别名 APBD、APBN、Adult Polyglucosan Body Disease + [10] |
简介 A glycogen storage disease of adults with characteristics of progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. The prevalence is unknown. More than 50 cases have been described to date in Ashkenazi (in most cases) and non-Ashkenazi Jewish individuals. Presents after the age of 40, with urinary incontinence (indicative of neurogenic bladder) often being the first manifestation. Caused by a mutation in the GBE1 gene, encoding the glucan (1, 4-alpha-) branching enzyme 1 (GBE). |
靶点- |
作用机制 脂肪酸替代品 [+1] |
最高研发阶段批准上市 |
首次获批国家/地区 美国 |
首次获批日期2020-06-30 |
靶点 |
作用机制 GYS1基因抑制剂 [+1] |
在研适应症 |
非在研适应症- |
最高研发阶段临床前 |
首次获批国家/地区- |
首次获批日期1800-01-20 |
靶点 |
作用机制 LAMP-1抑制剂 |
非在研适应症- |
最高研发阶段临床前 |
首次获批国家/地区- |
首次获批日期1800-01-20 |
开始日期2015-12-01 |
申办/合作机构 |
开始日期2009-06-01 |
申办/合作机构 |