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

Arechavala-Gomeza, V; Kinali, M; Feng, L; Guglieri, M; Edge, G; Main, M; Hunt, D; ... Muntoni, F; + view all (2010) Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials. Neuromuscular Disorders , 20 (5) 295 - 301. 10.1016/j.nmd.2010.03.007. Green open access

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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. (C) 2010 Elsevier B.V. All rights reserved.

Type: Article
Title: Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.nmd.2010.03.007
Publisher version: http://dx.doi.org/10.1016/j.nmd.2010.03.007
Language: English
Additional information: Copyright © 2010 Elsevier B.V.
Keywords: Duchenne muscular dystrophy, Revertant fibres, Dystrophin expression, SOMATIC REVERSION SUPPRESSION, TRANSGENIC MDX MICE, POSITIVE FIBERS, FRAMESHIFT DELETIONS, NONSENSE MUTATION, MUSCLE-FIBERS, EXPRESSION, GENE, RESTORATION, PHENOTYPE
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/99453
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