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. / Kinali, Maria; Arechavala-Gomeza, Virginia; Feng, Lucy; Cirak, Sebahattin; Hunt, David; Adkin, Carl; Guglieri, Michela; Ashton, Emma; Abbs, Stephen; Nihoyannopoulos, Petros; Garralda, Maria Elena; Rutherford, Mary; McCulley, Caroline; Popplewell, Linda; Graham, Ian R; Dickson, George; Wood, Matthew J A; Wells, Dominic J; Wilton, Steve D; Kole, Ryszard; Straub, Volker; Bushby, Kate; Sewry, Caroline; Morgan, Jennifer E; Muntoni, Francesco.

In: Lancet Neurology, Vol. 8, No. 10, 10.2009, p. 918-928.

Research output: Contribution to journalArticle

Published

  • Maria Kinali
  • Virginia Arechavala-Gomeza
  • Lucy Feng
  • Sebahattin Cirak
  • David Hunt
  • Carl Adkin
  • Michela Guglieri
  • Emma Ashton
  • Stephen Abbs
  • Petros Nihoyannopoulos
  • Maria Elena Garralda
  • Mary Rutherford
  • Caroline McCulley
  • Ian R Graham
  • Matthew J A Wood
  • Dominic J Wells
  • Steve D Wilton
  • Ryszard Kole
  • Volker Straub
  • Kate Bushby
  • Caroline Sewry
  • Jennifer E Morgan
  • Francesco Muntoni

Abstract

Mutations that disrupt the open reading frame and prevent full translation of DMD, the gene that encodes dystrophin, underlie the fatal X-linked disease Duchenne muscular dystrophy. Oligonucleotides targeted to splicing elements (splice switching oligonucleotides) in DMD pre-mRNA can lead to exon skipping, restoration of the open reading frame, and the production of functional dystrophin in vitro and in vivo, which could benefit patients with this disorder.
Original languageEnglish
Pages918-928
Number of pages11
JournalLancet Neurology
Journal publication dateOct 2009
Journal number10
Volume8
Early online date26/08/09
DOIs
StatePublished

ID: 961812