WILTON STEPHEN DONALD,FLETCHER SUE,HANSON GUNNAR JAMES,BESTWICK RICHARD KEITH
申请号：
IN201617007888
公开号：
IN201617007888A
申请日:
2016.03.07
申请国别(地区):
IN
年份:
2016
代理人:
摘要：
The present disclosure relates to antisense oligomers and related compositions and methods for inducing exon inclusion as a treatment for glycogen storage disease type II (GSD-II) (also known as Pompe disease glycogenosis II acid maltase deficiency (AMD) acid alpha glucosidase deficiency and lysosomal alpha glucosidase deficiency) and more specifically relates to inducing inclusion of exon 2 and thereby restoring levels of enzymatically active acid alpha glucosidase (GAA) protein encoded by the GAA gene.
