Genetic Analysis of Congenital Diaphragmatic Disorders

Completed

• Conditions: Congenital Diaphragmatic Hernia; Congenital Diaphragmatic Eventration; Congenital Hiatal Hernia; Congenital Diaphragmatic Disorders

• Registration Number: NCT01243229
• Lead Sponsor: University of Utah

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:

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.

5. Compare RNA-sequencing from tissue samples of children without CDH to those children with CDH.

Detailed Description

Not available

Study Timeline

• Study Start: 2010-10
• Study First Submitted: 2010-11-16
• Study First Submitted QC: 2010-11-17
• Study First Posted: 2010-11-18
• Primary Completion: 2018-02-28
• Study Completion: 2021-06-01
• Status Verified: 2023-03
• Last Update Submitted: 2023-03-31
• Last Update Posted: 2023-04-03

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 305

Inclusion Criteria

• Diagnosed with a congenital diaphragmatic disorder

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Exclusion Criteria

• none

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Genes implicated in CDD can be identified by linkage analysis	5 years	Using the Utah Population Database, genes implicated in CDD can be identified by linkage analysis

Secondary Outcome Measures

Name	Time	Method
Develop molecular markers that will facilitate accurate diagnosis of CDD and CDH.	5 years	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.

Trial Locations

Locations (2)

University Hospital; 🇺🇸 Salt Lake City, Utah, United States

Primary Children's Medical Center; 🇺🇸 Salt Lake City, Utah, United States