Exon skipping: a first in class strategy for Duchenne muscular dystrophy.
TLDR
The authors explain the antisense-mediated exon skipping approach, outline how it needs be tailored for different DMD mutation types and describe the challenges and opportunities for each mutation type.Abstract:
Introduction: Exon skipping is a therapeutic approach for Duchenne muscular dystrophy (DMD) that has been in development for close to two decades. This approach uses antisense oligonucleotides (AON...read more
Citations
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Dilated Cardiomyopathy: Genetic Determinants and Mechanisms
TL;DR: Determining genetic variants is emerging as an additional adjunct to help further refine subtypes of DCM, especially where arrhythmia risk is increased, and ultimately contribute to clinical management.
Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA
F. Gleason,R. Chollet +1 more
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Duchenne muscular dystrophy.
TL;DR: In this article, the authors present guidelines for the multidisciplinary care for Duchenne muscular dystrophy that address obtaining a genetic diagnosis and managing the various aspects of the disease.
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Clinical trials, progression-speed differentiating features and swiftness rule of the innovative targets of first-in-class drugs.
Ying Hong Li,Xiao Xu Li,Xiao Xu Li,Jia Jun Hong,Yun Xia Wang,Jian Bo Fu,Hong Yang,Chun Yan Yu,Feng Cheng Li,Jie Hu,Weiwei Xue,Yuyang Jiang,Yu Zong Chen,Feng Zhu,Feng Zhu +14 more
TL;DR: A comprehensive analysis of all 89 innovative targets of first-in-class drugs approved in 2004–17 confirmed the literature-reported common druggability characteristics for clinical success of these innovative targets, exposed trial-speed differentiating features associated to the on-target and off-target collateral effects in humans and revealed a simple rule for identifying the speedy human targets through clinical trials.
Journal ArticleDOI
Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues
Annemieke Aartsma-Rus,Volker Straub,Robert Hemmings,Manuel Haas,Gabriele Schlosser-Weber,Violeta Stoyanova-Beninska,Eugenio Mercuri,Francesco Muntoni,Bruno Sepodes,Elizabeth Vroom,Pavel Balabanov +10 more
TL;DR: A perspective on questions regarding the development and regulatory approval of AONs for DMD is presented following a European stakeholder meeting involving academics, regulators, and representatives from industry and patient organizations, and in the light of the most recent scientific and regulatory experience.
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.
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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.
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Two-, six-, and 12-minute walking tests in respiratory disease
TL;DR: Over the ensuing seven months she had three more clinical relapses, each accompanied by reappearance in the stools of either the organism or its cytotoxin, or both, and maintenance treatment with oral vancomycin 125 mg eight-hourly was begun.
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The Complete Sequence of Dystrophin Predicts a Rod-Shaped Cytoskeletal Protein
M. Koenig,M. Koenig,Anthony P. Monaco,Anthony P. Monaco,Louis M. Kunkel,Louis M. Kunkel,Louis M. Kunkel +6 more
TL;DR: The complete sequence of the human Duchenne muscular dystrophy cDNA has been determined and dystrophin shares many features with the cytoskeletal protein spectrin and alpha-actinin and is likely to adopt a rod shape about 150 nm in length.
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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
TL;DR: A molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus is presented and is applicable to potential 5' and 3' intron splice mutations and their effect on protein production and clinical phenotype.
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