Genetic Analysis of Congenital Diaphragmatic Disorders

Status Completed

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

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

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

See also
Status	Clinical Trial	Phase
Recruiting	`NCT05100693` - Smart Removal for Congenital Diaphragmatic Hernia	N/A
Recruiting	`NCT05450653` - Trial of FETO for Severe Congenital Diaphragmatic Hernia	N/A
Terminated	`NCT04140669` - Automated Myocardial Performance Index Using Samsung HERA W10
Recruiting	`NCT05201144` - A Trial of Phosphodiesterase-5 Inhibitor in Neonatal Congenital Diaphragmatic Hernia (TOP-CDH)	Phase 2
Recruiting	`NCT04429750` - Intact Cord Resuscitation in CDH	N/A
Recruiting	`NCT03750266` - 3D Animation and Models to Aid Management of Fetal CDH
Recruiting	`NCT04583644` - Pilot Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) in Severe Left Congenital Diaphragmatic Hernia (CDH)	N/A
Completed	`NCT03314233` - Delayed Cord Clamping for Congenital Diaphragmatic Hernia	N/A
Recruiting	`NCT04114578` - Exploratory Observational Prospective Study in Neonatal and Pediatric Congenital Diaphragmatic Hernia
Completed	`NCT03666767` - Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries
Recruiting	`NCT02986087` - Feto-Endoscopic Tracheal Occlusion (FETO) for Left Congenital Diaphragmatic Hernia	N/A
Recruiting	`NCT03674372` - Fetoscopic Endoluminal Tracheal Occlusion	N/A
Active, not recruiting	`NCT05839340` - Neurally Adjusted Ventilatory Assist for Neonates With Congenital Diaphragmatic Hernias	N/A
Enrolling by invitation	`NCT05962346` - Fetal Endoscopic Tracheal Occlusion for Congenital Diaphragmatic Hernia	N/A
Withdrawn	`NCT04186039` - Functional Evaluation of the Fetal Lung by Functional Magnetic Resonance Imaging - Blood Oxygenation Level Dependent (MRI-BOLD), in Congenital Diaphragmatic and Parietal Malformations	N/A
Unknown status	`NCT01302977` - Fetal Tracheal Occlusion in Severe Diaphragmatic Hernia: a Randomized Trial	Phase 2
Recruiting	`NCT03179371` - Proteomic Profiling for Congenital Diaphragmatic Hernia
Not yet recruiting	`NCT03138863` - Fetal Endoscopic Tracheal Occlusion for Congenital Diaphragmatic Hernia (FETO)	N/A
Active, not recruiting	`NCT04484441` - Maternal-fetal Immune Responses to Fetal Surgery
Completed	`NCT03787160` - Microbiome and Volatile Organic Compounds in Patients With CDH	N/A