EX VIVO GENE THERAPY OF FAMILIAL HYPERCHOLESTEROLEMIA

本方案的目的是全面评估患者 与纯合子FH，以确定其潜在的适合基因 治疗方案 纯合子FH是一种严重的遗传性疾病， LDS受体基因突变，导致LDL显著升高 水平和严重的过早冠状动脉心脏和其他动脉粥样硬化 血管疾病 此外，该协议的第二个目的是 提供有关的程度和范围的重要信息， 应用定量冠状动脉造影研究纯合子FH的动脉粥样硬化 和特定的非侵入性检查作为冠状动脉疾病的预测指标 (cad)和临床心脏事件。 在GCRC对患者进行年度评估期间，进行以下检查， 除冠状动脉造影外，还将进行：运动 铊/超声心动描记术，心脏超声心动描记术，心脏双功 超声、磁共振成像和血管造影，以及心脏 超高速CT扫描 这些非侵入性测试在 基于临床心脏事件预测CAD的发生， 将研究冠状动脉造影术。

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 lDS receptor gene and results in markedly elevated lDL levels and severe premature conorary heart and other atherosclerotic vascular disease. In addition, a second purpose of this protocol is to provide important information regarding the extent and progesssion 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, cartoid duplex ultrasound, magnetic resonance imaging and angiography, and cardiac Ultrafast CT scanning. The usefulness of these non-invasive tests in predicting the occurence of CAD based on clinical cardiac events and coronary angiography will be studied.