TY  - JOUR
AU  - Meyer, Thomas
AU  - Schumann, Peggy
AU  - Weydt, Patrick
AU  - Petri, Susanne
AU  - Koc, Yasemin
AU  - Spittel, Susanne
AU  - Bernsen, Sarah
AU  - Günther, René
AU  - Weishaupt, Jochen H
AU  - Dreger, Marie
AU  - Kolzarek, Felix
AU  - Kettemann, Dagmar
AU  - Norden, Jenny
AU  - Boentert, Matthias
AU  - Vidovic, Maximilian
AU  - Meisel, Christian
AU  - Münch, Christoph
AU  - Maier, André
AU  - Körtvélyessy, Péter
TI  - Neurofilament light-chain response during therapy with antisense oligonucleotide tofersen in SOD1-related ALS: Treatment experience in clinical practice.
JO  - Muscle & nerve
VL  - 67
IS  - 6
SN  - 0148-639X
CY  - New York, NY [u.a.]
PB  - Wiley
M1  - DZNE-2023-00466
SP  - 515 - 521
PY  - 2023
AB  - 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
KW  - Humans
KW  - Amyotrophic Lateral Sclerosis: drug therapy
KW  - Amyotrophic Lateral Sclerosis: genetics
KW  - Oligonucleotides, Antisense: therapeutic use
KW  - Superoxide Dismutase-1: genetics
KW  - Intermediate Filaments
KW  - Biomarkers
KW  - Neurofilament Proteins
KW  - tofersen (NLM Chemicals)
KW  - amyotrophic lateral sclerosis (Other)
KW  - neurofilament light chain (Other)
KW  - tofersen (Other)
KW  - Oligonucleotides, Antisense (NLM Chemicals)
KW  - Superoxide Dismutase-1 (NLM Chemicals)
KW  - Biomarkers (NLM Chemicals)
KW  - Neurofilament Proteins (NLM Chemicals)
KW  - SOD1 protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:36928619
DO  - DOI:10.1002/mus.27818
UR  - https://pub.dzne.de/record/257590
ER  -