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Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS
Open accessAbstract
BACKGROUND: mutations. METHODS: mutations. In each dose cohort (20, 40, 60, or 100 mg), participants were randomly assigned in a 3:1 ratio to receive five doses of tofersen or placebo, administered intrathecally for 12 weeks. The primary outcomes were safety and pharmacokinetics. The secondary outcome was the change from baseline in the cerebrospinal fluid (CSF) SOD1 concentration at day 85. Clinical function and vital capacity were measured. RESULTS: A total of 50 participants underwent randomization and were included in the analyses; 48 participants received all five planned doses. Lumbar puncture-related adverse events were observed in most participants. Elevations in CSF white-cell count and protein were reported as adverse events in 4 and 5 participants, respectively, who received tofersen. Among participants who received tofersen, one died from pulmonary embolus on day 137, and one from respiratory failure on day 152; one participant in the placebo group died from respiratory failure on day 52. The difference at day 85 in the change from baseline in the CSF SOD1 concentration between the tofersen groups and the placebo group was 2 percentage points (95% confidence interval [CI], -18 to 27) for the 20-mg dose, -25 percentage points (95% CI, -40 to -5) for the 40-mg dose, -19 percentage points (95% CI, -35 to 2) for the 60-mg dose, and -33 percentage points (95% CI, -47 to -16) for the 100-mg dose. CONCLUSIONS: mutations, CSF SOD1 concentrations decreased at the highest concentration of tofersen administered intrathecally over a period of 12 weeks. CSF pleocytosis occurred in some participants receiving tofersen. Lumbar puncture-related adverse events were observed in most participants. (Funded by Biogen; ClinicalTrials.gov number, NCT02623699; EudraCT number, 2015-004098-33.).
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“ASO injection is a current standard of care for the fatal childhood disease spinal muscular atrophy15 and is in five ongoing Phase I trials in ALS, Parkinson’s, and Alzheimer’s diseases and in Phase III trials for inherited ALS from a mutation in superoxide dismutase16,17 and for Huntington’s disease18.”
From Therapeutically viable generation of neurons with antisense oligonucleotide suppression of PTB (2021) · cites this paper as [17]
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“Experience from Alzheimer’s disease (AD), spinal muscular atrophy (SMA),5 and amyotrophic lateral sclerosis (ALS)6 suggests treating FTD will be most successful if treatment is initiated early in the disease course, ideally prior to the onset of symptoms.”
From Temporal order of clinical and biomarker changes in familial frontotemporal dementia (2022) · cites this paper as [6]
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“In a recently completed phase 3 trial of tofersen administered intrathecally in symptomatic participants with SOD1 ALS (NCT02623699 and NCT03070119), the primary clinical endpoint was not met; however, there were reductions in total cerebrospinal fluid (CSF) SOD1 protein and plasma neurofilament light chain (NfL) [3,…”
BackgroundSelf-citationTofersen: Silver Lining or Hyperbole??
Chawla, T., & Goyal, V. (2023) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_734_23 · Cited by 4
“[8] There was a reduction of 3% SOD1 protein concentrations in the placebo group vs. 36% in the 100 mg dose group at day 85.”
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“On the therapeutic front, genetic modi fi ers have emerged as a focal point, with antisense oligonucleotides (ASOs) targeting SOD1 and C9orf72 mutations demonstrating promising results in both preclinical studies and early clinical trials (Miller et al., 2020; Miller T. M. et al., 2022).”
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“62,63 These studies have consistently demonstrated robust CNS distribution, ASO activity, and signi fi cant phenotypic prevention or reversal in these disease models.”
Major Advances in Amyotrophic Lateral Sclerosis in 2020
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“[30] For each dose cohort of 20, 40, 60, and 100 mg, patients were randomized in a 3:1 ratio to receive tofersen or placebo.”
