Homozygous Familial HypercholesterolemiaNCT01109368
The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
An observational study of Homozygous Familial Hypercholesterolemia, run by The Rogosin Institute at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Homozygous Familial Hypercholesterolemia
- How many people
- 60 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2010to May 2030
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 1. Inability of patient, or, if less than 18, a parent, to sign informed consent.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Weill Cornell Medical College
New York, New York, 10021
Lisa C. Hudgins, M.D., 212-746-3561, lih2013@med.cornell.edu
Lisa Hudgins, M.D.
About this study
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.
Read the 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.
- Conditions
- Homozygous Familial Hypercholesterolemia
- Keywords
- Autosomal Dominant Familial Hypercholesterolemia
- Medical subject headings
- Homozygous Familial Hypercholesterolemia
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in disease progression
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Apr 2010 (estimated)
- Study startJun 2010
- Primary completionMay 2030 (estimated)
- Study completionMay 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Homozygous Familial HypercholesterolemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Rogosin Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Lisa C. Hudgins, M.D., Principal investigator, Weill Medical College of Cornell University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01109368
- Sponsor's protocol ID
- 0912010770
- Status last verified
- Mar 2026
- First submitted
- 21 Apr 2010
- Last updated
- 6 Apr 2026
- Results posted
- No
- Data monitoring committee
- No