Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases.

Content Provider	Europe PMC
Author	Aoki, Yoshitsugu Wood, Matthew J.A.
Copyright Year	2021
Abstract	Research and drug development concerning rare diseases are at the cutting edge of scientific technology. To date, over 7,000 rare diseases have been identified. Despite their individual rarity, 1 in 10 individuals worldwide is affected by a rare condition. For the majority of these diseases, there is no treatment, much less cure; therefore, there is an urgent need for new therapies to extend and improve quality of life for persons who suffer from them. Here we focus specifically on rare neuromuscular diseases. Currently, genetic medicines using short antisense oligonucleotides (ASO) or small interfering ribonucleic acids that target RNA transcripts are achieving spectacular success in treating these diseases. For Duchenne muscular dystrophy (DMD), the state-of-the-art is an exon skipping therapy using an antisense oligonucleotide, which is prototypical of advanced precision medicines. Very recently, golodirsen and viltolarsen, for treatment of DMD patients amenable to skipping exon 53, have been approved by regulatory agencies in the USA and Japan, respectively. Here, we review scientific and clinical progress in developing new oligonucleotide therapeutics for selected rare neuromuscular diseases, discussing their efficacy and limitations.
Related Links	https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC8673547&blobtype=pdf
ISSN	22143599
Journal	Journal of Neuromuscular Diseases [J Neuromuscul Dis]
Volume Number	8
PubMed Central reference number	PMC8673547
Issue Number	6
PubMed reference number	34092651
e-ISSN	22143602
DOI	10.3233/jnd-200560
Language	English
Publisher	IOS Press
Publisher Date	2021-01-01
Publisher Place	Nieuwe Hemweg 6B, 1013 BG Amsterdam, The Netherlands
Access Restriction	Open
Rights License	This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. © 2021 – The authors. Published by IOS Press
Subject Keyword	Rare disease ultra-rare disease neuromuscular disease duchenne muscular dystrophy antisense oligonucleotides ASO orphan drug RNase H1-dependent steric-blocking splice switching siRNA genetic medicine and precision medicine
Content Type	Text
Resource Type	Article
Subject	Neurology Neurology (clinical)