Clinical Trial: Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis

Study Status: Recruiting
Recruit Status: Unknown status
Study Type: Observational

Official Title: Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis

Brief Summary:

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

Detailed Summary:

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.

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,
Sponsor: Sheba Medical Center

Current Primary Outcome: 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. [ Time Frame: 3 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Sheba Medical Center

Dates:
Date Received: May 22, 2012
Date Started: August 2010
Date Completion: June 2015
Last Updated: June 6, 2012
Last Verified: June 2012