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“Drugs currently approved for the treatment of ALS are either modestly effective (e.g. Riluzole) (Traynor et al., 2003; Wei et al., 2024) or only target a small subset of patients (e.g. Tofersen) (Miller et al., 2020).”
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“For instance, Tofersen (BIIB067) is an antisense oligonucleotide (ASO) under clinical investigation that has shown therapeutic benefit in the treatment of ALS by suppressing mutant SOD1 mRNA levels (7).”
BackgroundModulation of the miR-485-3p/PGC-1α Pathway by ASO-Loaded Nanoparticles Attenuates ALS Pathogenesis
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“Therefore, the clearance of SOD1 aggregates and reduction in neuroinflammation are considered critical strategies for prolonging survival and alleviating symptoms in ALS [10,43,44].”
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“The therapeutic efficacy of ASOs against various diseases, including amyotrophic lateral sclerosis, spinal muscular atrophy, and familial hypercholesterolemia, has been demonstrated [133–136].”
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“…evaluating intrathecally administered tofersen in ALS patients with SOD1 mutations (Clinical-Trials. govIdenti fi ers:NCT02623699andNCT03070119) 9,54 – 56 ,andongoing studies are investigating its potential in delaying ALS onset in presympto-matic adult SOD1 mutation carriers (ClinicalTrials.gov…”
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“…interfering RNAs (siRNAs), and recombinant adeno-associated virus (rAAV)-delivered short hairpin RNAs (shRNAs) or arti fi cial microRNAs (amiRs) 17 – 19, 23, 24 . rAAV vectors transfer genes into The SOD1 G93A mouse model recapitulates key clinical and pathological features of ALS, including…”
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“With tofersen, the first antisense oligonucleotide (ASO) therapy for ALS was introduced [4, 5].”
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“It has been demonstrated that it reduces SOD1 concentration in the CSF, and that was associated with some efficacy in reducing the rate of deterioration in the functional and respiratory outcomes [19].”
BackgroundNeurotrophic Therapy for ALS/MND
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Tryptophan residues in TDP-43 and SOD1 mediate the cross-seeding and toxicity of SOD1Preprint
Pokrishevsky, E., DuVal, M. G., McAlary, L., Louadi, S., Pozzi, S., Roman, A. Y., Plotkin, S. S., Dijkstra, A. A., Julien, J., Allison, W. T., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.07.27.224188 · Cited by 1
Metabolomic insights into neurodegenerative disease
Kiernan, M. C. (2020) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2020-324856 · Cited by 1
The future of ALS might move towards Genetic Therapy
Corcia, P., Couratier, P., & Vourc’h, P. (2021) · Revue Neurologique · doi:10.1016/j.neurol.2021.01.007 · Cited by 1
Implications of confirmed de novo pathogenic SOD1 mutations
Cooper‐Knock, J. (2021) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2021-327935 · Cited by 1
Wasielewska, J. M., Cabral-da-Silva, M. C., Pecoraro, M., Nguyen, T. H., Bella, V. L., Oikari, L. E., Ooi, L., & White, A. R. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.02.22.581567 · Cited by 1
“However, targeting cortical neurons provides challenges due to the presence of the blood-brain barrier (BBB), which markedly limits the penetration of ALS therapeutics into the central nervous system (CNS) (2,10–14).”
BackgroundStable isotope labeling kinetics of neurofilament light in vitro and in vivoPreprint
Leckey, C. A., Giovannucci, T. A., Coulton, J. B., He, Y., Sato, C., Ghoshal, N., Vignarajah, T., Jaunmuktane, Z., Barthélemy, N. R., Zetterberg, H., et al. (2025) · medRxiv · doi:10.1101/2025.01.10.24319636 · Cited by 1
Disease Modification in SOD1 ‐ ALS With Tofersen May Result in Serious CNS Inflammation
Scelsa, S. N., & MacGowan, D. J. L. (2025) · Muscle & Nerve · doi:10.1002/mus.28413 · Cited by 1
Gong, X., Xie, Y., Wang, W., & Xu, T. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.17.682996 · Cited by 1
“While the generality of its clinical effects requires further validation due to the current small sample size, 18 this milestone approval validates the therapeutic strategy for ALS.”
