Yasemin
%A Spittel, Susanne
%A Bernsen, Sarah
%A Günther, René
%A Weishaupt, Jochen H
%A Dreger, Marie
%A Kolzarek, Felix
%A Kettemann, Dagmar
%A Norden, Jenny
%A Boentert, Matthias
%A Vidovic, Maximilian
%A Meisel, Christian
%A Münch, Christoph
%A Maier, André
%A Körtvélyessy, Péter
%T Neurofilament light-chain response during therapy with antisense oligonucleotide tofersen in SOD1-related ALS: Treatment experience in clinical practice.
%J Muscle & nerve
%V 67
%N 6
%@ 0148-639X
%C New York, NY [u.a.]
%I Wiley
%M DZNE-2023-00466
%P 515 - 521
%D 2023
%X 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 <0.9), whereas one patient demonstrated rapidly progressing ALS (ALS-PR = 2.66). Mean treatment duration was 6.5 (range 5 to 8) months. In all patients, NfL decreased (mean CSF-NfL: -66
%K Humans
%K Amyotrophic Lateral Sclerosis: drug therapy
%K Amyotrophic Lateral Sclerosis: genetics
%K Oligonucleotides, Antisense: therapeutic use
%K Superoxide Dismutase-1: genetics
%K Intermediate Filaments
%K Biomarkers
%K Neurofilament Proteins
%K tofersen (NLM Chemicals)
%K amyotrophic lateral sclerosis (Other)
%K neurofilament light chain (Other)
%K tofersen (Other)
%K Oligonucleotides, Antisense (NLM Chemicals)
%K Superoxide Dismutase-1 (NLM Chemicals)
%K Biomarkers (NLM Chemicals)
%K Neurofilament Proteins (NLM Chemicals)
%K SOD1 protein, human (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:36928619
%R 10.1002/mus.27818
%U https://pub.dzne.de/record/257590