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@ARTICLE{Meyer:276085,
      author       = {Meyer, Thomas and Schumann, Peggy and Grehl, Torsten and
                      Weyen, Ute and Petri, Susanne and Rödiger, Annekathrin and
                      Steinbach, Robert and Grosskreutz, Julian and Bernsen, Sarah
                      and Weydt, Patrick and Wolf, Joachim and Günther, René and
                      Vidovic, Maximilian and Baum, Petra and Metelmann, Moritz
                      and Weishaupt, Jochen H and Streubel, Berthold and Kasper,
                      David C and Koc, Yasemin and Kettemann, Dagmar and Norden,
                      Jenny and Schmitt, Philipp and Walter, Bertram and Münch,
                      Christoph and Spittel, Susanne and Maier, André and
                      Körtvelyessy, Peter},
      title        = {{SOD}1 gene screening in {ALS} - frequency of mutations,
                      patients' attitudes to genetic information and transition to
                      tofersen treatment in a multi-center program.},
      journal      = {Amyotrophic lateral sclerosis $\&$ frontotemporal
                      degeneration},
      volume       = {26},
      number       = {1-2},
      issn         = {2167-8421},
      address      = {Abingdon},
      publisher    = {Taylor Francis Group},
      reportid     = {DZNE-2025-00166},
      pages        = {162 - 171},
      year         = {2025},
      abstract     = {To report the frequency of pathogenic SOD1 gene variants in
                      a screening program in amyotrophic lateral sclerosis (ALS),
                      and the clinical practice of transition to an expanded
                      access program (EAP) of tofersen treatment.From October 2021
                      to February 2024, at 11 ALS centers in Germany genetic
                      testing for SOD1, FUS, TARDBP, and C9orf72 was performed.
                      Patients were offered to opt for notification either about
                      all genetic variants or SOD1 variants relevant for tofersen
                      therapy. The transition to the EAP with tofersen was
                      assessed.1935 patients were screened $(94.7\%$ sporadic
                      ALS). $48.8\%$ (n = 928) opted for notification of
                      treatment-relevant information. Genetic variants were found
                      as follows: SOD1 (likely) pathogenic variants (class 4/5)
                      $1.8\%$ (n = 34), variants of unknown significance (class 3)
                      $0.8\%$ (n = 16), FUS (class 4/5) $0.9\%$ (n = 17), TARDBP
                      (class 4/5) $1.3\%$ (n = 25), C9orf72 hexanucleotide repeat
                      expansion $7.0\%$ (n = 135). In SOD1-ALS (encompassing class
                      3-5 variants, n = 50), $68.0\%$ (n = 34) reported a negative
                      family history. $74.0\%$ (n = 37) of SOD1-ALS patients -
                      which represent $1.9\%$ of all participants of the screening
                      program - were transitioned to tofersen. Median duration
                      from start of genetic testing to treatment was 94 days (57
                      to 295 days). Eight patients declined treatment whereas five
                      individuals died before initiation of therapy.The finding of
                      SOD1 variants in patients with a negative family history
                      underscores the need for a broad genetic screening in ALS.
                      In SOD1-ALS, the treatment option with tofersen was mostly
                      utilized. The wide range in the transition time to tofersen
                      calls for a SOD1-ALS management program.},
      keywords     = {Humans / Amyotrophic Lateral Sclerosis: genetics /
                      Amyotrophic Lateral Sclerosis: drug therapy / Amyotrophic
                      Lateral Sclerosis: diagnosis / Superoxide Dismutase-1:
                      genetics / Male / Female / Genetic Testing: methods / Middle
                      Aged / Mutation: genetics / Aged / Adult / C9orf72 Protein:
                      genetics / Germany / RNA-Binding Protein FUS: genetics /
                      DNA-Binding Proteins / Amyotrophic lateral sclerosis (Other)
                      / SOD1 gene (Other) / screening (Other) / tofersen (Other) /
                      transition (Other) / Superoxide Dismutase-1 (NLM Chemicals)
                      / SOD1 protein, human (NLM Chemicals) / C9orf72 Protein (NLM
                      Chemicals) / TARDBP protein, human (NLM Chemicals) / C9orf72
                      protein, human (NLM Chemicals) / RNA-Binding Protein FUS
                      (NLM Chemicals) / FUS protein, human (NLM Chemicals) /
                      DNA-Binding Proteins (NLM Chemicals)},
      cin          = {Clinical Research (Bonn) / AG Falkenburger},
      ddc          = {610},
      cid          = {I:(DE-2719)1011001 / I:(DE-2719)1710012},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39268612},
      doi          = {10.1080/21678421.2024.2401131},
      url          = {https://pub.dzne.de/record/276085},
}