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Atherosclerosis in Familial Hypercholesterolemia

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2015 by University College, London
Information provided by (Responsible Party):
University College, London Identifier:
First received: July 1, 2015
Last updated: NA
Last verified: July 2015
History: No changes posted

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.

Condition Intervention
Familial Hypercholesterolemia
Other: CT coronary angiogram and carotid ultrasound

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Incidence and Characteristics of Coronary Atherosclerosis in Asymptomatic Patients With Familial Hypercholesterolemia According to Monogenic Versus Polygenic Status

Resource links provided by NLM:

Further study details as provided by University College, London:

Primary Outcome Measures:
  • carotid Intima Media thickness measurement [ Time Frame: 24 months ] [ Designated as safety issue: Yes ]
    done by carotid ultrasound to look for risk of atherosclerosis

Estimated Enrollment: 100
Study Start Date: April 2014
Estimated Study Completion Date: December 2016
Estimated Primary Completion Date: April 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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

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.


Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

50 monogenic FH and 50 polygenic hypercholesterolemia


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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02489253

Contact: Roby Rakhit 020 7794 0500 ext 33010

United Kingdom
Royal Free Hospital Recruiting
London, United Kingdom, NW3 2QG
Contact: Roby Rakhit    020 7794 0500 ext 33010   
Sponsors and Collaborators
University College, London
Study Director: Roby Rakhit University College Hospital and Royal Free Hospital
  More Information

No publications provided

Responsible Party: University College, London Identifier: NCT02489253     History of Changes
Other Study ID Numbers: RFH FH Study
Study First Received: July 1, 2015
Last Updated: July 1, 2015
Health Authority: United Kingdom: Research Ethics Committee

Additional relevant MeSH terms:
Hyperlipoproteinemia Type II
Arterial Occlusive Diseases
Cardiovascular Diseases
Genetic Diseases, Inborn
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Metabolic Diseases
Metabolism, Inborn Errors
Vascular Diseases processed this record on July 01, 2015