NCT01109368Recruiting
The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
Source: ClinicalTrials.gov · Last updated 6 Apr 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 60 (estimated)
- First submitted
- 21 Apr 2010
- Start date
- Jun 2010
- Primary completion date
- May 2030
- Lead sponsor
- The Rogosin Institute
- Diseases
- Familial hypercholesterolaemia
- NCT number
- NCT01109368
What you commit to
- Study type: Observational
- Planned participants: 60
- From Jun 2010 to the primary completion date, May 2030
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- 1\. Inability of patient, or, if less than 18, a parent, to sign informed consent.
Who the study is looking for
- 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
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Save your city in your profile to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Weill Cornell Medical College Coordinator of this site? Confirm its status | New York | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.