Homozygous Familial HypercholesterolemicNCT00001204
Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers
An observational study of Homozygous Familial Hypercholesterolemic, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 2 to 70 years
- Conditions the study is for
- Homozygous Familial Hypercholesterolemic
- How many people
- 73 participants
- Where
- 1 siteUnited States
- Study dates
- 7 Jan 1992to not given
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 70 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Familial hypercholesterolemia
Who may be able to join
- 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.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: 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).
Read more
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.
Read the detailed description
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.
- Conditions
- Homozygous Familial Hypercholesterolemic
- Keywords
- Dyslipoproteinemia, Hypercholesterolemia, Atherosclerosis, Natural History
- Medical subject headings
- Dyslipidemias, Hypercholesterolemia, Atherosclerosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous patients with well-characterized LDL receptor defects |
What is being measured
The primary outcome is the main question the study is designed to answer.
We propose performing longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous patients with well-characterized LDL receptor defects.
Descriptive data
Measured: one year
Secondary outcomes (1)
Current work has focused on identifying new noninvasive measurements of CAD and quantitating atherosclerosis burden.
Current work has focused on identifying new noninvasive measurements of CAD and quantitating atherosclerosis burden.
Measured: one year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 1999 (estimated)
- Study start7 Jan 1992
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Homozygous Familial HypercholesterolemicStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 73 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Robert D Shamburek, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001204
- Sponsor's protocol ID
- 850105
- Other IDs
- 85-H-0105
- Status last verified
- 28 Jul 2026
- First submitted
- 3 Nov 1999
- Last updated
- 16 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
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.
PubMed 8301770Sprecher 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.
PubMed 3856094Schmidt 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.
PubMed 8610605