外显子跳跃疗法。

Exon Skipping Therapy.

机构信息

Molecular Biology Interdepartmental Program, Center for Duchenne Muscular Dystrophy, Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, Los Angeles, CA 90095; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095.

出版信息

Cell. 2016 Nov 17;167(5):1144. doi: 10.1016/j.cell.2016.10.050.

DOI:10.1016/j.cell.2016.10.050

PMID:27863231

Abstract

Exondys 51 is the first therapy for Duchenne muscular dystrophy (DMD) to have been granted accelerated approval by the FDA. Approval was granted based on using dystrophin expression as a surrogate marker. Exondys 51 targets DMD exon 51 for skipping to restore the reading frame for 13% of Duchenne patients.

摘要

依洛硫酸酯 51 是首款获得美国食品药品监督管理局（FDA）加速批准的杜氏肌营养不良症（DMD）疗法。该批准是基于使用肌营养不良蛋白表达作为替代标志物。依洛硫酸酯 51 针对 DMD 外显子 51 跳跃，从而恢复 13%的杜氏患者的阅读框。