Genetic Modifiers of Cystic Fibrosis: Sibling Study

This study has been completed.
Sponsor:
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier:
NCT00037778
First received: May 20, 2002
Last updated: April 26, 2012
Last verified: April 2012

May 20, 2002
April 26, 2012
September 2001
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Complete list of historical versions of study NCT00037778 on ClinicalTrials.gov Archive Site
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Genetic Modifiers of Cystic Fibrosis: Sibling Study
Genetic Modifiers of Cystic Fibrosis: Sibling Study

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.

Observational
Observational Model: Cohort
Time Perspective: Prospective
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  • Lung Diseases
  • Cystic Fibrosis
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
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August 2006
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Inclusion Criteria:

  • Diagnosis of CF
Both
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No
Contact information is only displayed when the study is recruiting subjects
United States
 
NCT00037778
1178, R01 HL68927
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National Heart, Lung, and Blood Institute (NHLBI)
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Principal Investigator: Gary Cutting Johns Hopkins University
National Heart, Lung, and Blood Institute (NHLBI)
April 2012

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP