Atherosclerosis in Familial Hypercholesterolemia

July 1, 2015 updated by: University College, London

Incidence and Characteristics of Coronary Atherosclerosis in Asymptomatic Patients With Familial Hypercholesterolemia According to Monogenic Versus Polygenic Status

Familial hypercholesterolemia (FH) is a common inherited disorder with a frequency of 1 in 500 in the UK. Our aim is compare the carotid and coronary artery atherosclerosis in monogenic FH and polygenic hypercholesterolemia with means of a carotid ultrasound, a coronary CT angiogram and biochemical biomarkers.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Detailed Description

Familial hypercholesterolemia (FH) is a common inherited disorder with a frequency of 1 in 500 in the UK. Previous Studies showed that risk of heart attack in these patients is at least 50% higher in men and 30% higher in women compared to the general population as they have high blood cholesterol since birth. We propose to develop a screening model based on non-invasive visualisation of the heart blood vessels (coronary arteries) by CT scan, ultrasound of the neck vessels (carotid arteries) and blood tests to access the extend of cholesterol deposit in the blood vessels in these patients. Participants with confirmed diagnosis of FH would be recruited from FH database registry at Royal Free Hospital. They would have a CT coronary angiogram, an ultrasound of carotid arteries and a blood test. The study is divided into overlapping stages of recruitment and data collection and data analysis. If CT scan shows more than 70% obstruction in their coronary arteries, they would be offered a coronary angiogram and an intracoronary Optical Coherence Tomography for assessment of their blood vessel blockage.

Study Type

Observational

Enrollment (Anticipated)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

50 monogenic FH and 50 polygenic hypercholesterolemia

Description

Inclusion Criteria:

  • The subjects must give written informed consent to participate in the study, Male and female subjects ≥ 18 years old, documentation of clinical diagnosis of familial Hypercholesterolemia

Exclusion Criteria:

  • Estimated GFR <45, pregnant women, Atrial fibrillation or unstable heart rate, Established ischemic heart disease, previous Percutaneous Coronary Investigations (PCI) or Coronary Artery Bypass Surgery (CABG), Known allergy to iodine contrast

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
polygenic hypercholesterolemia
patients with high cholesterol level where no mutation was found in their FH-causing genes and had to gene score in their six LDL-C raising gene score undergo a carotid ultrasound, a CT coronary angiogram and a blood test
Other: CT coronary angiogram and carotid ultrasound
Scans in addition to routine clinical care
monogenic FH
patients with a mutation in FH-causing gene undergo a carotid ultrasound, a CT coronary angiogram and a blood test
Other: CT coronary angiogram and carotid ultrasound
Scans in addition to routine clinical care

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
carotid Intima Media thickness measurement
Time Frame: 24 months
done by carotid ultrasound to look for risk of atherosclerosis
24 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University College, London

Investigators

  • Study Director: Roby Rakhit, University College Hospital and Royal Free Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2014

Primary Completion (Anticipated)

April 1, 2016

Study Completion (Anticipated)

December 1, 2016

Study Registration Dates

First Submitted

July 1, 2015

First Submitted That Met QC Criteria

July 1, 2015

First Posted (Estimate)

July 2, 2015

Study Record Updates

Last Update Posted (Estimate)

July 2, 2015

Last Update Submitted That Met QC Criteria

July 1, 2015

Last Verified

July 1, 2015

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RFH FH Study

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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