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Completed

NCT Number: NCT01243229

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

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Key information

Conditions

Congenital Diaphragmatic Hernia Congenital Abnormalities Congenital Diaphragmatic Disorders Congenital Diaphragmatic Eventration Congenital Hiatal Hernia Congenital, Hereditary, and Neonatal Diseases and Abnormalities Hernia Hernia, Diaphragmatic Hernias, Diaphragmatic, Congenital Internal Hernia Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

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

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Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Diagnosed with a congenital diaphragmatic disorder

Exclusion criteria

  • none

Treatment and study plan

Primary outcomes

  1. Genes implicated in CDD can be identified by linkage analysis

    Time frame: 5 years

    Using the Utah Population Database, genes implicated in CDD can be identified by linkage analysis

Secondary outcomes

  1. Develop molecular markers that will facilitate accurate diagnosis of CDD and CDH.

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

University of Utah

Other

Registry information

Important dates

Study start
2010
Primary completion
2018
Study completion
2021
First posted
Nov 18, 2010
Registry last updated
Apr 3, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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