Journal ArticleDOI
Eteplirsen approved for Duchenne muscular dystrophy.
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FDA on September 19 approved eteplirsen injection, an antisense oligonucleotide therapy marketed by Sarepta Therapeutics, for the treatment of patients with Duchenne muscular dystrophy who have a confirmed mutation of the dystrophin gene that renders it amenable to exon 51 skipping.Abstract:
FDA on September 19 approved eteplirsen injection, an antisense oligonucleotide therapy marketed by Sarepta Therapeutics, for the treatment of patients with Duchenne muscular dystrophy (DMD) who have a confirmed mutation of the dystrophin gene that renders it amenable to exon 51 skipping.
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Journal ArticleDOI
Development and Clinical Translation of Approved Gene Therapy Products for Genetic Disorders.
Alireza Shahryari,Marie Saghaeian Jazi,Saeed Mohammadi,Hadi Razavi Nikoo,Zahra Nazari,Elaheh Sadat Hosseini,Ingo Burtscher,Seyed Javad Mowla,Heiko Lickert +8 more
TL;DR: The history and development of twenty approved human gene and cell-based gene therapy products that have been approved up-to-now are reviewed in clinic and markets of mainly North America, Europe and Asia.
Journal ArticleDOI
Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy
Yusuke Echigoya,Kenji Rowel Q. Lim,Nhu Trieu,Bo Bao,Bailey Miskew Nichols,Maria Candida Vila,James S. Novak,Yuko Hara,Joshua Lee,Aleksander Touznik,Kamel Mamchaoui,Yoshitsugu Aoki,Shin'ichi Takeda,Kanneboyina Nagaraju,Vincent Mouly,Rika Maruyama,William Duddy,Toshifumi Yokota,Toshifumi Yokota +18 more
TL;DR: The efficacy of exon 51 skipping and rescue of dystrophin protein expression were increased by up to more than 12-fold and 7-fold, respectively, compared with the eteplirsen sequence, highlighting the importance of AO sequence optimization for exon skipping.
Journal ArticleDOI
Respiratory involvement in neuromuscular disorders
TL;DR: New aspects of both diagnosis and management of respiratory muscle weakness in patients with NMDs are summarized, in which subtypes of NMD respiratory muscle dysfunction is particularly relevant.
Journal ArticleDOI
Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System
Annalisa Lattanzi,Stephanie Duguez,Arianna Moiani,Araksya Izmiryan,Elena Barbon,Samia Martin,Kamel Mamchaoui,Vincent Mouly,Francesco Bernardi,Fulvio Mavilio,Matteo Bovolenta,Matteo Bovolenta +11 more
TL;DR: Removal of the duplicated exon was achieved by the use of only one guide RNA (gRNA) directed against an intronic duplicated region, thereby increasing editing efficiency and reducing the risk of off-target effects.
Journal ArticleDOI
Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease.
Erik van der Wal,Atze J. Bergsma,Joon M. Pijnenburg,Ans T. van der Ploeg,W.W.M. Pim Pijnappel +4 more
TL;DR: Results indicate that the common IVS1 GAA splicing variant in Pompe disease is subject to negative regulation, and inhibition of a splicing regulatory element using AONs is able to restore canonical GAAsplicing and endogenous GAA enzyme activity.
Related Papers (5)
FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga.
Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy
Yusuke Echigoya,Kenji Rowel Q. Lim,Nhu Trieu,Bo Bao,Bailey Miskew Nichols,Maria Candida Vila,James S. Novak,Yuko Hara,Joshua Lee,Aleksander Touznik,Kamel Mamchaoui,Yoshitsugu Aoki,Shin'ichi Takeda,Kanneboyina Nagaraju,Vincent Mouly,Rika Maruyama,William Duddy,Toshifumi Yokota,Toshifumi Yokota +18 more