Cardiovascular DiseasesNCT00006295
Molecular & Clinical Evaluation of Low HDL Syndromes
An observational study of Cardiovascular Diseases and Heart Diseases, run by University of Maryland, Baltimore.
Trial summary
To study the genetic cause of low HDL-C, a risk factor for premature atherosclerotic vascular disease in patients with normal total cholesterol. The focus is primarily on the identification of a single mutation, as has been demonstrated in one family. Read more about this study
- Who is it for?
- Ages Up to 100 years, men only
- Conditions the study is for
- Cardiovascular Diseases, Heart Diseases, Atherosclerosis
- How many people
- 370 participants
- Where
- No sites listed yet
- Study dates
- Aug 2000to Jul 2006
- 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 Up to 100 years
- Men only
- No healthy volunteers
- Child, Adult, Older adult
No eligibility criteria
About this study
To study the genetic cause of low HDL-C, a risk factor for premature atherosclerotic vascular disease in patients with normal total cholesterol. The focus is primarily on the identification of a single mutation, as has been demonstrated in one family.
Read the detailed description
BACKGROUND:
Low levels of high density lipoprotein cholesterol (HDL-C) have been found to be associated with an increased risk for coronary artery disease (CAD). However, the genetic basis for this association is not well understood and the clinical implications of this association have not been extensively addressed. The study, in seeking to elucidate the genetic basis for low HDL-C and examine the clinical implications of low HDL-C, focuses upon an important research topic.
DESIGN NARRATIVE:
Specific aims of the study include: 1) Collection and characterization of plasma and DNA from probands with very low HDL-C. Linkage analysis will be performed using highly polymorphic markers within or near HDL-C candidate genes. The hypothesis to be tested is that polymorphic microsatellites segregate with the low HDL-C phenotype.
- Further genetic characterization of families evidence of linkage to specific HDL-C candidate genes identified in Specific Aim 1. The hypothesis to be tested is that structural variants in HDL-C candidates are responsible for low HDL-C.
- Evaluate the physiologic significance of novel genomic variants identified in Specific Aim 2. The hypothesis to be tested is that structural variants will affect expression of the gene product.
- Examine early atherosclerosis in low HDL-C syndromes. The hypothesis to be tested is that increased carotid intima-medial thickness is prevalent with isolated low HDL-C.
- Conditions
- Cardiovascular Diseases, Heart Diseases, Atherosclerosis
- Medical subject headings
- Cardiovascular Diseases, Heart Diseases, Atherosclerosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Pedigree 1 | Not described | |
| Pedigree 2 | Not described | |
| Pedigree 3 | Not described | |
| Pedigree 4 | Not described | |
| Pedigree 5 | Not described | |
| Pedigree 6 | Not described | |
| Pedigree 7 | Not described | |
| Pedigree 8 | Not described | |
| Pedigree 9 | Not described | |
| Pedigree 10 | Not described | |
| Pedigree 11 | Not described | |
| Pedigree 12 | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Gene discovery
Measured: 20 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Sep 2000 (estimated)
- Study startAug 2000
- Primary completionJul 2006
- Study completionJul 2006
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (10)Papers the sponsor has linked to this study.
- Other trials for Cardiovascular DiseasesStudies of the same condition, open and under way.
- More trials run by University of Maryland, BaltimoreThe 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
- Time perspective
- Prospective
- Enrolment
- 370 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Maryland, Baltimore
- Sponsor type
- University, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Principal investigator, Michael Miller, University of Maryland, Baltimore
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00006295
- Sponsor's protocol ID
- 912
- Other IDs
- R01HL061369
- Status last verified
- Jan 2020
- First submitted
- 25 Sep 2000
- Last updated
- 14 Jan 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Hong SH, Riley W, Rhyne J, Friel G, Miller M. Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T. Clin Chem. 2002 Nov;48(11):2066-70.
