NCT00037778

Brief Summary

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

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
3,459

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Sep 2001

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 1, 2001

Completed
9 months until next milestone

First Submitted

Initial submission to the registry

May 20, 2002

Completed
1 day until next milestone

First Posted

Study publicly available on registry

May 21, 2002

Completed
10.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2013

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2013

Completed
Last Updated

August 31, 2016

Status Verified

August 1, 2016

Enrollment Period

11.4 years

First QC Date

May 20, 2002

Last Update Submit

August 29, 2016

Conditions

Lung DiseasesCystic Fibrosis

Outcome Measures

Primary Outcomes (1)

  • Variation among genes in siblings with cystic fibrosis as assessed by DNA

    Single collection

Eligibility Criteria

AgeUp to 100 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Siblings with cystic fibrosis

You may qualify if:

  • Diagnosis of CF

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Johns Hopkins University

Baltimore, Maryland, 21287, United States

Location

Related Publications (4)

  • 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. doi: 10.1001/jama.290.3.360.

    PMID: 12865377BACKGROUND

  • 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. doi: 10.1086/381001. Epub 2003 Dec 18.

    PMID: 14685937BACKGROUND

  • Boyle MP. Nonclassic cystic fibrosis and CFTR-related diseases. Curr Opin Pulm Med. 2003 Nov;9(6):498-503. doi: 10.1097/00063198-200311000-00009.

    PMID: 14534402BACKGROUND

  • 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. doi: 10.1073/pnas.0400182101. Epub 2004 Mar 1.

    PMID: 14993601BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Lung DiseasesCystic Fibrosis

Condition Hierarchy (Ancestors)

Respiratory Tract DiseasesPancreatic DiseasesDigestive System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesInfant, Newborn, Diseases

Study Officials

  • Garry Cutting

    Johns Hopkins University

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 20, 2002

First Posted

May 21, 2002

Study Start

September 1, 2001

Primary Completion

February 1, 2013

Study Completion

February 1, 2013

Last Updated

August 31, 2016

Record last verified: 2016-08

Locations

US(1)