An observational study in Lung Diseases and Cystic Fibrosis, sponsored by Johns Hopkins University. Completed at 1 site in United States. Open to participants aged Up to 100 Years. Per ClinicalTrials.gov, last updated 2016-08-31.
Sponsored by Johns Hopkins University · Observational
The purpose of this study is to identify modifier genes in cystic fibrosis (CF).
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 genes/loci 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.
1,581 studies on the registry are indexed under Cystic Fibrosis; 190 are open to participants now.
This study's enrollment of 3,459 is above the median of 85 across 482 observational studies indexed under Cystic Fibrosis.
Browse Cystic Fibrosis studies →Johns Hopkins University is the lead sponsor of 1,783 studies on the registry; 313 are open to participants now.
Of its 203 completed or terminated interventional studies of FDA-regulated products, 140 (69%) have results posted.
Counted across the registry records on this site, refreshed daily.
Siblings with cystic fibrosis
Inclusion Criteria:
Variation among genes in siblings with cystic fibrosis as assessed by DNA
Time frame: Single collection
This study is completed, as verified in Aug 2016. You cannot join it, but the record below documents what was studied.
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Johns Hopkins University