PubMed 12407001Hong SH, Rhyne J, Zeller K, Miller M. ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. Atherosclerosis. 2002 Oct;164(2):245-50. doi: 10.1016/s0021-9150(02)00106-5.
PubMed 12204794Ho Hong S, Rhyne J, Zeller K, Miller M. Novel ABCA1 compound variant associated with HDL cholesterol deficiency. Biochim Biophys Acta. 2002 May 21;1587(1):60-4. doi: 10.1016/s0925-4439(02)00066-2.
PubMed 12009425Miller M, Zhan M, Georgopoulos A. Effect of desirable fasting triglycerides on the postprandial response to dietary fat. J Investig Med. 2003 Feb;51(1):50-5. doi: 10.2310/6650.2003.33544.
PubMed 12580321Friend M, Vucenik I, Miller M. Research pointers: Platelet responsiveness to aspirin in patients with hyperlipidaemia. BMJ. 2003 Jan 11;326(7380):82-3. doi: 10.1136/bmj.326.7380.82. No abstract available.
PubMed 12521973Miller M. Niacin as a component of combination therapy for dyslipidemia. Mayo Clin Proc. 2003 Jun;78(6):735-42. doi: 10.4065/78.6.735.
PubMed 12934785Miller M, Zhan M. Genetic determinants of low high-density lipoprotein cholesterol. Curr Opin Cardiol. 2004 Jul;19(4):380-4. doi: 10.1097/01.hco.0000126584.12520.b5.
PubMed 15218400Hong SH, Rhyne J, Miller M. Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease. Circ Res. 2003 Nov 14;93(10):1006-12. doi: 10.1161/01.RES.0000102957.84247.8F. Epub 2003 Oct 23.
PubMed 14576201Ahmad I, Zhan M, Miller M. High prevalence of C-reactive protein elevation with normal triglycerides (100-149 mg/dL): are triglyceride levels below 100 mg/dL more optimal in coronary heart disease risk assessment? Am J Med Sci. 2005 Apr;329(4):173-7. doi: 10.1097/00000441-200504000-00002.
PubMed 15832099Miller M, Zhan M, Havas S. High attributable risk of elevated C-reactive protein level to conventional coronary heart disease risk factors: the Third National Health and Nutrition Examination Survey. Arch Intern Med. 2005 Oct 10;165(18):2063-8. doi: 10.1001/archinte.165.18.2063.
PubMed 16216995
Study at a glance
From the registry record, last updated by the sponsor on 14 Jan 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Molecular & Clinical Evaluation of Low HDL Syndromes
- ClinicalTrials.gov ID
- NCT00006295
- Acronym / sponsor ID
- 912
- Conditions
- Cardiovascular Diseases, Heart Diseases, Atherosclerosis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 370 participants (estimated)
- Lead sponsor
- University of Maryland, BaltimoreUniversity, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- Aug 2000
- Primary completion
- Jul 2006 (actual)
- Study completion
- Jul 2006 (actual)
- First posted
- 26 Sep 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 study the genetic cause of low HDL-C, a risk factor for premature atherosclerotic vascular disease in patients with normal total cholesterol. The focus is primarily on the identification of a single mutation, as has been demonstrated in one family.
Detailed description
BACKGROUND:
Low levels of high density lipoprotein cholesterol (HDL-C) have been found to be associated with an increased risk for coronary artery disease (CAD). However, the genetic basis for this association is not well understood and the clinical implications of this association have not been extensively addressed. The study, in seeking to elucidate the genetic basis for low HDL-C and examine the clinical implications of low HDL-C, focuses upon an important research topic.
DESIGN NARRATIVE:
Specific aims of the study include: 1) Collection and characterization of plasma and DNA from probands with very low HDL-C. Linkage analysis will be performed using highly polymorphic markers within or near HDL-C candidate genes. The hypothesis to be tested is that polymorphic microsatellites segregate with the low HDL-C phenotype.
- Further genetic characterization of families evidence of linkage to specific HDL-C candidate genes identified in Specific Aim 1. The hypothesis to be tested is that structural variants in HDL-C candidates are responsible for low HDL-C.
