Ignite Creation Date:
2024-05-05 @ 11:25 AM
Last Modification Date:
2024-10-26 @ 9:07 AM
Study NCT ID:
NCT00037778
Status:
COMPLETED
Last Update Posted:
2016-08-31
First Post:
2002-05-20
Brief Title:
Genetic Modifiers of Cystic Fibrosis Sibling Study
Sponsor:
Johns Hopkins University
Organization:
Johns Hopkins University
Study Overview
Official Title:
Genetic Modifiers of Cystic Fibrosis Sibling Study
Status:
COMPLETED
Status Verified Date:
2016-08
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:
The purpose of this study is to identify modifier genes in cystic fibrosis CF
Detailed Description:
BACKGROUND
CF is a highly variable but inevitably fatal single gene disorder Several lines of evidence suggest that genetic background contributes to the variability of cystic fibrosis phenotypes The study will develop CF as a model for the identification of modifier genes by capitalizing on the availability of a large motivated population of affected twins and siblings
The study is in response to a Request for Applications titled Genetic Modifiers of Single Gene Defect Diseases released in August 2000 and co-sponsored by the National Institute of Diabetes Digestive and Kidney Diseases
DESIGN NARRATIVE
The study has four aims 1 To identify heritable CF phenotypes by twin study Intrapair and interpair variance will be determined for selected CF phenotypes and interclass correlations monozygotic versus dizygotic will be performed to identify CF phenotypes with a substantial heritable component 2 To determine the contribution of genetic and other factors to the variability of CF phenotypes by analysis of affected sibs Variance component methods will be used to evaluate the CF phenotypes that appear to be heritable based upon other studies or the results of aim 1 3 To identify biologic phenotypes that correlate with heritable CF phenotypes by clinical study of twins and sibs Multivariate analysis will be used to find biologic phenotypes associated with CF phenotypes 4 To identify modifier genes and loci responsible for heritable CF phenotypes by linkage approaches Identity by descent and transmission disequilibrium methods will be used to test linkage between candidate genesloci and heritable CF phenotypes To identify novel loci genome-wide scans will be performed upon sib pairs selected for extreme concordance or discordance for heritable traits
CF is a highly variable but inevitably fatal single gene disorder Several lines of evidence suggest that genetic background contributes to the variability of cystic fibrosis phenotypes The study will develop CF as a model for the identification of modifier genes by capitalizing on the availability of a large motivated population of affected twins and siblings
The study is in response to a Request for Applications titled Genetic Modifiers of Single Gene Defect Diseases released in August 2000 and co-sponsored by the National Institute of Diabetes Digestive and Kidney Diseases
DESIGN NARRATIVE
The study has four aims 1 To identify heritable CF phenotypes by twin study Intrapair and interpair variance will be determined for selected CF phenotypes and interclass correlations monozygotic versus dizygotic will be performed to identify CF phenotypes with a substantial heritable component 2 To determine the contribution of genetic and other factors to the variability of CF phenotypes by analysis of affected sibs Variance component methods will be used to evaluate the CF phenotypes that appear to be heritable based upon other studies or the results of aim 1 3 To identify biologic phenotypes that correlate with heritable CF phenotypes by clinical study of twins and sibs Multivariate analysis will be used to find biologic phenotypes associated with CF phenotypes 4 To identify modifier genes and loci responsible for heritable CF phenotypes by linkage approaches Identity by descent and transmission disequilibrium methods will be used to test linkage between candidate genesloci and heritable CF phenotypes To identify novel loci genome-wide scans will be performed upon sib pairs selected for extreme concordance or discordance for heritable traits
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
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 |
|---|---|---|---|
| R01HL068927 | NIH | None | httpsreporternihgovquickSearchR01HL068927 |