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2056-676X712021Feb18Nature reviews. Disease primersNat Rev Dis PrimersDuchenne muscular dystrophy.131310.1038/s41572-021-00248-3Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle. Muscles without dystrophin are more sensitive to damage, resulting in progressive loss of muscle tissue and function, in addition to cardiomyopathy. Recent studies have greatly deepened our understanding of the primary and secondary pathogenetic mechanisms. Guidelines for the multidisciplinary care for Duchenne muscular dystrophy that address obtaining a genetic diagnosis and managing the various aspects of the disease have been established. In addition, a number of therapies that aim to restore the missing dystrophin protein or address secondary pathology have received regulatory approval and many others are in clinical development.DuanDongshengD0000-0003-4109-1132Department of Molecular Microbiology and Immunology and Department of Neurology, School of Medicine; Department of Biomedical Sciences, College of Veterinary Medicine; Department of Biomedical, Biological & Chemical Engineering, College of Engineering, University of Missouri, Columbia, MO, USA.GoemansNathalieNDepartment of Child Neurology, University Hospitals Leuven, Leuven, Belgium.TakedaShin'ichiS0000-0003-4780-6290National Center of Neurology and Psychiatry, Tokyo, Japan.MercuriEugenioECentro Clinico Nemo, Policlinico Gemelli, Rome, Italy.Peadiatric Neurology, Catholic University, Rome, Italy.Aartsma-RusAnnemiekeA0000-0003-1565-654XDepartment of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. a.m.aartsma-rus@lumc.nl.engR01 AR069085ARNIAMS NIH HHSUnited StatesR01 AR070517ARNIAMS NIH HHSUnited StatesR01 NS090634NSNINDS NIH HHSUnited StatesT32 GM144291GMNIGMS NIH HHSUnited StatesJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tReview20210218
EnglandNat Rev Dis Primers1016721032056-676X0DystrophinIMAnimalsDisease Models, AnimalDystrophingeneticsHumansMuscular Dystrophy, DuchennediagnosisgeneticstherapyCompeting interests. D.D. is a member of the scientific advisory board for Solid Biosciences and an equity holder of Solid Biosciences. D.D. is an inventor on patents licensed to various companies. D.D. has served as an ad hoc consultant for 4DMT, Decibel Therapeutics, Evox, Primary Insight, Vida Ventures, Global Guidepoint and GLG consultancy in the past 3 years. The lab of D.D. has received research support from Solid Biosciences and Edgewise Therapeutics in the past 3 years. N.G. has received compensation as member of scientific boards or as speaker at symposia from Sarepta, Pfizer, Italpharmaco and PTC Therapeutics. S.T. has patents on sequences for exon skip by antisense nucleic acids as a member of NCNP together with Nippon Shinyaku. As principal inventor of these patents, S.T. is entitled to a share of royalties. S.T. discloses being an ad hoc consultant for Ono Pharmaceutical, Daiichisankyo, Asahikasei Pharma, Teijin Pharma, AGADA Biosciences, and Wave and being a member of the scientific advisory boards of Nippon Shinyaku, Taiho Pharma and Sarepta therapeutics. S.T. received speaker honoraria from Japan Health Science Foundation and Astellas Pharma and has also received research supports from Taiho Pharma, Daiichisankyo, Nippon Shinyaku, Takeda Pharmaceutical and the Noguchi Institute in the past 3 years. E.M. is a Principal Investigator in clinical trials and advisory board member for Sarepta, Santhera, PTC, Roche, Italfarmaco, NS Pharma and Pfizer. A.A.-R. discloses being employed by Leiden University Medical Center (LUMC), which has patents on exon-skipping technology, some of which has been licensed to BioMarin and subsequently sublicensed to Sarepta. As co-inventor of some of these patents, A.A.-R. is entitled to a share of royalties. A.A.-R. further discloses being an ad hoc consultant for PTC Therapeutics, Sarepta Therapeutics, CRISPR Therapeutics, Summit PLC, Alpha Anomeric, BioMarin Pharmaceuticals Inc., Eisai, Astra Zeneca, Santhera, Audentes, Global Guidepoint and GLG consultancy, Grunenthal, Wave, and BioClinica, having been a member of the Duchenne Network Steering Committee (BioMarin), and being a member of the scientific advisory boards of ProQR, Hybridize Therapeutics, Silence Therapeutics, Sarepta Therapeutics and Philae Pharmaceuticals. Remuneration for these activities is paid to LUMC. LUMC also received speaker honoraria from PTC Therapeutics and BioMarin Pharmaceuticals and funding for contract research from Italpharmaco and Alpha Anomeric. 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