Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis
试验速览
- 阶段
- 不适用
- 入组人数
- 17
- 试验地点
- 1
- 主要终点
- Predisposition of CTX patients for pro-atherogenic features as evaluated by lipid and lipoproteins plasma profiles, and blood chemical assessment. Preclinical atherosclerosis in CTX patients as determined by Carotid artery Intima-media thickness 1.
研究概览
简要总结
The aim of the proposed study is to evaluate the risk for cardiovascular disease and 'atherogenic' features of the serum in CTX and to determine preclinical atherosclerosis. The study will include an extensive assessment of lipoprotein profile and carotid artery intima-media thickness (cIMT) measurement.
Lipid and lipoprotein profiles will include novel tests such as direct measurements of apolipoprotein A1,B,C2,C3 plasma levels, lipoprotein (a) levels, highly sensitive C-reactive protein levels and PLAC test that measures the levels of lipoprotein-associated phospholipase A2-a vascular-specific inflammatory enzyme implicated in the formation of atherosclerosis
详细描述
Protocol 09-2009 EVALUATION OF CAROTID IMT AND ATHEROGENIC RISK FACTORS IN PATIENTS WITH CEREBROTENDINOUS XANTHOMATOSIS
ABSTRACT Cerebrotendinous xanthomatosis (CTX) is a rare disease characterized by xanthomatous lesions in many tissues, mainly in the brain. Mutation in the gene of sterol 27-hydroxylase-an enzyme in bile acid synthesis causes CTX. The impaired synthesis of chenodeoxycholic acid from cholesterol results in elevated plasma and bile cholestanol.
The natural course of CTX is progressive neurologic deterioration from childhood through adulthood leading to diffuse damage of the central and peripheral nervous systems and eventually to death.
Cardiovascular involvement in CTX is probably high: different clinical manifestations of cardiovascular disease (CVD) were reported in 10.4% of patients with CTX. The precise mechanism of the atherosclerosis in CTX is unknown and may be related to cholestanol accumulation in the vascular subendothelial space.
Abnormalities in the lipoprotein profile were not described in the literature, and cholesterol levels are within normal limits in CTX. Extensive evaluation for CVD risk factors in the CTX patient group have not been conducted apart from a small number of publications.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 10 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •The study population will constitute of all 17 CTX diagnosed patients
排除标准
- •Non CTX patients
结局指标
主要结局
Predisposition of CTX patients for pro-atherogenic features as evaluated by lipid and lipoproteins plasma profiles, and blood chemical assessment. Preclinical atherosclerosis in CTX patients as determined by Carotid artery Intima-media thickness 1.
时间窗: 3 years
The predisposition of the serum of CTX patients to be pro-atherogenic will be evaluated by detailed lipid and lipoproteins plasma profiles, and blood chemical assessment of specific inflammatory pro-atherogenenic features. IMT Presence of preclinical atherosclerosis will be determined by Carotid artery Intima-media thickness as a marker of risk for cardiovascular disease.
次要结局
未报告次要终点