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Genetic Analysis of Congenital Diaphragmatic Disorders

Congenital Diaphragmatic Hernia Clinical Trial

Official title:
Genetic Analysis of Congenital Diaphragmatic Disorders

Clinical Trial 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.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT01243229
Study type Observational
Source University of Utah
Contact
Status Completed
Phase
Start date October 2010
Completion date June 1, 2021
View Details
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