Rethinking antisense oligonucleotide therapeutics for amyotrophic lateral sclerosis

Abstract Antisense oligonucleotides, which are used to silence target genes, are gaining attention as a novel drug discovery modality for proteinopathies. However, while clinical trials for neurodegenerative diseases like amyotrophic lateral sclerosis have been conducted in recent years, the results...

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Main Authors: Daisuke Ito, Kensuke Okada
Format: Article
Language:English
Published: Wiley 2024-12-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.52234
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author Daisuke Ito
Kensuke Okada
author_facet Daisuke Ito
Kensuke Okada
author_sort Daisuke Ito
collection DOAJ
description Abstract Antisense oligonucleotides, which are used to silence target genes, are gaining attention as a novel drug discovery modality for proteinopathies. However, while clinical trials for neurodegenerative diseases like amyotrophic lateral sclerosis have been conducted in recent years, the results have not always been favorable. The results from a Phase III trial of the antisense oligonucleotide, that is, tofersen, which targets SOD1 mRNA, showed decreased levels of cerebrospinal fluid SOD1 and plasma neurofilament light chain but no improvements in primary clinical endpoint. Moreover, case reports pertaining to patients with amyotrophic lateral sclerosis carrying FUS and C9orf72 mutations who received antisense oligonucleotide‐based treatments have demonstrated a notable reduction in the targeted protein (thus providing the proof of mechanism) but with no discernible clinical benefits. There are several possible reasons why antisense oligonucleotides knockdown fails to achieve proof of concept, which need to be addressed: on‐target adverse effects resulting from the loss of function of target gene and irreversible neuronal death cascade due to toxic protein accumulation, among other factors. This review provides an overview of the current status and discusses the prospects of antisense oligonucleotides treatment for amyotrophic lateral sclerosis.
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spelling doaj-art-fa2677ed35a846d1885a8fe818c71dc72024-12-17T16:12:21ZengWileyAnnals of Clinical and Translational Neurology2328-95032024-12-0111123054306310.1002/acn3.52234Rethinking antisense oligonucleotide therapeutics for amyotrophic lateral sclerosisDaisuke Ito0Kensuke Okada1Memory Center Keio University School of Medicine Tokyo JapanDepartment of Neurology Keio University School of Medicine Tokyo JapanAbstract Antisense oligonucleotides, which are used to silence target genes, are gaining attention as a novel drug discovery modality for proteinopathies. However, while clinical trials for neurodegenerative diseases like amyotrophic lateral sclerosis have been conducted in recent years, the results have not always been favorable. The results from a Phase III trial of the antisense oligonucleotide, that is, tofersen, which targets SOD1 mRNA, showed decreased levels of cerebrospinal fluid SOD1 and plasma neurofilament light chain but no improvements in primary clinical endpoint. Moreover, case reports pertaining to patients with amyotrophic lateral sclerosis carrying FUS and C9orf72 mutations who received antisense oligonucleotide‐based treatments have demonstrated a notable reduction in the targeted protein (thus providing the proof of mechanism) but with no discernible clinical benefits. There are several possible reasons why antisense oligonucleotides knockdown fails to achieve proof of concept, which need to be addressed: on‐target adverse effects resulting from the loss of function of target gene and irreversible neuronal death cascade due to toxic protein accumulation, among other factors. This review provides an overview of the current status and discusses the prospects of antisense oligonucleotides treatment for amyotrophic lateral sclerosis.https://doi.org/10.1002/acn3.52234
spellingShingle Daisuke Ito
Kensuke Okada
Rethinking antisense oligonucleotide therapeutics for amyotrophic lateral sclerosis
Annals of Clinical and Translational Neurology
title Rethinking antisense oligonucleotide therapeutics for amyotrophic lateral sclerosis
title_full Rethinking antisense oligonucleotide therapeutics for amyotrophic lateral sclerosis
title_fullStr Rethinking antisense oligonucleotide therapeutics for amyotrophic lateral sclerosis
title_full_unstemmed Rethinking antisense oligonucleotide therapeutics for amyotrophic lateral sclerosis
title_short Rethinking antisense oligonucleotide therapeutics for amyotrophic lateral sclerosis
title_sort rethinking antisense oligonucleotide therapeutics for amyotrophic lateral sclerosis
url https://doi.org/10.1002/acn3.52234
work_keys_str_mv AT daisukeito rethinkingantisenseoligonucleotidetherapeuticsforamyotrophiclateralsclerosis
AT kensukeokada rethinkingantisenseoligonucleotidetherapeuticsforamyotrophiclateralsclerosis