天使综合征 (辉大基因)(Angelman Syndrome (HuidaGene)) - 药物靶点：Ube3a-ATS_在研适应症：天使综合征_专利_临床

概要

基本信息

药物类型

腺相关病毒基因治疗

别名

AAV Vectors Packaged hfCas13Y or hfCas12Max (HuidaGene)

靶点

Ube3a-ATS

作用机制

Ube3a-ATS调节剂(small nucleolar RNA host gene 14 modulators)

治疗领域

神经系统疾病遗传病与畸形其他疾病

在研适应症

天使综合征

非在研适应症-

原研机构

辉大（上海）生物科技有限公司初创企业

在研机构

辉大（上海）生物科技有限公司初创企业

非在研机构-

最高研发阶段临床前

首次获批日期-

最高研发阶段(中国)临床前

特殊审评-

关联

100 项与天使综合征 (辉大基因) 相关的临床结果

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100 项与天使综合征 (辉大基因) 相关的转化医学

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100 项与天使综合征 (辉大基因) 相关的专利（医药）

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1

项与天使综合征 (辉大基因) 相关的文献（医药）

2025-01-01·Nature Neuroscience

An RNA editing strategy rescues gene duplication in a mouse model of MECP2 duplication syndrome and nonhuman primates

Article

作者: Yao, Yinan ; Wu, Meixian ; Yang, Dong ; Duan, Mengsi ; Zheng, Jin ; Wu, Xiaoqing ; Li, Guoling ; Wang, Xing ; Guo, Aiguo ; Yang, Hui ; Liu, Yuanhua ; Shi, Linyu ; Zhang, Renxia ; Luk, Alvin ; Xu, Chunlong ; Yao, Xuan ; Li, Tong

Duplication of methyl-CpG-binding protein 2 (MECP2) gene causes MECP2 duplication syndrome (MDS). To normalize the duplicated MECP2 in MDS, we developed a high-fidelity Cas13Y (hfCas13Y) system capable of targeting the MECP2 (hfCas13Y-gMECP2) messenger RNA for degradation and reducing protein levels in the brain of humanized MECP2 transgenic mice. Moreover, the intracerebroventricular adeno-associated virus (AAV) delivery of hfCas13Y-gMECP2 in newborn or adult MDS mice restored dysregulated gene expression and improved behavior deficits. Notably, treatment with AAV9-hfCas13Y-gMECP2 extended the median survival of MECP2 transgenic mice from 156.5 to 226 d. Furthermore, studies with monkeys showed a single injection of AAV9-hfCas13Y-gMECP2 was sufficient to drive robust expression of hfCas13Y in widespread brain regions, with MECP2 knockdown efficiency reaching 52.19 ± 0.03% and significantly decreased expression of biomarker gene GDF11. Our results demonstrate that the RNA-targeting hfCas13Y-gMECP2 system is an effective intervention for MDS, providing a potential strategy for treating other dosage-sensitive diseases.

100 项与天使综合征 (辉大基因) 相关的药物交易

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