scAAV2/MFSD8 gene replacement therapy (Northwestern University Feinberg School of Medicine/UT Southwestern)(scAAV2/MFSD8 gene replacement therapy (Northwestern University Feinberg School of Medicine/UT Southwestern))

概要

基本信息

药物类型

腺相关病毒基因治疗

别名-

靶点

MFSD8

作用机制

MFSD8基因转移(Major facilitator superfamily domain-containing protein 8 gene transference)

治疗领域

遗传病与畸形内分泌与代谢疾病

在研适应症

溶酶体贮积病

非在研适应症

神经元蜡样质脂褐质沉积症

原研机构

Feinberg School of Medicine

在研机构

The University of Texas Southwestern Medical Center

Feinberg School of Medicine

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)-

特殊审评-

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关联

100 项与 scAAV2/MFSD8 gene replacement therapy (Northwestern University Feinberg School of Medicine/UT Southwestern) 相关的临床结果

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100 项与 scAAV2/MFSD8 gene replacement therapy (Northwestern University Feinberg School of Medicine/UT Southwestern) 相关的转化医学

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100 项与 scAAV2/MFSD8 gene replacement therapy (Northwestern University Feinberg School of Medicine/UT Southwestern) 相关的专利（医药）

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1

项与 scAAV2/MFSD8 gene replacement therapy (Northwestern University Feinberg School of Medicine/UT Southwestern) 相关的文献（医药）

2022-03-01·Journal of Clinical Investigation1区 · 医学

AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 disease

1区 · 医学

Article

作者: Shaffo, Frances C ; Gray, Steven J ; Chen, Xin ; Mazzulli, Joseph R ; Hu, Yuhui ; Belur, Nandkishore R ; Dong, Thomas

Neuronal ceroid lipofuscinosis type 7 (CLN7) disease is a lysosomal storage disease caused by mutations in the facilitator superfamily domain containing 8 (MFSD8) gene, which encodes a membrane-bound lysosomal protein, MFSD8. To test the effectiveness and safety of adeno-associated viral (AAV) gene therapy, an in vitro study demonstrated that AAV2/MFSD8 dose dependently rescued lysosomal function in fibroblasts from a CLN7 patient. An in vivo efficacy study using intrathecal administration of AAV9/MFSD8 to Mfsd8- /- mice at P7-P10 or P120 with high or low dose led to clear age- and dose-dependent effects. A high dose of AAV9/MFSD8 at P7-P10 resulted in widespread MFSD8 mRNA expression, tendency of amelioration of subunit c of mitochondrial ATP synthase accumulation and glial fibrillary acidic protein immunoreactivity, normalization of impaired behaviors, doubled median life span, and extended normal body weight gain. In vivo safety studies in rodents concluded that intrathecal administration of AAV9/MFSD8 was safe and well tolerated. In summary, these results demonstrated that the AAV9/MFSD8 vector is both effective and safe in preclinical models.

100 项与 scAAV2/MFSD8 gene replacement therapy (Northwestern University Feinberg School of Medicine/UT Southwestern) 相关的药物交易

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研发状态

10 条进展最快的记录,

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适应症	最高研发状态	国家/地区	公司	日期
溶酶体贮积病	临床前	美国	The University of Texas Southwestern Medical Center	-
溶酶体贮积病	临床前	美国	Feinberg School of Medicine	-
神经元蜡样质脂褐质沉积症	药物发现	美国	The University of Texas Southwestern Medical Center	2021-05-04
神经元蜡样质脂褐质沉积症	药物发现	美国	Feinberg School of Medicine	2021-05-04