Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases

被引:28
作者
Aoki, Yoshitsugu [1 ]
Wood, Matthew J. A. [2 ,3 ]
机构
[1] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mol Therapy, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, Japan
[2] Univ Oxford, Dept Paediat, Oxford, England
[3] Univ Oxford, John Radcliffe Hosp, Oxford Harrington Rare Dis Ctr, Oxford, England
关键词
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; DUCHENNE MUSCULAR-DYSTROPHY; ANTISENSE OLIGONUCLEOTIDE; EXON; EXPRESSION; GENE; RNAI; MUTATION; INTERFERENCE; GOLODIRSEN; BODYWIDE;
D O I
10.3233/JND-200560
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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 reviewscientific and clinical progress in developing newoligonucleotide therapeutics for selected rare neuromuscular diseases, discussing their efficacy and limitations.
引用
收藏
页码:869 / 884
页数:16
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