title: The emperor's new dystrophin: finding sense in the noise.
abstract: Targeted dystrophin exon removal is a promising therapy for Duchenne muscular dystrophy (DMD); however, dystrophin expression in some reports is not supported by the associated data. As in the account of 'The Emperor's New Clothes', the validity of such claims must be questioned, with critical re-evaluation of available data. Is it appropriate to report clinical benefit and induction of dystrophin as dose dependent when the baseline is unclear? The inability to induce meaningful levels of dystrophin does not mean that dystrophin expression as an end point is irrelevant, nor that induced exon skipping as a strategy is flawed, but demands that drug safety and efficacy, and study parameters be addressed, rather than questioning the strategy or the validity of dystrophin as a biomarker.
authors.affiliation: Centre for Comparative Genomics, Murdoch University, 90 South Street, Murdoch, WA 6009, Australia; West Australian Neuroscience Research Institute, Murdoch University, 90 South Street, Murdoch, WA 6009, Australia. Electronic address: swilton@ccg.murdoch.edu.au.
authors.forename: S D
authors.initials: SD
authors.lastname: Wilton
authors.affiliation: Centre for Comparative Genomics, Murdoch University, 90 South Street, Murdoch, WA 6009, Australia; West Australian Neuroscience Research Institute, Murdoch University, 90 South Street, Murdoch, WA 6009, Australia.
authors.forename: R N
authors.initials: RN
authors.lastname: Veedu
authors.affiliation: Centre for Comparative Genomics, Murdoch University, 90 South Street, Murdoch, WA 6009, Australia; West Australian Neuroscience Research Institute, Murdoch University, 90 South Street, Murdoch, WA 6009, Australia.
authors.forename: S
authors.initials: S
authors.lastname: Fletcher
mesh_terms: D000818:Animals; D016189:Dystrophin / Q000235:genetics / Q000378:metabolism*; D005091:Exons / Q000235:genetics; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000378:metabolism
chemical_list: D016189:Dystrophin
keywords: Duchenne muscular dystrophy; clinical evaluation; dystrophin; exon skipping