The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
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.
Homozygous Familial Hypercholesterolemia
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository|
- Change in disease progression [ Time Frame: 10 years ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
Plasma, serum, monocytes
|Study Start Date:||June 2010|
|Estimated Study Completion Date:||May 2020|
|Estimated Primary Completion Date:||May 2020 (Final data collection date for primary outcome measure)|
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.
|Contact: Lisa C. Hudgins, M.D.||firstname.lastname@example.org|
|Contact: Chioma Okoro, MPHemail@example.com|
|United States, New York|
|The Rogosin Institute, Weill Cornell Medical College||Recruiting|
|New York, New York, United States, 10021|
|Contact: Lisa C. Hudgins, M.D. 646-317-0805 firstname.lastname@example.org|
|Principal Investigator: Lisa Hudgins, M.D.|
|Sub-Investigator: Bruce Gordon, M.D.|
|Sub-Investigator: Theodore Tyberg, M.D.|
|Sub-Investigator: Daniel Levine, Ph.D.|
|Sub-Investigator: Thomas Parker, Ph.D.|
|Sub-Investigator: Geoffrey Bergman, M.D.|
|Sub-Investigator: Sheila Carroll, M.D.|
|Sub-Investigator: Ajay Mirani, M.D.|
|Sub-Investigator: Akiko Maehera, M.D.|
|Principal Investigator:||Lisa C. Hudgins, M.D.||The Rogosin Institute|