The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Brief Summary:

This repository will establish for the first time a system to carefully assess and monitor over time the general health and the amount of cholesterol in the arteries of U.S. children and adults with homozygous familial hypercholesterolemia (hoFH). Patients with this very rare disorder have very high blood levels of cholesterol from birth due to the inheritance of an abnormal gene from each parent. As a result, if untreated, heart attacks and sudden death occur in childhood. Treatments such as LDL-apheresis and liver transplant will lower the cholesterol level, but the best treatment and the best way to monitor the effect of the treatment on the arteries are unknown. The collection of clinical data and blood for analysis of known and yet-to-be discovered markers and predictors of arterial disease will yield new information about the natural history of the disorder and response to treatment. The repository will greatly aid the development of specific protocols that seek to learn more about this disease and new therapies.

Condition or disease
Homozygous Familial Hypercholesterolemia

Detailed Description:

Detailed information of "standard of care" procedures will be compiled in a database. These include medical history and physical exam, lipid profiles and other standard blood tests, dietary evaluation and counseling, cardiology evaluation including EKG and echocardiogram,ultrasound of carotids and femoral arteries, CT angiogram and, if indicated, intracoronary angiography (ICA) with intravascular ultrasound (IVUS) and stress echo or nuclear stress testing.

The recommendation for treatment will be individualized. Current options are a) FDA approved cholesterol-lowering medications: statins, ezetimibe b) LDL-apheresis c) liver transplant d) portacaval shunt e) investigational drugs. Treatment of vascular and/or valvular disease may include aspirin, beta blockers, clopidogrel, angioplasty with metal stent, coronary artery bypass surgery, aortic valve repair/replacement.

Research procedures will include medical photos of skin xanthomas, blood assays (apolipoproteins A and B, LDL particle size, homocysteine, TNF, IL-6, insulin, glucose, ICAM, VCAM, P and E selectin, and endothelial progenitor cells), and DNA analysis of the genes for the LDL receptor and other lipid-related genes.

Study Design

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Study Type :	Observational
Estimated Enrollment :	60 participants
Observational Model:	Cohort
Time Perspective:	Prospective
Official Title:	The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
Study Start Date :	June 2010
Estimated Primary Completion Date :	May 2020
Estimated Study Completion Date :	May 2020

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :

1. Change in disease progression [ Time Frame: 10 years ]

Biospecimen Retention:   Samples With DNA

Plasma, serum, monocytes

Eligibility Criteria

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Ages Eligible for Study:	Child, Adult, Senior
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Males and females of any age with severely elevated LDL cholesterol levels without secondary causes and a family history consistent with an autosomal dominant disorder.

Criteria

Inclusion criteria:

1. Patients of any age and sex who meet clinical or genetic criteria for hoFH as follows:

• Documented, untreated fasting LDL cholesterol level of > 500 mg/dL and triglycerides < 200 mg/dL on a cholesterol-lowering diet for at least 8 weeks with secondary causes excluded, AND:

  • DNA confirmation of a double mutation of the LDL receptor or apoB gene OR
  • LDL > 160 mg/dL in both biological parents not associated with a disorder know to elevate LDL OR
  • Coronary artery disease in one or both parents or grandparents < 55 years for males, < 65 for females OR
  • Tendinous/cutaneous xanthomas < age 10 or coronary artery disease < age 20

Exclusion criteria:

1. Inability of patient, or, if less than 18, a parent, to sign informed consent.

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Contacts

Contact: Lisa C. Hudgins, M.D.	646-317-0805	lih2013@nyp.org

Locations

United States, New York
The Rogosin Institute, Weill Cornell Medical College	Recruiting
New York, New York, United States, 10021
Contact: Lisa C. Hudgins, M.D. 646-317-0805 lih2013@nyp.org
Principal Investigator: Lisa Hudgins, M.D.
Sub-Investigator: Bruce Gordon, M.D.
Sub-Investigator: Theodore Tyberg, M.D.
Sub-Investigator: Daniel Levine, Ph.D.
Sub-Investigator: Thomas Parker, Ph.D.
Sub-Investigator: Geoffrey Bergman, M.D.
Sub-Investigator: Sheila Carroll, M.D.
Sub-Investigator: Ajay Mirani, M.D.
Sub-Investigator: Akiko Maehera, M.D.

Sponsors and Collaborators

The Rogosin Institute

Investigators

Principal Investigator:	Lisa C. Hudgins, M.D.	The Rogosin Institute

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Responsible Party:	The Rogosin Institute
ClinicalTrials.gov Identifier:	NCT01109368 History of Changes
Other Study ID Numbers:	0912010770
First Posted:	April 23, 2010
Last Update Posted:	April 10, 2018
Last Verified:	April 2018

Keywords provided by The Rogosin Institute:

Autosomal Dominant Familial Hypercholesterolemia

Additional relevant MeSH terms:

Hypercholesterolemia; Hyperlipoproteinemia Type II; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders	Metabolic Diseases; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Hyperlipoproteinemias