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
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Journal ArticleDOI
Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping
Adeline Vulin,Inès Barthélémy,Aurélie Goyenvalle,Jean-Laurent Thibaud,Cyriaque Beley,Graziella Griffith,Rachid Benchaouir,Maëva Le Hir,Yves Unterfinger,Stéphanie Lorain,Patrick A. Dreyfus,Thomas Voit,Pierre G. Carlier,Stéphane Blot,Stéphane Blot,Luis Garcia +15 more
TL;DR: Although AAV-mediated exon skipping was shown safe and efficient to rescue a truncated dystrophin, it appears that recurrent treatments would be required to maintain therapeutic benefit ahead of the progression of the disease.
Journal ArticleDOI
MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy- associated symptoms
Matthew S. Alexander,Juan Carlos Casar,Norio Motohashi,Natássia M. Vieira,Iris Eisenberg,Jamie L. Marshall,Molly Gasperini,Angela Lek,Jennifer Myers,Elicia Estrella,Peter B. Kang,Peter B. Kang,Frederic Shapiro,Fedik Rahimov,Genri Kawahara,Jeffrey J. Widrick,Louis M. Kunkel +16 more
TL;DR: It is determined that muscle-specific transgenic overexpression of miR-486 in muscle of Dmdmdx-5Cv mice results in reduced serum creatine kinase levels, improved sarcolemmal integrity, fewer centralized myonuclei, increased myofiber size, and improved muscle physiology and performance.
Journal ArticleDOI
Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials.
Pierre G. Carlier,Benjamin Marty,Olivier Scheidegger,Paulo Loureiro de Sousa,P. Baudin,Eduard Snezhko,Dmitry Vlodavets +6 more
TL;DR: The versatility of contrast generated by NMR has opened many additional possibilities for characterization of the skeletal muscle and will result in the proposal of more NMR biomarkers, which will reinforce the attractiveness of NMR outcome measures and facilitate their integration in clinical research trials.
Journal ArticleDOI
Alternative splicing in prostate cancer
Alec Paschalis,Adam Sharp,Jonathan Welti,Antje Neeb,Ganesh V. Raj,Jun Luo,Stephen R. Plymate,Johann S. de Bono +7 more
TL;DR: The authors outline the current understanding of the role of the spliceosome in prostate cancer progression and explore the therapeutic utility of manipulating alternative splicing to improve patient care.
Journal ArticleDOI
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials
Karen Anthony,Sebahattin Cirak,Silvia Torelli,Giorgio Tasca,Lucy Feng,Virginia Arechavala-Gomeza,Annarita Armaroli,Michela Guglieri,Chiara S. M. Straathof,Jan J.G.M. Verschuuren,Annemieke Aartsma-Rus,Paula Helderman-van den Enden,Kate Bushby,Volker Straub,Caroline Sewry,Alessandra Ferlini,Enzo Ricci,Jennifer E. Morgan,Francesco Muntoni +18 more
TL;DR: In this paper, the clinical phenotype of 17 patients with Becker muscular dystrophy harbouring in-frame deletions relevant to on-going or planned exon skipping clinical trials was characterized.
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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