HypercholesterolemiaNCT00353782
Causes and Natural History of Dyslipidemias
An observational study of Hypercholesterolemia and Atherosclerosis, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial summary
This study will evaluate people with dyslipidemias - disorders that affect the fat content in the blood. Fats, or lipids, such as cholesterol and triglycerides, are carried in the blood in particles called lipoproteins. Read more about this study
- Who is it for?
- Ages 2 to 100 years
- Conditions the study is for
- Hypercholesterolemia, Atherosclerosis
- How many people
- 2,000 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Oct 2003to 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 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Unlimited
Who may be able to join
- Children >= 2 years of age and >12 kg and adults
- Dyslipidemia subjects of interest group
- Subject Selection criteria. The study population will include patients who are referred to the Cardiovascular Branch from private care providers or academic institutions with any of the following potential lipid abnormalities or clinical stigmata associated with dyslipoproteinemias: a) increased plasma levels of cholesterol, triglycerides, HDLcholesterol or LDL-cholesterol b) decreased plasma concentrations of cholesterol and HDL-cholesterol c) postprandial hyperlipidemia or d) eruptive xanthomas, xanthelasma, tuberous or tendinous xanthomas, or corneal opacities.
- The following is a representative list of the types of patient presentations with dyslipidemia and potential diagnoses eligible for this protocol:
- Plasma cholesterol levels >200 mg/dl or <120 mg/dl - includes patients with diagnoses such as familial hypercholesterolemia, familial combined hyperlipidemia, sitosterolemia, lipoprotein lipase, hepatic lipase or apo-CII deficiency, and dysbetalipoproteinemia.
- Plasma LDL-C levels >130 mg/dl or <70 mg/dl - includes patients with diagnoses such as familial hypercholesterolemia, PCSK9, apo3500, familial combined hyperlipidemia, sitosterolemia, dysbetalipoproteinemia, abetalipoproteinemia and hypobetalipoproteinemia.
Show all 17Show fewer
- Plasma HDL-C levels >70 mg/dl or <25 mg/dl - includes patients with deficiency of cholesteryl ester transfer protein, lecithin cholesterol acyltransferase, phospholipid transfer protein, lipoprotein lipase, hepatic lipase, or apo-CII, ANGPTL3, and Tangier disease.
- Plasma triglyceride levels >150 mg/dl - includes patients with deficiency of lipoprotein lipase, hepatic lipase or apoC-II, GPIHBP1, LMF1, dysbetalipoproteinemia, Type I, Type IV and Type V hyperlipidemia.
- Eligibility Evaluation
- The participant will be evaluated for eligibility on this protocol according to the usual guidelines of medical care. This includes certain minimal risk screening activities that may be performed prior to obtaining assigned informed consent that could include:
- E-mail, written, in person or telephone communications with prospective subjects.
- Review of existing medical records to include H\&P, laboratory studies such as lipid panels
- Review of existing MRI, x-ray, or CT images.
- Review of existing photographs or videos.
- Review of existing pathology specimens/reports from a specimen obtained for diagnostic purposes.
- We will follow all relevant federal or state laws, and local institutional requirements, as applicable in obtaining an individual's medical chart or results of diagnostic tests performed as part of an individual's regular medical care that are going to be used for eligibility or as a part of collection of data.
- There is no timeline on eligibility of tests, labs, and procedures since these are genetic disorders that subjects have had all their lives.
Who cannot join
- There will be no exclusion from participation in the Lipid Disorder Discovery Pathogenesis protocol on the basis of age/sex/ethnicity/race. Patients with lipid disorder that is likely to result in clinically significant complications (pancreatitis, coronary heart disease) will be evaluated and treated using standard procedures. Subjects will be recruited through direct referrals from primary care providers or academic institutions.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Disease Pathogenesis and Natural History of Lipid Disorders
This study will evaluate people with dyslipidemias - disorders that affect the fat content in the blood. Fats, or lipids, such as cholesterol and triglycerides, are carried in the blood in particles called lipoproteins. These particles are involved in causing blood vessel diseases that can lead to conditions like atherosclerosis (hardening of the arteries) or heart attack. Participants will undergo accepted medical tests and procedures to evaluate their condition. Most of the test results are helpful in making a diagnosis and in guiding treatment.
