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Genetic Modifiers of Cystic Fibrosis: Sibling Study

This study has been completed.
Sponsor:
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Johns Hopkins University
ClinicalTrials.gov Identifier:
NCT00037778
First received: May 20, 2002
Last updated: August 29, 2016
Last verified: August 2016

May 20, 2002
August 29, 2016
September 2001
February 2013   (final data collection date for primary outcome measure)
Variation among genes in siblings with cystic fibrosis as assessed by DNA [ Time Frame: Single collection ] [ Designated as safety issue: No ]
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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: Family-Based
Time Perspective: Retrospective
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Retention:   Samples With DNA
Description:
Blood samples
Probability Sample
Siblings with cystic fibrosis
  • 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
3459
February 2013
February 2013   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Diagnosis of CF
Both
up to 100 Years   (Child, Adult, Senior)
No
Contact information is only displayed when the study is recruiting subjects
United States
 
NCT00037778
1178, R01HL068927
No
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Johns Hopkins University
Johns Hopkins University
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Garry Cutting Johns Hopkins University
Johns Hopkins University
August 2016

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