The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

NCT01109368 | Recruiting

• 1 other identifier: 0912010770
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

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.

Conditions

Homozygous Familial Hypercholesterolemia

Keywords

Autosomal Dominant Familial Hypercholesterolemia

Outcome Measures

Primary Outcomes (1)

• Change in disease progression

  10 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• \. 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

You may not qualify if:

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

Sponsors & Collaborators

• The Rogosin Institute: lead

Study Sites (1)

The Rogosin Institute, Weill Cornell Medical College

New York, New York, 10021, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Plasma, serum, monocytes

MeSH Terms

Conditions

Homozygous Familial Hypercholesterolemia

Condition Hierarchy (Ancestors)

Hyperlipoproteinemia Type II; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Lisa C. Hudgins, M.D.

  The Rogosin Institute

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Lisa C. Hudgins, M.D.

CONTACT

646-317-0805; lih2013@nyp.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 21, 2010
• First Posted: April 23, 2010
• Study Start: June 1, 2010
• Primary Completion (Estimated): May 1, 2030
• Study Completion (Estimated): May 1, 2030
• Last Updated: July 24, 2025

Record last verified: 2025-07

Locations

US (1)