Recruiting

Observational Study

Sponsor:

The Rogosin Institute

Code:

NCT01109368

Conditions

Homozygous Familial Hypercholesterolemia

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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

Study ID

NCT01109368

Start date

Jun, 2010

Status verified date

Mar, 2026

Completion date

May, 2030

Anticipated

Primary completion date

May, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

60 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Change in disease progression [ Time Frame: 10 years ]

Central Contacts and Locations

Central contacts

Lisa C. Hudgins, M.D.

(212) 746-3561lih2013@med.cornell.edu

Locations

Weill Cornell Medical College

Recruiting

New York, New York, United States, 10021

Contacts

Lisa C. Hudgins, M.D.

212-746-3561lih2013@med.cornell.edu

Principal Investigator:

Lisa Hudgins, M.D.

More Information

Sponsor

The Rogosin Institute

Last update posted

Apr 6, 2026

Last verified

Mar, 2026

Keywords

  • Autosomal Dominant Familial Hypercholesterolemia

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by The Rogosin Institute on 2026-04-06.