Genetic Analysis of Congenital Diaphragmatic Disorders

Congenital Diaphragmatic Hernia Clinical Trial

Official title:

Genetic Analysis of Congenital Diaphragmatic Disorders

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01243229
• Other study ID #: 35848
• Status: Completed
• Start date: October 2010
• Est. completion date: June 1, 2021

Study information

• Verified date: March 2023
• Source: University of Utah
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 305
• Est. completion date: June 1, 2021
• Est. primary completion date: February 28, 2018
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Diagnosed with a congenital diaphragmatic disorder

Exclusion Criteria:

• none

Related Conditions & MeSH terms

• Congenital Diaphragmatic Disorders
• Congenital Diaphragmatic Eventration
• Congenital Diaphragmatic Hernia
• Congenital Hiatal Hernia
• Diaphragmatic Eventration
• Hernia
• Hernia, Diaphragmatic
• Hernia, Hiatal
• Hernias, Diaphragmatic, Congenital

Locations

Country	Name	City	State
United States	Primary Children's Medical Center	Salt Lake City	Utah
United States	University Hospital	Salt Lake City	Utah

Sponsors (1)

Lead Sponsor	Collaborator
University of Utah

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genes implicated in CDD can be identified by linkage analysis	Using the Utah Population Database, genes implicated in CDD can be identified by linkage analysis	5 years
Secondary	Develop molecular markers that will facilitate accurate diagnosis of CDD and CDH.	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.	5 years