实验性反义寡核苷酸GTX-102治疗Angelman综合征的临床试验即将开始

2020-02-15 Allan MedSci原创

生物制药公司GeneTx今日宣布,将开始进行GTX-102治疗Angelman综合征的临床试验,GTX-102是一种实验性反义寡核苷酸药物,正在评估其对Angelman综合征(AS)的安全性和耐受性。

生物制药公司GeneTx今日宣布,将开始进行GTX-102治疗Angelman综合征的临床试验,GTX-102是一种实验性反义寡核苷酸药物,正在评估其对Angelman综合征(AS)的安全性和耐受性。这项I/II期开放标签、多剂量研究的目的是评估GTX-102治疗Angelman综合征患儿的安全性、耐受性以及血浆和脑脊液(CSF)浓度。将招募大约20名患儿,这些患者经遗传学确诊为母体UBE3A基因完全缺失。

Angelman综合征(天使人综合征)是一种基因缺陷而造成的疾病。罹患此症的儿童,脸上常有笑容,缺乏语言能力、过动,且智能低下。患者中约80%会有癫痫症状、约50%患有小头症。Angelman综合征的病因是由于来自母亲的第15号染色体印迹基因区15q部分缺陷,或同时拥有两条来自父亲的带有此缺陷的第15号染色体。


原始出处:

https://www.firstwordpharma.com/node/1700982

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    2020-08-30 zzc2211
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    2020-05-01 xsm918
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    2020-07-20 lujian
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    2020-02-15 lian6388

    学习中学习中谢谢分享

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