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@ARTICLE{Meyer:271333,
      author       = {Meyer, Thomas and Schumann, Peggy and Weydt, Patrick and
                      Petri, Susanne and Weishaupt, Jochen H and Weyen, Ute and
                      Koch, Jan C and Günther, René and Regensburger, Martin and
                      Boentert, Matthias and Wiesenfarth, Maximilian and Koc,
                      Yasemin and Kolzarek, Felix and Kettemann, Dagmar and
                      Norden, Jenny and Bernsen, Sarah and Elmas, Zeynep and
                      Conrad, Julian and Valkadinov, Ivan and Vidovic, Maximilian
                      and Dorst, Johannes and Ludolph, Albert C and
                      Hesebeck-Brinckmann, Jasper and Spittel, Susanne and Münch,
                      Christoph and Maier, André and Körtvelyessy, Peter},
      title        = {{C}linical and patient-reported outcomes and neurofilament
                      response during tofersen treatment in {SOD}1-related
                      {ALS}-{A} multicenter observational study over 18 months.},
      journal      = {Muscle $\&$ nerve},
      volume       = {70},
      number       = {3},
      issn         = {0148-639X},
      address      = {New York, NY [u.a.]},
      publisher    = {Wiley},
      reportid     = {DZNE-2024-01035},
      pages        = {333 - 345},
      year         = {2024},
      abstract     = {In amyotrophic lateral sclerosis (ALS) caused by SOD1
                      mutations (SOD1-ALS), tofersen received accelerated approval
                      in the United States and is available via expanded access
                      programs (EAP) outside the United States. This multicenter
                      study investigates clinical and patient-reported outcomes
                      (PRO) and serum neurofilament light chain (sNfL) during
                      tofersen treatment in an EAP in Germany.Sixteen SOD1-ALS
                      patients receiving tofersen for at least 6 months were
                      analyzed. The ALS progression rate (ALS-PR), as measured by
                      the monthly change of the ALS functional rating
                      scale-revised (ALSFRS-R), slow vital capacity (SVC), and
                      sNfL were investigated. PRO included the Measure Yourself
                      Medical Outcome Profile (MYMOP2), Treatment Satisfaction
                      Questionnaire for Medication (TSQM-9), and Net Promoter
                      Score (NPS).Mean tofersen treatment was 11 months (6-18
                      months). ALS-PR showed a mean change of -0.2 (range 0 to
                      -1.1) and relative reduction by $25\%.$ Seven patients
                      demonstrated increased ALSFRS-R. SVC was stable (mean
                      $88\%,$ range $-15\%$ to $+28\%).$ sNfL decreased in all
                      patients except one heterozygous D91A-SOD1 mutation carrier
                      (mean change of sNfL $-58\%,$ range -91 to $+27\%,$ p <
                      .01). MYMOP2 indicated improved symptom severity (n = 10) or
                      yet perception of partial response (n = 6). TSQM-9 showed
                      high global treatment satisfaction (mean 83, SD 16) although
                      the convenience of drug administration was modest (mean 50,
                      SD 27). NPS revealed a very high recommendation rate for
                      tofersen (NPS +80).Data from this EAP supported the clinical
                      and sNfL response to tofersen in SOD1-ALS. PRO suggested a
                      favorable patient perception of tofersen treatment in
                      clinical practice.},
      keywords     = {Humans / Amyotrophic Lateral Sclerosis: drug therapy /
                      Amyotrophic Lateral Sclerosis: genetics / Male / Female /
                      Patient Reported Outcome Measures / Middle Aged / Aged /
                      Superoxide Dismutase-1: genetics / Neurofilament Proteins:
                      blood / Treatment Outcome / Disease Progression / Adult /
                      Oligonucleotides: therapeutic use / amyotrophic lateral
                      sclerosis (ALS) (Other) / clinical course (Other) /
                      neurofilament light chain (NfL) (Other) / patient‐reported
                      outcomes (Other) / tofersen (Other) / Superoxide Dismutase-1
                      (NLM Chemicals) / Neurofilament Proteins (NLM Chemicals) /
                      SOD1 protein, human (NLM Chemicals) / neurofilament protein
                      L (NLM Chemicals) / Oligonucleotides (NLM Chemicals)},
      cin          = {Clinical Research (Bonn) / AG Falkenburger / Clinical Study
                      Center (Ulm)},
      ddc          = {610},
      cid          = {I:(DE-2719)1011001 / I:(DE-2719)1710012 /
                      I:(DE-2719)5000077},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39031772},
      doi          = {10.1002/mus.28182},
      url          = {https://pub.dzne.de/record/271333},
}