Antisense Therapy Lowers SOD1 in the ALS Spinal Cord in Safety Trial
Robinson, R. (2020) · Neurology Today · doi:10.1097/01.nt.0000696992.12249.53
ALS Public Policy in the United States
Brooks, B. R., & Kurent, J. E. (2020) · Springer eBooks · doi:10.1007/978-981-15-5840-5_22
Development of a molecular therapy for the SOD1 familial variant of ALS
Smith, R. A., Miller, T. M., Cleveland, D. W., & Bennett, F. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-816475-4.00006-9
Self-citationA copper chaperone-mimetic polytherapy for SOD1-associated amyotrophic lateral sclerosisPreprint
McAlary, L., Shephard, V. K., Wright, G. S. A., & Yerbury, J. J. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.02.22.432389
Neurologists Applaud Expanded Access Program for ALS Drug, but Await Details
Cajigal, S. (2021) · Neurology Today · doi:10.1097/01.nt.0000756432.26427.f9
Treatment and Management of Adult Motor Neuron Diseases
Rosow, L. K., & Lomen, C. E. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-71317-7.00012-3
Neurotrophic Therapy for ALS/MND
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Sakaeva, D., & Bulavina, I. (2021) · Journal of Modern Oncology · doi:10.26442/18151434.2021.4.201344
Catasús, N., Rosas, I., Bonache, S., Negro, A., Torres‐Martín, M., Plana‐Pla, A., Salvador, H., Serra, E., Blanco, I., & Castellanos, E. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.02.11.479859
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SOD1 Targeted as Treatment for Amyotrophic Lateral Sclerosis
(2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61250
Sensory involvement in amyotrophic lateral sclerosis
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Riva, N., & Quattrini, A. (2022) · European Journal of Neurology · doi:10.1111/ene.15586
“However, with the exception of genetic markers, which identify patients most likely to benefit from gene therapies [8], validated predictive biomarkers are still lacking in ALS.”
BackgroundThe role of TDP-43 protein in amyotrophic lateral sclerosis
Włodarczyk, P., Witczak, M., Gajewska, A., Chady, T., & Piotrowski, I. (2022) · Journal of Medical Science · doi:10.20883/medical.e710
Vemula, P., Schoch, K. M., & Miller, T. M. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.12.29.522258
Self-citationOutils thérapeutiques dans la sclérose latérale amyotrophique : enfin du nouveau !
Hesters, A., & Bruneteau, G. (2023) · Pratique Neurologique - FMC · doi:10.1016/j.praneu.2023.01.009
Whole-genome sequence of Macaca fascicularis: liver tissue
Seo, E.-H., Kim, J., Kim, D.-H., Oh, J., & Kim, S. (2023) · BMC Genomic Data · doi:10.1186/s12863-023-01114-9
Gasser, T. (2023) · Fortschritte der Neurologie · Psychiatrie · doi:10.1055/a-2002-5176
“In der Patientengruppe, welche die höchste Dosis er-hielt (100 mg/Injektion) konnte eine um 33 % reduzierte Liquor-konzentration des pathogenen SOD1-Proteins gemessen werden [14, 15].”
BackgroundGentherapien bei den Motoneuronerkrankungen ALS und SMA
Günther, R. (2023) · Fortschritte der Neurologie · Psychiatrie · doi:10.1055/a-2002-5215
IV. Gene Therapy for Amyotrophic Lateral Sclerosis
Urushitani, M. (2022) · Nihon Naika Gakkai Zasshi · doi:10.2169/naika.111.1527
(2023) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.1080/21678421.2023.2260196
“…of Translational Pharmacology (IFT), National Research Council; 6 Department of Biology, University of Rome Tor Vergata Background: ALS is characterized by an excessive energy expenditure mainly related to a catabolic switch to fatty acid oxidation (FAO) in adipose tissue and skeletal muscle (1,2).”
