Functional restoration of OTC deficient primary human hepatocytes in a xenograft model using an AAV vector uniquely configured for impending clinical trial use.

该项目的目的是获得临床前数据，这些数据将支持针对严重鸟氨酸转氨甲酰酶（OTC）缺乏症（婴儿和儿童中最常见的尿素循环缺陷）的国际基因治疗试验。在大多数严重病例中，需要进行肝移植以获得长期生存。我们与斯坦福大学的同事最近开发了一种新的基因治疗工具，用于最佳靶向人类肝细胞，该工具将在人源化小鼠模型中进行测试。

The aim of this project is to acquire preclinical data which will underpin an international gene therapy trial for severe ornithine transcarbamylase (OTC) deficiency, the most prevalent urea cycle defect in infants and children. In most severe cases, liver transplantation is required for long term survival. We, with colleagues at Stanford University, have recently developed a novel gene therapy tool for optimal targeting of human liver cells which will be tested in a humanised mouse model.