Understanding the causes and progression of lipid disorders
Disease Pathogenesis and Natural History of Lipid Disorders
This study is trying to understand what causes lipid disorders, like high cholesterol, by looking at people's blood fat levels and genetics to improve how we diagnose and treat these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2000 (estimated) |
| Ages | 2 Years to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00353782 on ClinicalTrials.gov |
What this trial studies
This observational study evaluates individuals with dyslipidemias, which are disorders affecting fat content in the blood, particularly focusing on cholesterol and triglycerides. Participants will undergo various medical tests to assess their lipid profiles and related conditions, such as hypercholesterolemia and atherosclerosis. The study aims to identify genetic defects and other abnormalities in the lipoprotein transport system that may contribute to these disorders. By utilizing specialized plasma assays, the research seeks to improve diagnosis and treatment for patients with unusual lipid metabolism disorders.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 2 years and older with specific lipid abnormalities or clinical signs of dyslipidemia.
Not a fit: Patients under 2 years of age or those without lipid disorders may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better diagnostic methods and treatment options for patients with lipid disorders.
How similar studies have performed: Other studies have shown success in understanding lipid disorders, but this approach may provide novel insights into genetic factors affecting lipid metabolism.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: * Children \>= 2 years of age and \>12 kg and adults * Dyslipidemia subjects of interest the group 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. * 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Robert D Shamburek, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
- Study coordinator: Robert D Shamburek, M.D.
- Email: bobs@mail.nih.gov
- Phone: (301) 496-3460
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.