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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
  Purpose
The purpose of this study is to identify modifier genes in cystic fibrosis (CF).

Condition
Lung Diseases
Cystic Fibrosis

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Retrospective
Official Title: Genetic Modifiers of Cystic Fibrosis: Sibling Study

Resource links provided by NLM:


Further study details as provided by Johns Hopkins University:

Primary Outcome Measures:
  • Variation among genes in siblings with cystic fibrosis as assessed by DNA [ Time Frame: Single collection ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA
Blood samples

Enrollment: 3459
Study Start Date: September 2001
Study Completion Date: February 2013
Primary Completion Date: February 2013 (Final data collection date for primary outcome measure)
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 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.

  Eligibility

Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Siblings with cystic fibrosis
Criteria

Inclusion Criteria:

  • Diagnosis of CF
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00037778

Locations
United States, Maryland
Johns Hopkins University
Baltimore, Maryland, United States, 21287
Sponsors and Collaborators
Johns Hopkins University
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
Principal Investigator: Garry Cutting Johns Hopkins University
  More Information

Publications:
Responsible Party: Johns Hopkins University
ClinicalTrials.gov Identifier: NCT00037778     History of Changes
Other Study ID Numbers: 1178  R01HL068927 
Study First Received: May 20, 2002
Last Updated: August 29, 2016
Health Authority: United States: Federal Government

Additional relevant MeSH terms:
Fibrosis
Cystic Fibrosis
Lung Diseases
Pathologic Processes
Pancreatic Diseases
Digestive System Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases

ClinicalTrials.gov processed this record on September 30, 2016