BackgroundBreaking the amyotrophic lateral sclerosis early diagnostic barrier: the promise of general markers
Lu, Y., He, L., Meng, H., Chen, S., & Zhou, Q. (2023) · Exploration of Neuroprotective Therapy · doi:10.37349/ent.2023.00065
Genetic Modulators in Amyotrophic Lateral Sclerosis
Babita, B., Gaur, S., Mavi, A. K., & Vardhan, H. (2024) · Springer eBooks · doi:10.1007/978-981-99-9404-5_10
Metadata
- Authors
- Miller, T., Cudkowicz, M., Shaw, P. J., Andersen, P. M., Atassi, N., Bucelli, R. C., Genge, A., Glass, J., Ladha, S., Ludolph, A. L., Maragakis, N. J., McDermott, C. J., Pestronk, A., Ravits, J., Salachas, F., Trudell, R., Van Damme, P., Zinman, L., Bennett, C. F., Lane, R., Sandrock, A., Runz, H., Graham, D., Houshyar, H., McCampbell, A., Nestorov, I., Chang, I., McNeill, M., Fanning, L., Fradette, S., & Ferguson, T. A.
- Affiliations
- From the Washington University School of Medicine, St. Louis (T.M., R.C.B., A.P.); the Healey Center for ALS, Massachusetts General Hospital, Harvard Medical School, Boston (M.C., N.A.), and Biogen, Cambridge (A.S., H.R., D.G., H.H., A.M., I.N., I.C., L.F., S.F., T.A.F.) — both in Massachusetts; the Sheffield Institute for Translational Neuroscience, University of Sheffield, and NIHR Sheffield Biomedical Research Centre and Clinical Research Facility, University of Sheffield and Sheffield Teaching...
- Harvard University (US)
- Montreal Neurological Institute and Hospital (CA)
- Barrow Neurological Institute (US)
- Biogen (United States) (US)
- ORCID
- Cudkowicz, Merit
- Shaw, Pamela J.
- Andersen, Peter M.
- Atassi, Nazem
- Bucelli, Robert C.
- Genge, Angela
- Glass, Jonathan
- Ladha, Shafeeq
- Maragakis, Nicholas J.
- McDermott, Christopher J.
- Pestronk, Alan
- Ravits, John
- Trudell, Randall
- Zinman, Lorne
- Bennett, C. Frank
- Lane, Roger
- Runz, Heiko
- Graham, Danielle
- McCampbell, Alexander
- Nestorov, Ivan
- Chang, Ih
- Fradette, Stephanie
- Ferguson, Toby A.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2020-07-09
- Volume
- 383
- Issue
- 2
- Pages
- 109-119
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W3040840440
- Cited by
- 565
- References
- 27
- Citations by year
- 2026: 64 · 2025: 73 · 2024: 87 · 2023: 90 · 2022: 130 · 2021: 83 · 2020: 36
- FWCI
- 36.67
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- Digital Commons@Becker (Washington University School of Medicine) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Lirias (KU Leuven) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion, cc-by)
- Funders
- National Institute for Health and Care Research (NF-SI-0617-10077)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
- Keywords
- tofersen, antisense oligonucleotides, amyotrophic lateral sclerosis, SOD1, intrathecal administration, pleocytosis, dose escalation
- MeSH terms
- Superoxide Dismutase-1, Adult, Amyotrophic Lateral Sclerosis, Dose-Response Relationship, Drug, Double-Blind Method, Female, Headache, Humans, Injections, Spinal, Intermediate Filaments, Leukocytosis, Male, Middle Aged, Mutation, Oligonucleotides, Vital Capacity, Oligonucleotides, Antisense, Disease Progression
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