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Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia

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ClinicalTrials.gov Identifier: NCT00005313
Recruitment Status : Completed
First Posted : May 26, 2000
Last Update Posted : December 11, 2014
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
John Brunzell, University of Washington

Brief Summary:
To conduct focused studies of lipoprotein physiology and pathophysiology in genetically characterized patients with the objectives of understanding disease mechanisms, developing better treatments, and identifying and preventing early vascular disease.

Condition or disease
Atherosclerosis Cardiovascular Diseases Heart Diseases Hypercholesterolemia Hyperlipidemia, Familial Combined

Detailed Description:


Premature vascular disease in young hyperlipidemic subjects remains a major unsolved health problem in terms of pathogenesis and treatment. Research advances have led to new markers for genetic analysis, new methods for studying lipoprotein metabolism and atherosclerotic disease progression and regression, and reference values for diagnosing hyperlipidemia.


Attention is focused on the molecular, genetic and pathophysiological basis of the inherited dyslipoproteinemias associated with premature coronary artery disease with particular reference to familial combined hyperlipidemia, familial moderate hypercholesterolemia, familial elevation of Lp(a) and the carrier state for homocysteinemia. Coordinated studies of characterization of the pathophysiological state, the identification of possible molecular biological defects and the evaluation of these results in families by statistical genetic techniques are performed in each disorder. The role of protein mediated intravascular modification of lipoproteins and the role of oxidation of lipoproteins in each disorder will lead to characterization of these genetic lipoprotein abnormalities. The study is a subproject within a program project grant.

The subproject on the genetics of familial combined hyperlipidemia (FCHL) was renewed in 1999 through 2010 to continue mapping the apoB elevating gene l(BEL) level using a genomic search in pedigrees with familial combined hyperlipidemia. The major focus of the genetic analyses are the 15 FCHL families under the BEL segregation analysis model in a power analysis. These families also show the most evidence for segregation at an apoB elevating gene locus. Genotyping for a 10 centimorgan genomic scan has been completed for these families.

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Study Type : Observational
Actual Enrollment : 450 participants
Observational Model: Family-Based
Official Title: Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia
Study Start Date : April 2001
Actual Primary Completion Date : March 2003
Actual Study Completion Date : March 2003

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Family Issues

Primary Outcome Measures :
  1. No outcome measures for this research [ Time Frame: 1980-2003 ]
    Analysis of Familial Data

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Relatives of patients with familial combined hyperlipidemia
All participants related to a patient with familial combined hyperlipidemia

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00005313

Sponsors and Collaborators
University of Washington
National Heart, Lung, and Blood Institute (NHLBI)
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Principal Investigator: John Brunzell University of Washington

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Responsible Party: John Brunzell, Professor Emeritus, Active, Medicine/Division of Metabolism, University of Washington
ClinicalTrials.gov Identifier: NCT00005313    
Other Study ID Numbers: 10927-B
P01HL030086 ( U.S. NIH Grant/Contract )
First Posted: May 26, 2000    Key Record Dates
Last Update Posted: December 11, 2014
Last Verified: December 2014
Additional relevant MeSH terms:
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Cardiovascular Diseases
Heart Diseases
Hyperlipidemia, Familial Combined
Arterial Occlusive Diseases
Vascular Diseases
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn