Cystic Fibrosis Clinical Trial
Official title:
Genetic Modifiers of Cystic Fibrosis: Sibling Study
Verified date | August 2016 |
Source | Johns Hopkins University |
Contact | n/a |
Is FDA regulated | No |
Health authority | United States: Federal Government |
Study type | Observational |
The purpose of this study is to identify modifier genes in cystic fibrosis (CF).
Status | Completed |
Enrollment | 3459 |
Est. completion date | February 2013 |
Est. primary completion date | February 2013 |
Accepts healthy volunteers | No |
Gender | Both |
Age group | N/A to 100 Years |
Eligibility |
Inclusion Criteria: - Diagnosis of CF |
Observational Model: Family-Based, Time Perspective: Retrospective
Country | Name | City | State |
---|---|---|---|
United States | Johns Hopkins University | Baltimore | Maryland |
Lead Sponsor | Collaborator |
---|---|
Johns Hopkins University | National Heart, Lung, and Blood Institute (NHLBI) |
United States,
Boyle MP. Nonclassic cystic fibrosis and CFTR-related diseases. Curr Opin Pulm Med. 2003 Nov;9(6):498-503. Review. — View Citation
Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet. 2004 Jan;74(1):176-9. Epub 2003 Dec 18. — View Citation
Hefferon TW, Groman JD, Yurk CE, Cutting GR. A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. Proc Natl Acad Sci U S A. 2004 Mar 9;101(10):3504-9. Epub 2004 Mar 1. — View Citation
McWilliams R, Hoover-Fong J, Hamosh A, Beck S, Beaty T, Cutting G. Problematic variation in local institutional review of a multicenter genetic epidemiology study. JAMA. 2003 Jul 16;290(3):360-6. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Variation among genes in siblings with cystic fibrosis as assessed by DNA | Single collection | No |
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