The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

Description

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

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Study Overview

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Study Details

Study overview

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.

The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

Condition
Homozygous Familial Hypercholesterolemia
Intervention / Treatment

-

Contacts and Locations

New York

The Rogosin Institute, Weill Cornell Medical College, New York, New York, United States, 10021

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.

For general information about clinical research, read Learn About Studies.

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

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

The Rogosin Institute,

Lisa C. Hudgins, M.D., PRINCIPAL_INVESTIGATOR, The Rogosin Institute

Study Record Dates

2025-05