相关实验视频

Updated: Jun 7, 2025

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine

Published on: November 4, 2018

肝脏导向基因治疗后,VI型粘多糖症患者的多年酶表达

Alessandro Rossi¹, Roberta Romano¹, Simona Fecarotta²

¹Department of Translational Medicine, "Federico II" University, 80131 Naples, Italy.

Med (New York, N.Y.)

|November 15, 2024

概括

使用AAV8载体的肝脏导向基因治疗对于VI型粘多糖症 (MPS VI) 是安全的. 在大多数患者中,这种治疗导致了持续的酶活性和适度的GAG降低,为MPS VI提供了有前途的新疗法.

科学领域:

医学遗传学医学遗传学
溶酶体储存疾病溶酶体储存疾病
基因治疗基因治疗

背景情况:

粘多糖症VI型 (MPS VI) 是一种罕见的遗传性疾病,由酸硫酸酶B (ARSB) 缺乏引起,导致糖氨基糖 (GAG) 积累.
目前对MPS VI的治疗有局限性,需要开发新的治疗方法.
以肝脏为导向的基因疗法提出了一个潜在的策略,以解决MPS VI的根本原因.

研究的目的:

评估肝脏基因疗法的长期安全性和有效性,用于MPS VI患者.
评估基因治疗对MPS VI患者生化标志物,身体功能和器官大小的影响.
确定使用复合腺相关病毒血清型8 (AAV8) 载体用于MPS VI治疗的可行性.

主要方法:

一次高剂量AAV8载体编码ARSB的静脉输注给了四名MPS VI患者,这些患者已经停止了酶替代疗法 (ERT).
该研究监测了患者的安全事件,尿液GAG分泌,血清ARSB活性,耐力和呼吸功能.
随访时间的中位数是基因治疗后的45个月.

主要成果:

没有观察到患者晚期出现的安全问题.
检测到持续的血清ARSB活性,范围为38%至67%的健康参考值.
大多数患者表现出尿液GAG度的适度增加,其中一名患者需要重新启动ERT.

结论:

单剂量AAV8.TBG.hARSB基因治疗是安全的,并且在MPS VI患者中实现了持续的ARSB表达.
对大多数参与者来说,治疗导致GAG水平的适度降低.
以肝脏为导向的基因疗法显示出作为MPS VI可行的治疗选择的前景.

关键词:

在 AAV AAV AAV 中.翻译给患者使用.腺相关病毒的病毒.亚利硫酶 B 的作用.基因治疗的基因疗法遗传性代谢障碍遗传性代谢障碍遗传性代谢障碍溶酶体储存障碍溶酶体储存障碍粘多糖性糖症VI类型

更多相关视频

Study of Viral Vectors in a Three-dimensional Liver Model Repopulated with the Human Hepatocellular Carcinoma Cell Line HepG2

Study of Viral Vectors in a Three-dimensional Liver Model Repopulated with the Human Hepatocellular Carcinoma Cell Line HepG2

Published on: October 24, 2016

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

相关概念视频

Gene Therapy

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...