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Eteplirsen in the treatment of Duchenne muscular dystrophy

Authors Lim KRQ, Maruyama R, Yokota T

Received 30 November 2016

Accepted for publication 9 February 2017

Published 28 February 2017 Volume 2017:11 Pages 533—545

DOI https://doi.org/10.2147/DDDT.S97635

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Colin Mak

Peer reviewer comments 3

Editor who approved publication: Dr Georgios Panos

Kenji Rowel Q Lim,1 Rika Maruyama,1 Toshifumi Yokota1,2

1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 2The Friends of Garrett Cumming Research & Muscular Dystrophy Canada, HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada

Abstract: Duchenne muscular dystrophy is a fatal neuromuscular disorder affecting around one in 3,500–5,000 male births that is characterized by progressive muscular deterioration. It is inherited in an X-linked recessive fashion and is caused by loss-of-function mutations in the DMD gene coding for dystrophin, a cytoskeletal protein that stabilizes the plasma membrane of muscle fibers. In September 2016, the US Food and Drug Administration granted accelerated approval for eteplirsen (or Exondys 51), a drug that acts to promote dystrophin production by restoring the translational reading frame of DMD through specific skipping of exon 51 in defective gene variants. Eteplirsen is applicable for approximately 14% of patients with DMD mutations. This article extensively reviews and discusses the available information on eteplirsen to date, focusing on pharmacological, efficacy, safety, and tolerability data from preclinical and clinical trials. Issues faced by eteplirsen, particularly those relating to its efficacy, will be identified. Finally, the place of eteplirsen and exon skipping as a general therapeutic strategy in Duchenne muscular dystrophy treatment will be discussed.

Keywords: Duchenne muscular dystrophy, eteplirsen, Exondys 51, exon-skipping therapy, phosphorodiamidate morpholino oligomers
 

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