NDI1 Therapy for NADH-Ubiquinone Oxidoreductase Deficiency

这项研究将测试一种新的蛋白质疗法，它可以替代一种叫做线粒体复合体1的缺陷酶。这种缺乏症发生在有缺陷基因的新生儿身上，这些基因中含有形成这种酶的蛋白质。这种缺陷会导致大多数器官代谢障碍，患者需要专科医院和父母护理，但目前还没有治愈方法。我们已经在实验室中成功地进行了测试，但现在将在我们新的动物模型中进行测试。

This study will test a new protein therapy that can act as a surrogate for a deficient or defective enzyme called Mitochondrial Complex 1. The deficiency occurs in newborns with defective genes for the proteins that form the enzyme. The defect causes metabolic malfunction in most organs, with patients needing specialist hospital and parental care, but there is no cure yet. We have successfully tested this in the lab but will now test this in our new animal model of the disease.