Understanding the causes and progression of lipid disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* INCLUSION CRITERIA:
* 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.
* 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.

EXCLUSION CRITERIA

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.

Where it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.