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Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials

Lookup NU author(s): Dr Michela Guglieri, Professor Volker Straub, Emerita Professor Katherine Bushby

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Abstract

Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces. As restoration of dystrophin expression is the end point of clinical trials, such residual dystrophin is a key factor in recruitment of patients and may also confound the analysis of dystrophin restoration in treated patients, if, as previously observed in the mdx mouse, revertant fibres increase with age. In 62% of the diagnostic biopsies reports of 65 DMD patients studied, traces or revertants were recorded with no correlation between traces or revertants, the patients' performance, or corticosteroids response. In nine of these patients, there was no increase in traces or revertants in biopsies taken a mean of 8.23. years (5.8-10.4. years) after the original diagnostic biopsy. This information should help in the design and execution of clinical trials focused on dystrophin restoration strategies. © 2010 Elsevier B.V.


Publication metadata

Author(s): Arechavala-Gomeza V, Kinali M, Feng L, Guglieri M, Edge G, Main M, Hunt D, Lehovsky J, Straub V, Bushby K, Sewry C, Morgan J, Muntoni F

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2010

Volume: 20

Issue: 5

Pages: 295-301

Print publication date: 14/04/2010

ISSN (print): 0960-8966

ISSN (electronic):

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/j.nmd.2010.03.007

DOI: 10.1016/j.nmd.2010.03.007

PubMed id: 20395141


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