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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Concise Review: Mesoangioblast and Mesenchymal Stem Cell Therapy for Muscular Dystrophy: Progress, Challenges, and Future Directions
TL;DR: The potential for systemic delivery of mesenchymal stem cells increases the feasibility of stem cell therapy for the large numbers of affected skeletal muscles in patients with muscular dystrophy.
Journal ArticleDOI
Allele-selective inhibition of trinucleotide repeat genes.
Masayuki Matsui,David R. Corey +1 more
TL;DR: This work reviews approaches that use synthetic nucleic acids to inhibit expression of trinucleotide repeat genes and suggests strategies to lower levels of mutant protein while leaving adequate wild-type protein levels.
Journal ArticleDOI
Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model.
Candice Brinkmeyer-Langford,Candice Brinkmeyer-Langford,Candice Brinkmeyer-Langford,Candice Brinkmeyer-Langford,Candice Brinkmeyer-Langford,Candice Brinkmeyer-Langford,Joe N. Kornegay +6 more
TL;DR: The utility of comparative genomics in elucidating the complex background behind phenotypic variation in a canine model of DMD, Golden Retriever muscular dystrophy (GRMD), can be exploited in the development of improved, more personalized treatments for DMD patients.
Journal ArticleDOI
Targeting TGF-β Signaling by Antisense Oligonucleotide-mediated Knockdown of TGF-β Type I Receptor
Dwi U. Kemaladewi,Svitlana Pasteuning,Joke W. Boertje-van der Meulen,Sandra H. van Heiningen,Gert-Jan B. van Ommen,Peter ten Dijke,Annemieke Aartsma-Rus,Peter A C 't Hoen,Willem M.H. Hoogaars +8 more
TL;DR: A novel method to target TGF-β signaling cascades with potential beneficial effects for DMD is presented, which resulted in a decrease in expression of fibrosis-related genes and upregulation of Myog expression in dystrophic muscles.
Journal ArticleDOI
Targeted exon skipping to address “Leaky” mutations in the dystrophin gene
Sue Fletcher,C. Adkin,Penny Meloni,Brenda Wong,Francesco Muntoni,Ryszard Kole,Clayton T. Fragall,K. Greer,Russell D. Johnsen,Steve D. Wilton +9 more
TL;DR: Oligomers targeting exon 8, that unequivocally increase dystrophin above baseline in vitro, are described and it is proposed that patients with leaky mutations are ideally suited for participation in antisense oligomer mediated splice-switching clinical studies.
References
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Journal ArticleDOI
Dystrophin: The protein product of the duchenne muscular dystrophy locus
TL;DR: The identification of the mdx mouse as an animal model for DMD has important implications with regard to the etiology of the lethal DMD phenotype, and the protein dystrophin is named because of its identification via the isolation of the Duchenne muscular dystrophy locus.
Journal ArticleDOI
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
Katharine Bushby,Richard S. Finkel,David J. Birnkrant,Laura E. Case,Paula R. Clemens,Linda H. Cripe,Ajay Kaul,Kathi Kinnett,Craig M. McDonald,Shree Pandya,James Poysky,Frederic Shapiro,Jean Tomezsko,Carolyn M. Constantin +13 more
TL;DR: These recommendations provide a framework for recognising the multisystem primary manifestations and secondary complications of DMD and for providing coordinated multidisciplinary care.
Journal ArticleDOI
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care
Katharine Bushby,Richard S. Finkel,David J. Birnkrant,Laura E. Case,Paula R. Clemens,Linda H. Cripe,Ajay Kaul,Kathi Kinnett,Craig M. McDonald,Shree Pandya,James Poysky,Frederic Shapiro,Jean Tomezsko,Carolyn M. Constantin +13 more
TL;DR: A comprehensive set of DMD care recommendations for management of rehabilitation, orthopaedic, respiratory, cardiovascular, gastroenterology/nutrition, and pain issues, as well as general surgical and emergency-room precautions are presented.
Journal ArticleDOI
Local Dystrophin Restoration with Antisense Oligonucleotide PRO051
Judith C.T. van Deutekom,Anneke A.M. Janson,Ieke B. Ginjaar,Wendy S. Frankhuizen,Annemieke Aartsma-Rus,Mattie Bremmer-Bout,Johan T. den Dunnen,Klaas Koop,Anneke J. van der Kooi,Nathalie Goemans,Sjef J. de Kimpe,Peter F. Ekhart,Edna H. Venneker,Gerard Johannes Platenburg,Jan J.G.M. Verschuuren,Gert-Jan B. van Ommen +15 more
TL;DR: Intramuscular injection of antisense oligonucleotide PRO051 induced dystrophin synthesis in four patients with Duchenne's muscular dystrophy who had suitable mutations, suggesting that further studies might be feasible.
Journal ArticleDOI
Systemic administration of PRO051 in Duchenne's muscular dystrophy.
Nathalie Goemans,Mar Tulinius,Johanna T van den Akker,Brigitte E Burm,Peter F. Ekhart,Niki Heuvelmans,Tjadine Holling,Anneke A.M. Janson,Gerard Johannes Platenburg,Jessica A. Sipkens,J M Ad Sitsen,Annemieke Aartsma-Rus,Gert-Jan B. van Ommen,Gunnar Buyse,Niklas Darin,Jan J.G.M. Verschuuren,G. Campion,Sjef J. de Kimpe,Judith C.T. van Deutekom +18 more
TL;DR: Systemically administered PRO051 showed dose-dependent molecular efficacy in patients with Duchenne's muscular dystrophy, with a modest improvement in the 6-minute walk test after 12 weeks of extended treatment.
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