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@ARTICLE{Meyer:257590,
      author       = {Meyer, Thomas and Schumann, Peggy and Weydt, Patrick and
                      Petri, Susanne and Koc, Yasemin and Spittel, Susanne and
                      Bernsen, Sarah and Günther, René and Weishaupt, Jochen H
                      and Dreger, Marie and Kolzarek, Felix and Kettemann, Dagmar
                      and Norden, Jenny and Boentert, Matthias and Vidovic,
                      Maximilian and Meisel, Christian and Münch, Christoph and
                      Maier, André and Körtvélyessy, Péter},
      title        = {{N}eurofilament light-chain response during therapy with
                      antisense oligonucleotide tofersen in {SOD}1-related {ALS}:
                      {T}reatment experience in clinical practice.},
      journal      = {Muscle $\&$ nerve},
      volume       = {67},
      number       = {6},
      issn         = {0148-639X},
      address      = {New York, NY [u.a.]},
      publisher    = {Wiley},
      reportid     = {DZNE-2023-00466},
      pages        = {515 - 521},
      year         = {2023},
      abstract     = {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: $-66\%,$ range $-52\%$ to $-86\%;$ mean sNfL:
                      $-62\%,$ range $-36\%$ to $-84\%).$ sNfL after 5 months of
                      tofersen treatment was significantly reduced compared with
                      the nearest pretreatment measurement (P = .017). ALS-PR
                      decreased in two patients, whereas no changes in ALSFRS-R
                      were observed in four participants who had very low ALS-PR
                      or ALSFRS-R values before treatment.In this case series, the
                      significant NfL decline after tofersen treatment confirmed
                      its value as response biomarker in an expanded clinical
                      spectrum of SOD1-ALS. Given the previously reported strong
                      correlation between sNfL and ALS progression, the NfL
                      treatment response supports the notion of tofersen having
                      disease-modifying activity.},
      keywords     = {Humans / Amyotrophic Lateral Sclerosis: drug therapy /
                      Amyotrophic Lateral Sclerosis: genetics / Oligonucleotides,
                      Antisense: therapeutic use / Superoxide Dismutase-1:
                      genetics / Intermediate Filaments / Biomarkers /
                      Neurofilament Proteins / tofersen (NLM Chemicals) /
                      amyotrophic lateral sclerosis (Other) / neurofilament light
                      chain (Other) / tofersen (Other) / Oligonucleotides,
                      Antisense (NLM Chemicals) / Superoxide Dismutase-1 (NLM
                      Chemicals) / Biomarkers (NLM Chemicals) / Neurofilament
                      Proteins (NLM Chemicals) / SOD1 protein, human (NLM
                      Chemicals)},
      cin          = {AG Klockgether / Clinical Study Team Dresden ; AG
                      Falkenburger / AG Düzel 3},
      ddc          = {610},
      cid          = {I:(DE-2719)1011001 / I:(DE-2719)1710012 /
                      I:(DE-2719)5000006},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36928619},
      doi          = {10.1002/mus.27818},
      url          = {https://pub.dzne.de/record/257590},
}