Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers
| Status: | Active, not recruiting |
|---|---|
| Conditions: | High Cholesterol, Peripheral Vascular Disease, Cardiology |
| Therapuetic Areas: | Cardiology / Vascular Diseases |
| Healthy: | No |
| Age Range: | 2 - 70 |
| Updated: | 2/20/2019 |
| Start Date: | May 28, 1985 |
Cardiovascular Evaluation of Homozygous Familial Hypercholesterolemia
Homozygous familial hypercholesterolemia is a rare inherited disease of metabolism. It occurs
in less than 1 in 1 million people within the United States. Patients with the disease are
typically children and young adults who develop heart disease early in life. Children less
than age 5 years with this disease have suffered heart attacks and death.
The normal process that removes cholesterol particles from the blood stream does not work in
patients with this disease. It causes cholesterol to build-up in the arteries and leads to
hardening of the arteries (atherosclerosis).
The goal of this study is to detect and measure atherosclerosis in these patients before it
becomes permanent and potentially life threatening. Patients with this disease can
participate in this study. Researchers plan to evaluate patients with homozygous familial
hypercholesterolemia using new and standard methods for detecting atherosclerosis.
Researchers plan to use information gathered during this study to develop new, promising
treatments such as liver transplantation and gene therapy.
in less than 1 in 1 million people within the United States. Patients with the disease are
typically children and young adults who develop heart disease early in life. Children less
than age 5 years with this disease have suffered heart attacks and death.
The normal process that removes cholesterol particles from the blood stream does not work in
patients with this disease. It causes cholesterol to build-up in the arteries and leads to
hardening of the arteries (atherosclerosis).
The goal of this study is to detect and measure atherosclerosis in these patients before it
becomes permanent and potentially life threatening. Patients with this disease can
participate in this study. Researchers plan to evaluate patients with homozygous familial
hypercholesterolemia using new and standard methods for detecting atherosclerosis.
Researchers plan to use information gathered during this study to develop new, promising
treatments such as liver transplantation and gene therapy.
Familial hypercholesterolemia is an autosomal co-dominant disorder resulting in abnormal LDL
receptor function, profoundly elevated concentrations of low density lipoproteins,
accelerated atherosclerosis and death by early adulthood. This disease is heterogeneous in
both the degree of LDL receptor dysfunction as well as the age of death. Liver
transplantation has been demonstrated to virtually normalize plasma lipoprotein
concentrations in homozygous FH and the recent cloning of a functional LDL receptor gene
holds promise in the definitive treatment of this condition. We propose performing
longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous
patients with well-characterized LDL receptor defects. Sequential cardiovascular study of
these patients will not only characterize the progression of atherosclerosis heart disease in
this disease, it may also permit the identification of individuals with would be likely to
benefit from liver transplantation and/or genetic engineering.
receptor function, profoundly elevated concentrations of low density lipoproteins,
accelerated atherosclerosis and death by early adulthood. This disease is heterogeneous in
both the degree of LDL receptor dysfunction as well as the age of death. Liver
transplantation has been demonstrated to virtually normalize plasma lipoprotein
concentrations in homozygous FH and the recent cloning of a functional LDL receptor gene
holds promise in the definitive treatment of this condition. We propose performing
longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous
patients with well-characterized LDL receptor defects. Sequential cardiovascular study of
these patients will not only characterize the progression of atherosclerosis heart disease in
this disease, it may also permit the identification of individuals with would be likely to
benefit from liver transplantation and/or genetic engineering.
- INCLUSION CRITERIA:
Fasting cholesterol greater than 500 mg/dl, low density lipoprotein cholesterol greater
than 400 mg/dl, and triglycerides less than mg/dl.
Family history of hypercholesterolemia and/or cardiovascular disease before the age of 60
years.
Tendinous and tuberous xanthomas.
Arcus corneae before the age of 30.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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