AtherosclerosisNCT00005313
Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia
An observational study of Atherosclerosis and Cardiovascular Diseases, run by University of Washington.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Atherosclerosis, Cardiovascular Diseases, Heart Diseases
- How many people
- 450 participants
- Where
- No sites listed yet
- Study dates
- Apr 2001to Mar 2003
- Phase
- Observational
- Are there results?
- None posted in the registry
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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Relatives of patients with familial combined hyperlipidemia
All participants related to a patient with familial combined hyperlipidemia
About this study
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.
Read the detailed description
BACKGROUND:
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.
DESIGN NARRATIVE:
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.
- Conditions
- Atherosclerosis, Cardiovascular Diseases, Heart Diseases, Hypercholesterolemia, Hyperlipidemia, Familial Combined
- Medical subject headings
- Atherosclerosis, Cardiovascular Diseases, Heart Diseases, Hypercholesterolemia, Hyperlipidemia, Familial Combined
What is being measured
The primary outcome is the main question the study is designed to answer.
No outcome measures for this research
Analysis of Familial Data
Measured: 1980-2003
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 May 2000 (estimated)
- Study startApr 2001
- Primary completionMar 2003
- Study completionMar 2003
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (66)Papers the sponsor has linked to this study.
- Other trials for AtherosclerosisStudies of the same condition, open and under way.
- More trials run by University of WashingtonThe 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
- Family based
- Enrolment
- 450 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Washington
- Sponsor type
- University, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Principal investigator, John Brunzell, University of Washington
- Investigators
- John Brunzell, Principal investigator, University of Washington
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00005313
- Sponsor's protocol ID
- 10927-B
- Other IDs
- P01HL030086
- Status last verified
- Dec 2014
- First submitted
- 25 May 2000
- Last updated
- 11 Dec 2014
- Results posted
- No
- Data monitoring committee
- No
Publications
Brunzell JD. Are all obese patients at risk for cardiovascular disease? Int J Obes. 1984;8(5):571-8. No abstract available.
PubMed 6394526Brunzell JD, Sniderman AD, Albers JJ, Kwiterovich PO Jr. Apoproteins B and A-I and coronary artery disease in humans. Arteriosclerosis. 1984 Mar-Apr;4(2):79-83. doi: 10.1161/01.atv.4.2.79. No abstract available.
PubMed 6422918Iverius PH, Brunzell JD. Human adipose tissue lipoprotein lipase: changes with feeding and relation to postheparin plasma enzyme. Am J Physiol. 1985 Jul;249(1 Pt 1):E107-14. doi: 10.1152/ajpendo.1985.249.1.E107.
PubMed 4014455Iverius PH, Brunzell JD. Chylomicronemia induced by cimetidine. Gastroenterology. 1985 Sep;89(3):664-6. doi: 10.1016/0016-5085(85)90466-4.
PubMed 4018506Iverius PH, Brunzell JD. Obesity and common genetic metabolic disorders. Ann Intern Med. 1985 Dec;103(6 ( Pt 2)):1050-1. doi: 10.7326/0003-4819-103-6-1050.
PubMed 4062124Foster DM, Chait A, Albers JJ, Failor RA, Harris C, Brunzell JD. Evidence for kinetic heterogeneity among human low density lipoproteins. Metabolism. 1986 Aug;35(8):685-96. doi: 10.1016/0026-0495(86)90235-0.
PubMed 3736409Chait A, Foster DM, Albers JJ, Failor RA, Brunzell JD. Low density lipoprotein metabolism in familial combined hyperlipidemia and familial hypercholesterolemia: kinetic analysis using an integrated model. Metabolism. 1986 Aug;35(8):697-704. doi: 10.1016/0026-0495(86)90236-2.
PubMed 3736410Angelin B, Hershon KS, Brunzell JD. Bile acid metabolism in hereditary forms of hypertriglyceridemia: evidence for an increased synthesis rate in monogenic familial hypertriglyceridemia. Proc Natl Acad Sci U S A. 1987 Aug;84(15):5434-8. doi: 10.1073/pnas.84.15.5434.
PubMed 3474660Auwerx JH, Deeb S, Brunzell JD, Peng R, Chait A. Transcriptional activation of the lipoprotein lipase and apolipoprotein E genes accompanies differentiation in some human macrophage-like cell lines. Biochemistry. 1988 Apr 19;27(8):2651-5. doi: 10.1021/bi00408a003.
PubMed 3401441Iverius PH, Brunzell JD. Relationship between lipoprotein lipase activity and plasma sex steroid level in obese women. J Clin Invest. 1988 Sep;82(3):1106-12. doi: 10.1172/JCI113667.
PubMed 3417867White JR, Chait A, Klebanoff SJ, Deeb S, Brunzell JD. Bacterial lipopolysaccharide reduces macrophage lipoprotein lipase levels: an effect that is independent of tumor necrosis factor. J Lipid Res. 1988 Oct;29(10):1379-85.
PubMed 3235920Auwerx JH, Marzetta CA, Hokanson JE, Brunzell JD. Large buoyant LDL-like particles in hepatic lipase deficiency. Arteriosclerosis. 1989 May-Jun;9(3):319-25. doi: 10.1161/01.atv.9.3.319.
PubMed 2719594Babirak SP, Iverius PH, Fujimoto WY, Brunzell JD. Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis. 1989 May-Jun;9(3):326-34. doi: 10.1161/01.atv.9.3.326.
