Homozygous Familial Hypercholesterolemia Repository

Disease

Familial homozygous hypercholesterolemia

Protocol Title

The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

Principal Investigator and Contact Information

Lisa Hudgins, M.D.
Telephone: 646-317-0805
E-mail: lih2013@nyp.org

Study Status

Open for Enrollment

Brief Summary of Protocol

The purpose of this study is to better understand the changes in cholesterol levels, the blood vessels, and the overall health of children and adults with homozygous familial hypercholesterolemia (hoFH).

Homozygous familial hypercholesterolemia is a rare (~1 in 1,000,000) inherited (genetic) disorder that is usually due to a double mutation in the gene for the Low-Density Lipoprotein (LDL) receptor. The disease causes very high levels of LDL (“bad”) cholesterol to accumulate in the blood and the lining of arteries starting from birth because the liver cannot clear the LDL cholesterol from the blood. As a result, if untreated, heart attacks and sudden death occur in childhood. Because patients with this disorder do not respond enough to diet and cholesterol-lowering drugs, other specialized cholesterol-lowering treatments are required, such as LDL-apheresis, portacaval shunt, or liver transplantation. However, because the disease is so rare, there is not a lot of information about which treatment is best at which stage of cardiovascular disease.

Children and adults with an untreated LDL cholesterol of >500 mg/dL may be eligible for enrollment. With consent, clinical information including cholesterol levels, medications, tests of the heart, and family history will be entered into a database. In addition, photos will be obtained of cholesterol deposits in the skin (xanthomas), if present. A small amount of blood will be stored for future testing of DNA, RNA, and markers of blood vessel disease.

Treatment Overview (Potential Benefits)

We cannot guarantee that participants will benefit directly from participation in this repository. However, participants and others may benefit in the future from the increased understanding that this information may give us about hoFH.