- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00001204
Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers
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.
Study Overview
Status
Conditions
Detailed Description
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
-
-
Maryland
-
Bethesda, Maryland, United States, 20892
- National Institutes of Health Clinical Center
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
- 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.
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
---|
1
Longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous patients with well-characterized LDL receptor defects
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
We propose performing longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous patients with well-characterized LDL receptor defects.
Time Frame: one year
|
Descriptive data
|
one year
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Current work has focused on identifying new noninvasive measurements of CAD and quantitating atherosclerosis burden.
Time Frame: one year
|
Current work has focused on identifying new noninvasive measurements of CAD and quantitating atherosclerosis burden.
|
one year
|
Collaborators and Investigators
Investigators
- Principal Investigator: Robert D Shamburek, M.D., National Heart, Lung, and Blood Institute (NHLBI)
Publications and helpful links
General Publications
- Hoeg JM. Familial hypercholesterolemia. What the zebra can teach us about the horse. JAMA. 1994 Feb 16;271(7):543-6. doi: 10.1001/jama.271.7.543. No abstract available.
- Sprecher DL, Hoeg JM, Schaefer EJ, Zech LA, Gregg RE, Lakatos E, Brewer HB Jr. The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia. Metabolism. 1985 Mar;34(3):294-9. doi: 10.1016/0026-0495(85)90015-0.
- Schmidt HH, Hill S, Makariou EV, Feuerstein IM, Dugi KA, Hoeg JM. Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia. Am J Cardiol. 1996 Mar 15;77(8):575-80. doi: 10.1016/s0002-9149(97)89309-5.
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 850105
- 85-H-0105
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Homozygous Familial Hypercholesterolemic
-
Novartis PharmaceuticalsActive, not recruitingFamilial Hypercholesterolemia - HomozygousGreece, Lebanon, Turkey, France, Canada, Malaysia, Netherlands, United States
-
Novartis PharmaceuticalsRecruitingHeterozygous or Homozygous Familial HypercholesterolemiaNetherlands, Israel, Hungary, Italy, Germany, Spain, France, Norway, South Africa, Turkey, United Kingdom, Canada, Switzerland, Brazil, Lebanon, Slovenia, United States, Russian Federation, Taiwan
-
REGENXBIO Inc.National Heart, Lung, and Blood Institute (NHLBI)TerminatedHomozygous Familial Hypercholesterolemia (HoFH)United States, Canada, Italy, Netherlands
-
Danone ResearchCompletedMild Hypercholesterolemic SubjectsGermany
-
Institut Investigacio Sanitaria Pere VirgiliRecruitingFamilial Hypercholesterolemia | Familial Hypercholesterolemia - Homozygous | Familial Hypercholesterolemia - HeterozygousSpain
-
Novartis PharmaceuticalsCompletedElevated Cholesterol | Homozygous Familial Hypercholesterolemia | Heterozygous Familial Hypercholesterolemia | ASCVDUnited States, Canada, Czechia, Denmark, Germany, Hungary, Netherlands, Poland, South Africa, Spain, Sweden, Ukraine, United Kingdom
-
First Affiliated Hospital Xi'an Jiaotong UniversityRecruitingHomozygous Familial HypercholesterolemiaChina
-
Beijing Suncadia Pharmaceuticals Co., LtdNot yet recruitingHomozygous Familial Hypercholesterolemia
-
Arrowhead PharmaceuticalsActive, not recruitingHomozygous Familial HypercholesterolemiaAustralia, Canada, United States, South Africa