People with lipid disorders are eligible for this study. Representative types of patients include those with:
Read more
- Plasma cholesterol levels greater than 200 mg/dl or less than 120 mg/dl
- Plasma LDL-C levels greater than 130 mg/dl or less than 70 mg/dl
- Plasma HDL-C levels greater than 70 mg/dl or less than 25 mg/dl
- Unusual cholesterol deposits or xanthomas (nodules of lipid deposits on the skin)
Children under 2 years of age are excluded from the study.
Participants will undergo some or all of the following procedures:
- Plasma evaluation. Apolipoproteins (plasma proteins involved in metabolism of cholesterol, triglycerides, phospholipids, and proteins in the blood) and enzymes involved in lipid metabolism are measured....
Read the detailed description
The lipoprotein transport system is vital to the delivery of the hydrophobic fats that are carried in the aqueous environment of the blood. The lipoprotein particles that comprise this system are polydisperse and contain triglycerides, free and esterified cholesterol, phospholipids and proteins. Inborn errors in the lipoprotein transport system lead to alterations in both the steady state concentrations of the various lipoproteins and in the metabolism of these particles. These inborn errors lead to both hyperlipoproteinemia and hypolipoproteinemia. Profound changes in the ambient lipoprotein concentrations have a variety of clinical manifestations. The present study protocol is designed to permit a full plasma evaluation of the lipids, lipoproteins and apolipoproteins, in patients with potential genetic defects in these processes. We will use a variety of research plasma assays. These specialized plasma assays are necessary to correctly diagnose and treat patients that present with the more unusual disorders of lipid metabolism; these patients cannot be diagnosed by standard, CLIA- Certified assays and may require tissue or blood cells for diagnosis and adequate treatment. The study population will include patients which are referred to the Lipid Service, Cardiovascular Branch, NHLBI from private care providers, academic institutions or the NHLBI-MDB website, with any of the following potential lipid abnormalities or clinical stigmata associated with dyslipoproteinemias: a) increased plasma levels of cholesterol, triglycerides, HDL-cholesterol or LDL-cholesterol b) decreased plasma concentrations of cholesterol and HDL-cholesterol c) postprandial hyperlipidemia or d) eruptive xanthomas, xanthelasma, tuberous or tendinous xanthomas, or corneal opacities.
- Conditions
- Hypercholesterolemia, Atherosclerosis
- Keywords
- Triglyceride, Phospholipids, Free and Esterfied Cholesterol, Polydisperse, Lipoprotein Transport System, Natural History
- Medical subject headings
- 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 |
|---|---|---|
| Dyslipidemia | Dyslipidemia |
What is being measured
The primary outcome is the main question the study is designed to answer.
permit a full evaluation of the lipoproteins, apolipoproteins, and cellular enzymes and receptors relevant to lipoprotein metabolism in order to accurately diagnose and treat patients with potential genetic defects in these processes
Evaluate Lipids
Measured: 25 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jul 2006 (estimated)
- Study start14 Oct 2003
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 HypercholesterolemiaStudies 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
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
- NCT00353782
- Sponsor's protocol ID
- 030280
- Other IDs
- 03-H-0280
- Status last verified
- 25 Sep 2026
- First submitted
- 18 Jul 2006
- Last updated
- 16 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Iverius PH, Ostlund-Lindqvist AM. Preparation, characterization, and measurement of lipoprotein lipase. Methods Enzymol. 1986;129:691-704. doi: 10.1016/0076-6879(86)29099-0. No abstract available.
PubMed 3523161Santamarina-Fojo S, Brewer HB Jr. The familial hyperchylomicronemia syndrome. New insights into underlying genetic defects. JAMA. 1991 Feb 20;265(7):904-8. No abstract available.
PubMed 1992190Chait A, Iverius PH, Brunzell JD. Lipoprotein lipase secretion by human monocyte-derived macrophages. J Clin Invest. 1982 Feb;69(2):490-3. doi: 10.1172/jci110473.
PubMed 7056857