Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients
- 03-06-2024
- Amyotrophic Lateral Sclerosis
- Original Communication
Published in:
- Authors
- Mario Sabatelli
- Federica Cerri
- Riccardo Zuccarino
- Agata Katia Patanella
- Daniela Bernardo
- Giulia Bisogni
- Raffaella Tanel
- Valeria Sansone
- Massimiliano Filosto
- Serena Lattante
- Francesco Martello
- Paolo Niccolò Doronzio
- Salvatore Stano
- Bruno Antonio Zanfini
- Michela Coccia
- Emanuele Maria Costantini
- Andrea Lizio
- Gabriele Lucioli
- Alessandro Padovani
- Gian Paolo Merlini
- Amelia Conte
- Published in
- Journal of Neurology | Issue 8/2024
Abstract
Background
In Amyotrophic Lateral Sclerosis (ALS) patients with SOD1 mutation the intrathecal administration of tofersen slowed down the progression of disease in a controlled clinical study, but results were not statistically significant.
Methods
In this multicentre, observational study, we evaluated a cohort of 27 ALS-SOD1 patients who were treated with tofersen, focussing on 17 patients who were followed for at least 48 weeks (median period of 84 weeks, range 48–108). We compared the clinical slopes, as measured by ALSFRS-R, MRC scale and Forced Vital Capacity, during tofersen treatment with retrospective data at 1 year prior to therapy. Cerebrospinal fluid (CSF) and serum neurofilament light chains (NFL) were measured in all patients.
Results
Cumulative evaluation of the ALSFRS-R and MRC progression rates showed a statistically significant change during treatment with respect to the period prior to therapy (p = 0.023 and p = 0.007, respectively). The analysis of individual patients showed that nine of the seventeen patients substantially stabilized or slightly improved. Four patients deteriorated during treatment, while in the remaining patients the very slow course did not allow to identify significant changes. CSF and serum NFL concentration markedly decreased in the near totality of patients.
Increased levels of white blood cells and proteins in the CSF were found in 60% of patients. Such alterations were clinically asymptomatic in all but two patients who showed an acute pure motor radiculitis, which responded to steroid therapy.
Conclusions
Clinical findings and NFL analysis strongly suggest that tofersen may have a disease-modifying effect in a subset of SOD1-ALS patients.
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- Title
- Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients
- Authors
-
Mario Sabatelli
Federica Cerri
Riccardo Zuccarino
Agata Katia Patanella
Daniela Bernardo
Giulia Bisogni
Raffaella Tanel
Valeria Sansone
Massimiliano Filosto
Serena Lattante
Francesco Martello
Paolo Niccolò Doronzio
Salvatore Stano
Bruno Antonio Zanfini
Michela Coccia
Emanuele Maria Costantini
Andrea Lizio
Gabriele Lucioli
Alessandro Padovani
Gian Paolo Merlini
Amelia Conte
- Publication date
- 03-06-2024
- Publisher
- Springer Berlin Heidelberg
- Keyword
- Amyotrophic Lateral Sclerosis
- Published in
-
Journal of Neurology / Issue 8/2024
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459 - DOI
- https://doi.org/10.1007/s00415-024-12437-7
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