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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Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.
Marcella Neri,Marcella Neri,Silvia Torelli,Susan C. Brown,Isabella Ugo,Patrizia Sabatelli,Luciano Merlini,Pietro Spitali,Paola Rimessi,Francesca Gualandi,Caroline Sewry,Caroline Sewry,Alessandra Ferlini,Alessandra Ferlini,Francesco Muntoni +14 more
TL;DR: It was found that dystrophin levels comprised between 29% and 57% were sufficient to avoid muscle weakness in these XLDC families, and this information will be of help for the development of therapeutic approaches aimed at restoring dystrophic levels sufficient to prevent the muscle pathology in DMD.
Journal ArticleDOI
The 6‐minute walk test in Duchenne/Becker muscular dystrophy: Longitudinal observations
Craig M. McDonald,Erik K Henricson,Jay J. Han,R. Ted Abresch,Alina Nicorici,Leone Atkinson,Gary Elfring,A. Reha,Langdon L. Miller +8 more
TL;DR: Changes in 6MWD depended on stride length and age; improvements usually occurred by 7–8 years of age; older DBMD subjects worsened, whereas older healthy subjects were stable.
Journal ArticleDOI
Muscle histology vs MRI in Duchenne muscular dystrophy.
Maria Kinali,Virginia Arechavala-Gomeza,Sebahattin Cirak,A. Glover,M. Guglieri,Lucy Feng,Kieren G. Hollingsworth,D. Hunt,Heinz Jungbluth,Helen Roper,Ros Quinlivan,J. A. Gosalakkal,Sandeep Jayawant,A. Nadeau,L. Hughes-Carre,Adnan Y. Manzur,Eugenio Mercuri,Jennifer E. Morgan,Volker Straub,Kate Bushby,Caroline Sewry,Mary A. Rutherford,Francesco Muntoni +22 more
TL;DR: This study provides a detailed correlation between muscle histology and MRI changes in DMD and demonstrates the value of this imaging technique as a reliable tool for the selection of muscles in patients recruited into clinical trials.
Journal ArticleDOI
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities.
Katharine Bushby,D. Gardner-Medwin,L. V. B. Nicholson,M. A. Johnson,I. D. Haggerty,N. J. Cleghorn,J. B. Harris,S. S. Bhattacharya +7 more
TL;DR: In this paper, a detailed clinical assessment of 67 patients with proven Becker muscular dystrophy with the results from genetic and protein analyses was carried out, and the deletions in this group were all clustered in the region of the gene between exons 45 and 59.
Journal ArticleDOI
Reliable surrogate outcome measures in multicenter clinical trials of Duchenne muscular dystrophy
J. Mayhew,Julaine Florence,Thomas P. Mayhew,Erik K Henricson,Robert T. Leshner,Robert McCarter,Diana M. Escolar +6 more
TL;DR: It is suggested that primary surrogate outcome measures in large multicenter clinical trials in DMD should use QMT, FVC, or time function tests to obtain maximum power and greatest sensitivity.
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