PubMed 2719595Auwerx JH, Deeb S, Brunzell JD, Wolfbauer G, Chait A. Lipoprotein lipase gene expression in THP-1 cells. Biochemistry. 1989 May 30;28(11):4563-7. doi: 10.1021/bi00437a009.
PubMed 2765502Marzetta CA, Foster DM, Brunzell JD. Relationships between LDL density and kinetic heterogeneity in subjects with normolipidemia and familial combined hyperlipidemia using density gradient ultracentrifugation. J Lipid Res. 1989 Sep;30(9):1307-17.
PubMed 2600538
Study at a glance
From the registry record, last updated by the sponsor on 11 Dec 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia
- ClinicalTrials.gov ID
- NCT00005313
- Acronym / sponsor ID
- 10927-B
- Conditions
- Atherosclerosis, Cardiovascular Diseases, Heart Diseases, Hypercholesterolemia, Hyperlipidemia, Familial Combined
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 450 participants (actual)
- Lead sponsor
- University of WashingtonUniversity, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- Apr 2001
- Primary completion
- Mar 2003 (actual)
- Study completion
- Mar 2003 (actual)
- First posted
- 26 May 2000 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
BACKGROUND:
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.
DESIGN NARRATIVE:
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.
Study design
- Observational model
- Family based
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Relatives of patients with familial combined hyperlipidemia
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
No outcome measures for this research
Time frame: 1980-2003
Analysis of Familial Data
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Dec 2014.
- Background: PubMed 6394526Brunzell JD. Are all obese patients at risk for cardiovascular disease? Int J Obes. 1984;8(5):571-8. No abstract available.
- Background: PubMed 6422918Brunzell JD, Sniderman AD, Albers JJ, Kwiterovich PO Jr. Apoproteins B and A-I and coronary artery disease in humans. Arteriosclerosis. 1984 Mar-Apr;4(2):79-83. doi: 10.1161/01.atv.4.2.79. No abstract available.
- Background: PubMed 4014455Iverius PH, Brunzell JD. Human adipose tissue lipoprotein lipase: changes with feeding and relation to postheparin plasma enzyme. Am J Physiol. 1985 Jul;249(1 Pt 1):E107-14. doi: 10.1152/ajpendo.1985.249.1.E107.
- Background: PubMed 4018506Iverius PH, Brunzell JD. Chylomicronemia induced by cimetidine. Gastroenterology. 1985 Sep;89(3):664-6. doi: 10.1016/0016-5085(85)90466-4.
- Background: PubMed 4062124Iverius PH, Brunzell JD. Obesity and common genetic metabolic disorders. Ann Intern Med. 1985 Dec;103(6 ( Pt 2)):1050-1. doi: 10.7326/0003-4819-103-6-1050.
- Background: PubMed 3736409Foster DM, Chait A, Albers JJ, Failor RA, Harris C, Brunzell JD. Evidence for kinetic heterogeneity among human low density lipoproteins. Metabolism. 1986 Aug;35(8):685-96. doi: 10.1016/0026-0495(86)90235-0.
- Background: PubMed 3736410Chait A, Foster DM, Albers JJ, Failor RA, Brunzell JD. Low density lipoprotein metabolism in familial combined hyperlipidemia and familial hypercholesterolemia: kinetic analysis using an integrated model. Metabolism. 1986 Aug;35(8):697-704. doi: 10.1016/0026-0495(86)90236-2.
- Background: PubMed 3474660Angelin B, Hershon KS, Brunzell JD. Bile acid metabolism in hereditary forms of hypertriglyceridemia: evidence for an increased synthesis rate in monogenic familial hypertriglyceridemia. Proc Natl Acad Sci U S A. 1987 Aug;84(15):5434-8. doi: 10.1073/pnas.84.15.5434.
- Background: PubMed 3401441Auwerx JH, Deeb S, Brunzell JD, Peng R, Chait A. Transcriptional activation of the lipoprotein lipase and apolipoprotein E genes accompanies differentiation in some human macrophage-like cell lines. Biochemistry. 1988 Apr 19;27(8):2651-5. doi: 10.1021/bi00408a003.
- Background: PubMed 3417867Iverius PH, Brunzell JD. Relationship between lipoprotein lipase activity and plasma sex steroid level in obese women. J Clin Invest. 1988 Sep;82(3):1106-12. doi: 10.1172/JCI113667.
- Background: PubMed 3235920White JR, Chait A, Klebanoff SJ, Deeb S, Brunzell JD. Bacterial lipopolysaccharide reduces macrophage lipoprotein lipase levels: an effect that is independent of tumor necrosis factor. J Lipid Res. 1988 Oct;29(10):1379-85.
- Background: PubMed 2719594Auwerx JH, Marzetta CA, Hokanson JE, Brunzell JD. Large buoyant LDL-like particles in hepatic lipase deficiency. Arteriosclerosis. 1989 May-Jun;9(3):319-25. doi: 10.1161/01.atv.9.3.319.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
John Brunzell principal investigator
University of Washington
Questions about this trial
What is this clinical trial studying?
An observational study of Atherosclerosis and Cardiovascular Diseases, run by University of Washington.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 11 Dec 2014. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
No outcome measures for this research (time frame: 1980-2003). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00005313, which also lists 66 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Dec 2014.