%0 Journal Article %A Meyer, Thomas %A Schumann, Peggy %A Weydt, Patrick %A Petri, Susanne %A Weishaupt, Jochen H %A Weyen, Ute %A Koch, Jan C %A Günther, René %A Regensburger, Martin %A Boentert, Matthias %A Wiesenfarth, Maximilian %A Koc, Yasemin %A Kolzarek, Felix %A Kettemann, Dagmar %A Norden, Jenny %A Bernsen, Sarah %A Elmas, Zeynep %A Conrad, Julian %A Valkadinov, Ivan %A Vidovic, Maximilian %A Dorst, Johannes %A Ludolph, Albert C %A Hesebeck-Brinckmann, Jasper %A Spittel, Susanne %A Münch, Christoph %A Maier, André %A Körtvelyessy, Peter %T Clinical and patient-reported outcomes and neurofilament response during tofersen treatment in SOD1-related ALS-A multicenter observational study over 18 months. %J Muscle & nerve %V 70 %N 3 %@ 0148-639X %C New York, NY [u.a.] %I Wiley %M DZNE-2024-01035 %P 333 - 345 %D 2024 %X 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 %K Humans %K Amyotrophic Lateral Sclerosis: drug therapy %K Amyotrophic Lateral Sclerosis: genetics %K Male %K Female %K Patient Reported Outcome Measures %K Middle Aged %K Aged %K Superoxide Dismutase-1: genetics %K Neurofilament Proteins: blood %K Treatment Outcome %K Disease Progression %K Adult %K Oligonucleotides: therapeutic use %K amyotrophic lateral sclerosis (ALS) (Other) %K clinical course (Other) %K neurofilament light chain (NfL) (Other) %K patient‐reported outcomes (Other) %K tofersen (Other) %K Superoxide Dismutase-1 (NLM Chemicals) %K Neurofilament Proteins (NLM Chemicals) %K SOD1 protein, human (NLM Chemicals) %K neurofilament protein L (NLM Chemicals) %K Oligonucleotides (NLM Chemicals) %F PUB:(DE-HGF)16 %9 Journal Article %$ pmid:39031772 %R 10.1002/mus.28182 %U https://pub.dzne.de/record/271333