Genetic Analysis of Congenital Diaphragmatic Disorders

This study is currently recruiting participants.

Verified December 2012 by University of Utah

Sponsor:

Information provided by:

University of Utah

ClinicalTrials.gov Identifier:

NCT01243229

First received: November 16, 2010

Last updated: December 10, 2012

Last verified: December 2012

History of Changes

Tracking Information

First Received Date ^ICMJE

November 16, 2010

Last Updated Date

December 10, 2012

Start Date ^ICMJE

October 2010

Estimated Primary Completion Date

October 2015 (final data collection date for primary outcome measure)

Current Primary Outcome Measures ^ICMJE

Not Provided

Original Primary Outcome Measures ^ICMJE

Not Provided

Change History

Complete list of historical versions of study NCT01243229 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

Not Provided

Original Secondary Outcome Measures ^ICMJE

Not Provided

Current Other Outcome Measures ^ICMJE

Not Provided

Original Other Outcome Measures ^ICMJE

Not Provided

Descriptive Information

Brief Title ^ICMJE

Genetic Analysis of Congenital Diaphragmatic Disorders

Official Title ^ICMJE

Genetic Analysis of Congenital Diaphragmatic Disorders

Brief Summary

The purpose of this study is to understand the genetic causes of congenital diaphragmatic disorders (CDD), namely congenital diaphragmatic hernia (CDH), eventration and hiatal hernia.

Specifically, the investigators plan to:

Ascertain informative families and sporadic cases with congenital diaphragmatic disorders and obtain appropriate phenotypic data and genetic material (peripheral blood and/or diaphragm tissue sample).
Localize the gene(s) for CDD to specific chromosomal segments using linkage analysis, and determine the role of somatic mutations in CDD.
Isolate and characterize genes involved in the pathogenesis of CDD.
Develop molecular markers that will facilitate accurate diagnosis (including prenatal diagnosis) and permit correlation of phenotypic variation with specific mutations.

Detailed Description

Not Provided

Study Type ^ICMJE

Observational

Study Design ^ICMJE

Not Provided

Target Follow-Up Duration

Not Provided

Biospecimen

Retention: Samples With DNA

Description:

Blood or buccal swabs

Sampling Method

Non-Probability Sample

Study Population

Newborns, children and adults affected by congenital disorders of the diaphragm, such as congenital diaphragmatic hernia, eventration and hiatal hernia.

Condition ^ICMJE

Congenital Diaphragmatic Hernia
Congenital Diaphragmatic Eventration
Congenital Hiatal Hernia
Congenital Diaphragmatic Disorders

Intervention ^ICMJE

Not Provided

Study Group/Cohort (s)

Not Provided

Publications *

Not Provided

* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.

Recruitment Information

Recruitment Status ^ICMJE

Recruiting

Estimated Enrollment ^ICMJE

400

Estimated Completion Date

October 2016

Estimated Primary Completion Date

October 2015 (final data collection date for primary outcome measure)

Eligibility Criteria ^ICMJE

Inclusion Criteria:

Diagnosed with a congenital diaphragmatic disorder

Exclusion Criteria:

none

Gender

Both

Ages

Not Provided

Accepts Healthy Volunteers

Yes

Contacts ^ICMJE

Contact: Karen Osborne, RN

801-213-3298

karen.osborne@hsc.utah.edu

Location Countries ^ICMJE

United States

Administrative Information

NCT Number ^ICMJE

NCT01243229

Other Study ID Numbers ^ICMJE

35848

Has Data Monitoring Committee

Responsible Party

Luca Brunelli, MD, University of Utah School of Medicine

Study Sponsor ^ICMJE

University of Utah

Collaborators ^ICMJE

Not Provided

Investigators ^ICMJE

Principal Investigator:

Luca Brunelli, MD

University of Utah

Information Provided By

University of Utah

Verification Date

December 2012

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

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