Actively Recruiting
The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
Led by The Rogosin Institute · Updated on 2026-04-06
60
Participants Needed
1
Research Sites
1039 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients of any age and sex who meet clinical or genetic criteria for hoFH
- Documented, untreated fasting LDL cholesterol level greater than 500 mg/dL and triglycerides less than 200 mg/dL after at least 8 weeks on a cholesterol-lowering diet with secondary causes excluded
- DNA confirmation of a double mutation of the LDL receptor or apoB gene OR LDL greater than 160 mg/dL in both biological parents not associated with a disorder known to elevate LDL OR coronary artery disease in one or both parents or grandparents under 55 years for males, under 65 for females OR tendinous/cutaneous xanthomas under age 10 or coronary artery disease under age 20
You will not qualify if you...
- Inability of patient, or if under 18, a parent, to sign informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Weill Cornell Medical College
New York, New York, United States, 10021
Actively Recruiting
Research Team
L
Lisa C. Hudgins, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here