Genetic causes of congenital diaphragmatic hernia.
Julia Wynn, Lan Yu, Wendy K Chung
https://pubmed.ncbi.nlm.nih.gov/25447988Actively Recruiting
All Genders
Healthy Volunteers
ID00950118
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
Led by Columbia University · Updated on 2025-12-12
3000
Participants Needed
14
Research Sites
N/A
Total Duration
On this page
Sponsors
C
Columbia University
Lead Sponsor
E
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Congenital diaphragmatic hernia (CDH) is a birth defect where the diaphragm does not form correctly, causing abdominal organs to move into the chest. This research aims to find genes that increase the risk of CDH. By understanding the genetic causes and how they work, the study hopes to improve diagnosis, prevention, and treatment of CDH. The study includes different inheritance patterns and looks at both genetic and environmental factors. The study collects and analyzes DNA from three groups: families suitable for genetic linkage analysis, individuals affected with CDH, and healthy individuals without CDH. Participants include neonates and their families from various populations. Researchers use genetic techniques to identify variations in candidate genes linked to CDH. Participants will have their genetic information studied and be followed for developmental outcomes at ages 2 and 5 years, as well as monitoring the presence of pulmonary hypertension. The main goal is to determine the percentage of patients with a genetic diagnosis over five years. This observational study involves no treatment but focuses on genetic and clinical evaluations over time.
CONDITIONS
Brief Title
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
Who Can Participate
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Individuals affected with congenital diaphragmatic hernia (CDH)
- Individuals with a family history of congenital diaphragmatic hernia (CDH)
You will not qualify if you...
- Individuals with no personal or family history of congenital diaphragmatic hernia (CDH)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Diagnostic Evaluation
Duration - Initial evaluation with follow-up over 5 years
Participants undergo genetic analysis to learn more about the genes contributing to congenital diaphragmatic hernia (CDH).
1 exam at 2 years and 1 exam at 5 years
Long-term Monitoring
Duration - Up to 5 years
Participants are monitored for developmental outcomes and pulmonary hypertension over 5 years.
Periodic assessments over 5 years
Trial Site Locations
Total: 14 locations
1
Rush Hospital
Chicago, Illinois, United States, 60612
Actively Recruiting
2
University of Michigan/ CS Mott Children's Hospital
Ann Arbor, Michigan, United States, 48167-5245
Actively Recruiting
3
Washington University Medical Center/ St. Louis Children's Hospital
St Louis, Missouri, United States, 63110
Actively Recruiting
4
Children's Hospital of Omaha/ University of Nebraska
Omaha, Nebraska, United States, 68114
Actively Recruiting
5
Northwell Health
Manhasset, New York, United States, 11030
Actively Recruiting
6
New York University, Hassenfeld Children's Hospital at NYU Langone Health
New York, New York, United States, 10016
Actively Recruiting
7
Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center)
New York, New York, United States, 10032
Actively Recruiting
8
Cincinnati Children's Hospital and Medical Center/ University of Cincinnati
Cincinnati, Ohio, United States, 45229
Actively Recruiting
9
Oregon Health & Science University, Doernbecher Children's Hospital
Portland, Oregon, United States, 97239
Actively Recruiting
10
Children's Hospital of Pittsburgh/ University of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15213
Actively Recruiting
11
Monroe Carrell Jr Children's Hospital at Vanderbilt
Nashville, Tennessee, United States, 37232
Completed
12
UT Southwestern Medical Center, Children's Health, Dallas
Dallas, Texas, United States, 75235
Actively Recruiting
13
Medical College of Wisconsin
Milwaukee, Wisconsin, United States, 53226
Completed
14
Cairo University Hospital
Cairo, Egypt
Actively Recruiting
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Research Team
A
Anah Kim Hetzler
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
Predictors of low weight and tube feedings in children with congenital diaphragmatic hernia at 1 year of age.
Anne Pierog, Gudrun Aspelund, Christiana Farkouh-Karoleski...
https://pubmed.ncbi.nlm.nih.gov/24918983Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
Lan Yu, James T Bennett, Julia Wynn...
https://pubmed.ncbi.nlm.nih.gov/24385578Developmental outcomes of children with congenital diaphragmatic hernia: a multicenter prospective study.
Julia Wynn, Gudrun Aspelund, Annette Zygmunt...
https://pubmed.ncbi.nlm.nih.gov/24094947Outcomes of congenital diaphragmatic hernia in the modern era of management.
Julia Wynn, Usha Krishnan, Gudrun Aspelund...
https://pubmed.ncbi.nlm.nih.gov/23375362Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia.
Lan Yu, Julia Wynn, Yee Him Cheung...
https://pubmed.ncbi.nlm.nih.gov/23138528De novo copy number variants are associated with congenital diaphragmatic hernia.
Lan Yu, Julia Wynn, Lijiang Ma...
https://pubmed.ncbi.nlm.nih.gov/23054247Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.
Lan Yu, Ashley D Sawle, Julia Wynn...
https://pubmed.ncbi.nlm.nih.gov/26034137The association between congenital diaphragmatic hernia and undescended testes.
Kenneth S Azarow, Robert Cusick, Julia Wynn...
https://pubmed.ncbi.nlm.nih.gov/25783379Congenital diaphragmatic hernias: from genes to mechanisms to therapies.
Gabrielle Kardon, Kate G Ackerman, David J McCulley...
https://pubmed.ncbi.nlm.nih.gov/28768736