Genetic Analysis of Congenital Diaphragmatic Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2014 by University of Utah
Sponsor:
Information provided by:
University of Utah
ClinicalTrials.gov Identifier:
NCT01243229
First received: November 16, 2010
Last updated: June 16, 2014
Last verified: June 2014

November 16, 2010
June 16, 2014
October 2010
October 2015   (final data collection date for primary outcome measure)
Genes implicated in CDD can be identified by linkage analysis [ Time Frame: 5 years ] [ Designated as safety issue: No ]
Using the Utah Population Database, genes implicated in CDD can be identified by linkage analysis
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Complete list of historical versions of study NCT01243229 on ClinicalTrials.gov Archive Site
Develop molecular markers that will facilitate accurate diagnosis of CDD and CDH. [ Time Frame: 5 years ] [ Designated as safety issue: No ]
Develop molecular markers that will facilitate accurate diagnosis (including prenatal diagnosis) and permit correlation of phenotypic variation with specific mutations by localizing the gene(s) for CDH to specific chromosomal segments using linkage analysis in familial cases. In sporadic cases, characterize the role of somatic mutations in CDDs by using a candidate gene approach, and comparative genomic hybridization (CGH) arrays.
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Genetic Analysis of Congenital Diaphragmatic Disorders
Genetic Analysis of Congenital Diaphragmatic Disorders

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:

  1. 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).
  2. Localize the gene(s) for CDD to specific chromosomal segments using linkage analysis, and determine the role of somatic mutations in CDD.
  3. Isolate and characterize genes involved in the pathogenesis of CDD.
  4. Develop molecular markers that will facilitate accurate diagnosis (including prenatal diagnosis) and permit correlation of phenotypic variation with specific mutations.
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Observational
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Retention:   Samples With DNA
Description:

Blood or buccal swabs

Non-Probability Sample

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

  • Congenital Diaphragmatic Hernia
  • Congenital Diaphragmatic Eventration
  • Congenital Hiatal Hernia
  • Congenital Diaphragmatic Disorders
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
400
October 2016
October 2015   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Diagnosed with a congenital diaphragmatic disorder

Exclusion Criteria:

  • none
Both
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Yes
Contact: Shawna Baker, RN 801-581-6737 shawna.baker@hsc.utah.edu
United States
 
NCT01243229
35848
No
Luca Brunelli, MD, University of Utah School of Medicine
University of Utah
Not Provided
Principal Investigator: Luca Brunelli, MD University of Utah
University of Utah
June 2014

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