Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.
Sebahattin Cirak,Virginia Arechavala-Gomeza,Michela Guglieri,Lucy Feng,Silvia Torelli,Karen Anthony,Stephen Abbs,M. E. Garralda,John P. Bourke,Dominic J. Wells,George Dickson,Matthew J.A. Wood,Steve D. Wilton,Volker Straub,Ryszard Kole,Stephen B. Shrewsbury,Caroline Sewry,Jennifer E. Morgan,Kate Bushby,Francesco Muntoni +19 more
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TLDR
The safety and biochemical efficacy presented show the potential of AVI-4658 to become a disease-modifying drug for Duchenne muscular dystrophy.About:
This article is published in The Lancet.The article was published on 2011-08-13 and is currently open access. It has received 847 citations till now. The article focuses on the topics: Duchenne muscular dystrophy & Drisapersen.read more
Citations
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RNA therapeutics: beyond RNA interference and antisense oligonucleotides
TL;DR: Three RNA-based therapeutic technologies exploiting various oligonucleotides that bind to RNA by base pairing in a sequence-specific manner yet have different mechanisms of action and effects are discussed.
Journal ArticleDOI
Gene therapy clinical trials worldwide to 2012 - an update
Samantha L. Ginn,Ian E. Alexander,Ian E. Alexander,Michael Edelstein,Mohammad R. Abedi,Jo Wixon +5 more
TL;DR: This database brings together global information on gene therapy clinical trials from official agency sources, published literature, conference presentations and posters kindly provided by individual investigators or trial sponsors.
Journal ArticleDOI
In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy.
Christopher E. Nelson,Chady H. Hakim,David G. Ousterout,Pratiksha I. Thakore,Eirik A. Moreb,Ruth M. Castellanos Rivera,Sarina Madhavan,Xiufang Pan,F. Ann Ran,F. Ann Ran,Winston X. Yan,Winston X. Yan,Winston X. Yan,Aravind Asokan,Feng Zhang,Dongsheng Duan,Charles A. Gersbach +16 more
TL;DR: In this paper, an adeno-associated virus was used to deliver the clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 system to the mdx mouse model of Duchenne muscular dystrophy (DMD) to remove the mutated exon 23 from the dystrophin gene.
In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy
Christopher E. Nelson,Chady H. Hakim,David G. Ousterout,Pratiksha I. Thakore,Eirik A. Moreb,Ruth M. Castellanos Rivera,Sarina Madhavan,X. Pan,F. A. Ran,Winston X. Yan,Aravind Asokan,Feng Zhang,Dongsheng Duan,Charles A. Gersbach +13 more
TL;DR: This work establishes CRISPR-Cas9–based genome editing as a potential therapy to treat DMD and partially restored dystrophin protein expression in skeletal and cardiac muscle and improved skeletal muscle function.
Journal ArticleDOI
The muscular dystrophies.
TL;DR: Advances in the field include improved methods of diagnosis, continued identification of disease genes, and the development of a unified model of pathogenesis in facioscapulohumeral dystrophy, which are reflected in thedevelopment of new therapeutic approaches.
References
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Journal ArticleDOI
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
Maria Kinali,Maria Kinali,Virginia Arechavala-Gomeza,Lucy Feng,Sebahattin Cirak,D. Hunt,C. Adkin,Michela Guglieri,Emma J. Ashton,Stephen Abbs,Petros Nihoyannopoulos,M. E. Garralda,Mary A. Rutherford,Caroline McCulley,Linda Popplewell,Linda Popplewell,Ian R. Graham,Ian R. Graham,George Dickson,George Dickson,Matthew J.A. Wood,Dominic J. Wells,Steve D. Wilton,Ryszard Kole,Volker Straub,Kate Bushby,Caroline Sewry,Jennifer E. Morgan,Francesco Muntoni,Francesco Muntoni +29 more
TL;DR: A single-blind, placebo-controlled, dose-escalation study in patients with Duchenne muscular dystrophy to assess the safety and biochemical efficacy of an intramuscular morpholino splice-switching oligonucleotide (AVI-4658) that skips exon 51 in dystrophin mRNA.
Journal ArticleDOI
Monoclonal antibody analysis of mononuclear cells in myopathies. I : Quantitation of subsets according to diagnosis and sites of accumulation and demonstration and counts of muscle fibers invaded by T cells
Kiichi Arahata,Andrew G. Engel +1 more
TL;DR: T‐B, T‐T, and T‐macrophage cooperativities are likely to exist in muscle in different myopathies and T cell‐mediated fiber injury plays a role in polymyositis and inclusion body myositis.
Reference BookDOI
Antisense drug technology : principles, strategies, and applications
TL;DR: Introduction Mechanisms of Antisense Drug Action, an Introduction, S.A. Levin, R.Z. Yu, and R.S. Geary Routes and Formulations for Delivery ofAntisense Oligonucleotides, G.E. Hardee, L.G. Tillman, and T.T. Maraganore.
Journal ArticleDOI
Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles
Qi Long Lu,Adam Rabinowitz,Yun Chao Chen,Toshifumi Yokota,HaiFang Yin,Julia Alter,Atif Jadoon,George Bou-Gharios,Terence A. Partridge +8 more
TL;DR: It is shown that systemic delivery of specific 2OMeAOs, together with the triblock copolymer F127, induced dystrophin expression in all skeletal muscles but not in cardiac muscle of the mdx dystrophic mice, suggesting that a significant therapeutic effect may be achieved by further optimization in dose and regime of administration of antisense oligonucleotide.
Journal ArticleDOI
Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs.
Toshifumi Yokota,Qi-Long Lu,Terence A. Partridge,Masanori Kobayashi,Akinori Nakamura,Shin'ichi Takeda,Eric P. Hoffman,Eric P. Hoffman +7 more
TL;DR: This work sought to test efficacy and toxicity of intravenous oligonucleotide (morpholino)‐induced exon skipping in the DMD dog model and found it safe and effective.
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