- Evaluate the physiologic significance of novel genomic variants identified in Specific Aim 2. The hypothesis to be tested is that structural variants will affect expression of the gene product.
- Examine early atherosclerosis in low HDL-C syndromes. The hypothesis to be tested is that increased carotid intima-medial thickness is prevalent with isolated low HDL-C.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 12
| Arm | Type | Receives |
|---|---|---|
| Pedigree 1 | – | – |
| Pedigree 2 | – | – |
| Pedigree 3 | – | – |
| Pedigree 4 | – | – |
| Pedigree 5 | – | – |
| Pedigree 6 | – | – |
| Pedigree 7 | – | – |
| Pedigree 8 | – | – |
| Pedigree 9 | – | – |
| Pedigree 10 | – | – |
| Pedigree 11 | – | – |
| Pedigree 12 | – | – |
Who may qualify
- Ages
- Up to 100 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
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
Gene discovery
Time frame: 20 years
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 14 Jan 2020.
- Background: PubMed 12407001Hong SH, Riley W, Rhyne J, Friel G, Miller M. Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T. Clin Chem. 2002 Nov;48(11):2066-70.
- Background: PubMed 12204794Hong SH, Rhyne J, Zeller K, Miller M. ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. Atherosclerosis. 2002 Oct;164(2):245-50. doi: 10.1016/s0021-9150(02)00106-5.
- Background: PubMed 12009425Ho Hong S, Rhyne J, Zeller K, Miller M. Novel ABCA1 compound variant associated with HDL cholesterol deficiency. Biochim Biophys Acta. 2002 May 21;1587(1):60-4. doi: 10.1016/s0925-4439(02)00066-2.
- Background: PubMed 12580321Miller M, Zhan M, Georgopoulos A. Effect of desirable fasting triglycerides on the postprandial response to dietary fat. J Investig Med. 2003 Feb;51(1):50-5. doi: 10.2310/6650.2003.33544.
- Background: PubMed 12521973Friend M, Vucenik I, Miller M. Research pointers: Platelet responsiveness to aspirin in patients with hyperlipidaemia. BMJ. 2003 Jan 11;326(7380):82-3. doi: 10.1136/bmj.326.7380.82. No abstract available.
- Background: PubMed 12934785Miller M. Niacin as a component of combination therapy for dyslipidemia. Mayo Clin Proc. 2003 Jun;78(6):735-42. doi: 10.4065/78.6.735.
- Background: PubMed 15218400Miller M, Zhan M. Genetic determinants of low high-density lipoprotein cholesterol. Curr Opin Cardiol. 2004 Jul;19(4):380-4. doi: 10.1097/01.hco.0000126584.12520.b5.
- Background: PubMed 14576201Hong SH, Rhyne J, Miller M. Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease. Circ Res. 2003 Nov 14;93(10):1006-12. doi: 10.1161/01.RES.0000102957.84247.8F. Epub 2003 Oct 23.
- Background: PubMed 15832099Ahmad I, Zhan M, Miller M. High prevalence of C-reactive protein elevation with normal triglycerides (100-149 mg/dL): are triglyceride levels below 100 mg/dL more optimal in coronary heart disease risk assessment? Am J Med Sci. 2005 Apr;329(4):173-7. doi: 10.1097/00000441-200504000-00002.
- Background: PubMed 16216995Miller M, Zhan M, Havas S. High attributable risk of elevated C-reactive protein level to conventional coronary heart disease risk factors: the Third National Health and Nutrition Examination Survey. Arch Intern Med. 2005 Oct 10;165(18):2063-8. doi: 10.1001/archinte.165.18.2063.
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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.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Cardiovascular Diseases and Heart Diseases, run by University of Maryland, Baltimore.
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 14 Jan 2020. 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?
Gene discovery (time frame: 20 years). 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 NCT00006295, which also lists 10 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 14 Jan 2020.