Ignite Creation Date:
2024-05-05 @ 11:19 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00006295
Status:
COMPLETED
Last Update Posted:
2020-01-14
First Post:
2000-09-25
Brief Title:
Molecular Clinical Evaluation of Low HDL Syndromes
Sponsor:
University of Maryland Baltimore
Organization:
University of Maryland Baltimore
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2020-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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
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
2 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
3 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
4 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
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
2 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
3 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
4 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| R01HL061369 | NIH | None | httpsreporternihgovquickSearchR01HL061369 |