EX VIVO GENE THERAPY OF FAMILIAL HYPERCHOLESTEROLEMIA

该方案的目的是全面评估纯合子FH患者，以确定他们是否适合基因治疗方案。纯合子FH是一种严重的遗传性疾病，由低密度脂蛋白受体基因突变引起，导致低密度脂蛋白水平显著升高，以及严重的过早冠状动脉和其他动脉粥样硬化性血管疾病。此外，该方案的第二个目的是提供有关纯合FH患者动脉粥样硬化程度和进展的重要信息，使用定量冠脉造影术和特定的非侵入性检测来预测纯合FH患者的冠状动脉疾病(CAD)和临床心脏事件。在GCRC对患者进行年度评估期间，除冠脉造影术外，还将进行以下检查：运动铊/超声心动图、心脏超声心动图、颈动脉双功能超声。我们希望重新进行磁共振成像和血管成像，以及心脏超快CT扫描。这些非侵入性测试在根据临床心脏事件和冠状动脉造影术预测冠心病发生方面的有效性将被研究。

The purpose of this protocol is to comprehensively evaluate patients with homozygous FH to determine their potential suitability for the gene therapy protocol. Homozygous FH is a serious genetic disease caused by mutations in the LDL receptor gene and results in markedly elevated LDL levels and severe premature coronary heart and other atherosclerotic vascular disease. In addition, a second purpose of this protocol is to provide important information regarding the extent and progression of atherosclerosis in homozygous FH using quantitative coronary angiography and specific non-invasive tests as predictors of coronary artery disease (CAD) and clinical cardiac events in patients with homozygous FH. During the patient's annual evaluation in the GCRC the following tests, in addition to coronary angiography, will be performed: exercise thallium/echocardiography, cardiac echocardiography, carotid duplex ultrasound. We hope to evantually re-institute performing magnetic resonance imaging and angiography, and cardiac Ultrafast CT scanning as well. The usefulness of these non-invasive tests in predicting the occurrence of CAD based on clinical cardiac events and coronary angiography will be studied.