Ignite Creation Date:
2024-05-05 @ 4:58 PM
Last Modification Date:
2024-10-26 @ 9:26 AM
Study NCT ID:
NCT00353782
Status:
RECRUITING
Last Update Posted:
2024-07-03
First Post:
2006-07-18
Brief Title:
Causes and Natural History of Dyslipidemias
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Disease Pathogenesis and Natural History of Lipid Disorders
Status:
RECRUITING
Status Verified Date:
2024-03-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 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
Plasma cholesterol levels greater than 200 mgdl or less than 120 mgdl
Plasma LDL-C levels greater than 130 mgdl or less than 70 mgdl
Plasma HDL-C levels greater than 70 mgdl or less than 25 mgdl
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
Fat biopsy A small sample of fat tissue is collected for examination For this test an area on the buttock or abdominal wall is numbed A needle is inserted into the fat and a small amount of tissue is sucked out by a syringe
Leukapheresis White blood cells are collected to help diagnose the lipid disorder For this test blood is collected through a needle in an arm vein similar to donating blood The blood circulates through a machine that separates it into its components and the white cells are removed The rest of the blood is returned to the body either through the same needle or through another needle in the other arm
Skin biopsy Skin cells are collected for study The cells are grown in the laboratory and the amount of cholesterol that enters or leaves the cells is measured providing information on abnormalities in cholesterol transport For this test an area of skin is numbed with an anesthetic and a small circular area is removed using a skin punch instrument similar to a sharp cookie cutter
Heparin infusion study Heparin a blood thinner releases enzymes that break down fat in the blood Lipase activity breakdown of fats in the blood is measured following the injection of heparin into a vein
People with lipid disorders are eligible for this study Representative types of patients include those with
Plasma cholesterol levels greater than 200 mgdl or less than 120 mgdl
Plasma LDL-C levels greater than 130 mgdl or less than 70 mgdl
Plasma HDL-C levels greater than 70 mgdl or less than 25 mgdl
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
Fat biopsy A small sample of fat tissue is collected for examination For this test an area on the buttock or abdominal wall is numbed A needle is inserted into the fat and a small amount of tissue is sucked out by a syringe
Leukapheresis White blood cells are collected to help diagnose the lipid disorder For this test blood is collected through a needle in an arm vein similar to donating blood The blood circulates through a machine that separates it into its components and the white cells are removed The rest of the blood is returned to the body either through the same needle or through another needle in the other arm
Skin biopsy Skin cells are collected for study The cells are grown in the laboratory and the amount of cholesterol that enters or leaves the cells is measured providing information on abnormalities in cholesterol transport For this test an area of skin is numbed with an anesthetic and a small circular area is removed using a skin punch instrument similar to a sharp cookie cutter
Heparin infusion study Heparin a blood thinner releases enzymes that break down fat in the blood Lipase activity breakdown of fats in the blood is measured following the injection of heparin into a vein
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 03-H-0280 | None | None | None |