作者
Jerry R Mendell, Louise R Rodino‐Klapac, Xiomara Q Rosales, Brian D Coley, Gloria Galloway, Sarah Lewis, Vinod Malik, Chris Shilling, Barry J Byrne, Thomas Conlon, Katherine J Campbell, William G Bremer, Laura E Taylor, Kevin M Flanigan, Julie M Gastier‐Foster, Caroline Astbury, Janaiah Kota, Zarife Sahenk, Christopher M Walker, K Reed Clark
发表日期
2010/11
期刊
Annals of neurology
卷号
68
期号
5
页码范围
629-638
出版商
Wiley Subscription Services, Inc., A Wiley Company
简介
Objective
The aim of this study was to attain long‐lasting alpha‐sarcoglycan gene expression in limb‐girdle muscular dystrophy, type 2D (LGMD2D) subjects mediated by adeno‐associated virus (AAV) gene transfer under control of a muscle specific promoter (tMCK).
Methods
rAAV1.tMCK.hSGCA (3.25 × 1011 vector genomes) was delivered to the extensor digitorum brevis muscle of 3 subjects with documented SGCA mutations via a double‐blind, randomized, placebo controlled trial. Control sides received saline. The blind was not broken until the study was completed at 6 months and all results were reported to the oversight committee.
Results
Persistent alpha‐sarcoglycan gene expression was achieved for 6 months in 2 of 3 LGMD2D subjects. Markers for muscle fiber transduction other than alpha‐sarcoglycan included expression of major histocompatibility complex I, increase in muscle fiber size, and …
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JR Mendell, LR Rodino‐Klapac, XQ Rosales, BD Coley… - Annals of neurology, 2010