{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T08:21:19Z","timestamp":1790670079512,"version":"4.1.0"},"reference-count":81,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T00:00:00Z","timestamp":1635811200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2021,11,2]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3233\/jnd-200560","type":"journal-article","created":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T13:03:37Z","timestamp":1622811817000},"page":"869-884","source":"Crossref","is-referenced-by-count":42,"title":["Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases"],"prefix":"10.1177","volume":"8","author":[{"given":"Yoshitsugu","family":"Aoki","sequence":"first","affiliation":[{"name":"Department of Molecular Therapy, National Institute of Neuroscience, National Centre of Neurology and Psychiatry, Kodaira-shi, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew J.A.","family":"Wood","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Oxford, Oxford, UK"},{"name":"Oxford Harrington Rare Disease Centre, University of Oxford, John Radcliffe Hospital, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"issue":"3","key":"10.3233\/JND-200560_ref4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0210574","article-title":"Trends in incidence, prevalence, and mortality of neuromuscular disease in Ontario, Canada: A population-based retrospective cohort study (2003-2014)","volume":"14","author":"Rose","year":"2019","journal-title":"PLoS One"},{"issue":"1","key":"10.3233\/JND-200560_ref5","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1073\/pnas.75.1.280","article-title":"Inhibition of Rous sarcoma virus replication and cell transformation by a specific oligodeoxynucleotide","volume":"75","author":"Zamecnik","year":"1978","journal-title":"Proc Natl Acad Sci U S A [Internet]"},{"issue":"3-4","key":"10.3233\/JND-200560_ref6","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1076\/ocii.7.3.189.4007","article-title":"Fomivirsen - a phosphorothioate oligonucleotide for the treatment of CMV retinitis","volume":"7","author":"de Smet","year":"1999","journal-title":"Ocul Immunol Inflamm [Internet]"},{"issue":"DEC","key":"10.3233\/JND-200560_ref8","doi-asserted-by":"crossref","first-page":"e62","DOI":"10.1038\/mtna.2012.54","article-title":"Dual Myostatin and Dystrophin Exon Skipping by Morpholino Nucleic Acid Oligomers Conjugated to a Cell-penetrating Peptide Is a Promising Therapeutic Strategy for the Treatment of Duchenne Muscular Dystrophy","volume":"1","author":"Malerba","year":"2012","journal-title":"Mol Ther Nucleic Acids [Internet]"},{"issue":"4","key":"10.3233\/JND-200560_ref9","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1172\/JCI86799","article-title":"Welcome to the splice age: Antisense oligonucleotide-mediated exon skipping gains wider applicability","volume":"126","author":"McNally","year":"2016","journal-title":"J Clin Invest"},{"issue":"11","key":"10.3233\/JND-200560_ref10","doi-asserted-by":"crossref","first-page":"4186","DOI":"10.1172\/JCI82768","article-title":"Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping","volume":"125","author":"Gao","year":"2015","journal-title":"J Clin Invest"},{"issue":"10","key":"10.3233\/JND-200560_ref11","doi-asserted-by":"crossref","first-page":"e206","DOI":"10.1038\/mtna.2014.57","article-title":"Antisense oligonucleotide-mediated suppression of muscle glycogen synthase 1 synthesis as an approach for substrate reduction therapy of pompe disease","volume":"3","author":"Clayton","year":"2014","journal-title":"Mol Ther - Nucleic Acids [Internet]"},{"issue":"5","key":"10.3233\/JND-200560_ref12","doi-asserted-by":"crossref","first-page":"562","DOI":"10.15252\/emmm.201505047","article-title":"Antisense-mediated exon skipping: A therapeutic strategy for titin-based dilated cardiomyopathy","volume":"7","author":"Gramlich","year":"2015","journal-title":"EMBO Mol Med"},{"key":"10.3233\/JND-200560_ref13","doi-asserted-by":"crossref","unstructured":"Igreja S , Clarke LA , Botelho HM , Marques L , Amaral MD . 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