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
Reads0
Chats0
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
More filters
Journal ArticleDOI
Mutations in spliceosome genes and therapeutic opportunities in myeloid malignancies.
TL;DR: Current understanding on the mechanisms of how mutant splicing factors impact splicing and the resulting functional and pathophysiological consequences are summarized.
Journal ArticleDOI
NEAT1 polyA-modulating antisense oligonucleotides reveal opposing functions for both long non-coding RNA isoforms in neuroblastoma
Alina Naveed,Jack A. Cooper,Ruohan Li,Alysia Hubbard,Jingwei Chen,Tao Liu,Steve D. Wilton,Sue Fletcher,Archa H. Fox +8 more
TL;DR: Potential anti-cancer ASO drugs that can transiently increase growth-inhibiting NEAT1_2 RNA at the expense of growth-promoting NEAT2 RNA are developed and provide insights into the importance of altering lncRNA polyadenylation events to suppress tumorigenesis as a strategy to combat cancer.
Journal ArticleDOI
Exon skipping for nonsense mutations in Duchenne muscular dystrophy: too many mutations, too few patients?
TL;DR: The world-wide database containing notations for more than 1200 patients with nonsense mutations is examined, discussing progress and remaining hurdles in exon skipping and an alternative strategy, stop-codon readthrough.
Journal ArticleDOI
Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies
Narinder Janghra,Jennifer E. Morgan,Caroline Sewry,Francis Xavier Wilson,Kay E. Davies,Francesco Muntoni,Jonathon M. Tinsley +6 more
TL;DR: It is shown for the first time that the percentage of regenerating muscle fibres within the muscle biopsy correlate with the clinical severity of Becker and Duchenne muscular dystrophy patients from whom the biopsy was taken.
Journal ArticleDOI
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy
Kathryn R. Wagner,Hoda Abdel-Hamid,Jean K. Mah,Craig Campbell,Michela Guglieri,Francesco Muntoni,Yasuhiro Takeshima,Craig M. McDonald,Anna Kostera-Pruszczyk,Peter I. Karachunski,Russell J. Butterfield,Eugenio Mercuri,Eugenio Mercuri,Chiara Fiorillo,Enrico Bertini,C. Tian,J. Statland,Alesia Sadosky,Vivek S. Purohit,Sarah P. Sherlock,Jeffrey P. Palmer,Michael Binks,Lawrence Charnas,Shannon Marraffino,Brenda L. Wong +24 more
TL;DR: Domagrozumab was generally safe and well tolerated in patients with DMD and its open-label extension and Efficacy measures did not support a significant treatment effect.
References
More filters
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.
Related Papers (5)
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
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
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
Eteplirsen for the treatment of Duchenne muscular dystrophy
Jerry R. Mendell,Louise R. Rodino-Klapac,Zarife Sahenk,Kandice Roush,Loren Bird,Linda Lowes,Lindsay N. Alfano,Ann Maria Gomez,Sarah Lewis,Janaiah Kota,Vinod Malik,Kim Shontz,Christopher M. Walker,Kevin M. Flanigan,Marco Corridore,John R. Kean,Hugh D. Allen,Chris Shilling,Kathleen R. Melia,Peter Sazani,Jay B. Saoud,Edward M. Kaye +21 more