Identifying genes linked to congenital diaphragmatic hernia
Official title: Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
Run by Columbia University · NCT00950118 · Data updated 2026-11-12
This study is trying to find out which genes are linked to congenital diaphragmatic hernia to help improve how we diagnose and treat this birth defect.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 3000 (estimated) |
| Sponsor | Columbia University Academic / other |
| Locations | 14 sites (Chicago, Illinois and 13 other locations) |
| Status | Recruiting |
| Started | June 2005 |
| Main results expected | September 2027 |
| Study ends | September 2027 |
| Registry record updated | October 5, 2026 |
| Trial ID | NCT00950118 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals with congenital diaphragmatic hernia or those with a family history of the condition.
✕Probably not a fit
Patients without a personal or family history of congenital diaphragmatic hernia may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study aims to identify genetic factors that contribute to congenital diaphragmatic hernia (CDH), a birth defect where the diaphragm does not form properly. By examining the genes of affected individuals and their families, researchers hope to uncover the molecular mechanisms behind CDH. The study will focus on understanding the inheritance patterns and potential environmental influences that may lead to this condition. Ultimately, the findings could enhance diagnosis, prevention, and treatment strategies for CDH.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for congenital diaphragmatic hernia.
How similar studies have gone: Other studies have shown promise in identifying genetic factors related to congenital anomalies, suggesting potential success for this approach.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of a CDH Exclusion Criteria: * Individuals with no personal history of a CDH or family history of a family member affected with congenital diaphragmatic hernia
Where it's running
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Rush Hospital
Chicago, Illinois, United States Recruiting -
University of Michigan/ CS Mott Children's Hospital
Ann Arbor, Michigan, United States Recruiting -
Washington University Medical Center/ St. Louis Children's Hospital
St Louis, Missouri, United States Recruiting -
Children's Hospital of Omaha/ University of Nebraska
Omaha, Nebraska, United States Recruiting -
Northwell Health
Manhasset, New York, United States Recruiting -
New York University, Hassenfeld Children's Hospital at NYU Langone Health
New York, New York, United States Recruiting
Show 8 more locations
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Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center)
New York, New York, United States Recruiting -
Cincinnati Children's Hospital and Medical Center/ University of Cincinnati
Cincinnati, Ohio, United States Recruiting -
Oregon Health & Science University, Doernbecher Children's Hospital
Portland, Oregon, United States Recruiting -
Children's Hospital of Pittsburgh/ University of Pittsburgh
Pittsburgh, Pennsylvania, United States Recruiting -
UT Southwestern Medical Center, Children's Health, Dallas
Dallas, Texas, United States Recruiting -
Cairo University Hospital
Cairo, Egypt Recruiting -
Monroe Carrell Jr Children's Hospital at Vanderbilt
Nashville, Tennessee, United States Completed -
Medical College of Wisconsin
Milwaukee, Wisconsin, United States Completed
Study contacts
- Principal investigator: Yufeng Shen, PhD — Columbia University
- Study coordinator: Anah Kim Hetzler
- Email: ak3578@columbia.edu
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Melatonin plus inhaled nitric oxide for pulmonary hypertension in full-term newborns
This study tests whether adding melatonin to inhaled nitric oxide helps treat pulmonary hypertension in full-term neonates.
-
FETO with a Goldballoon device for fetuses with diaphragmatic hernia
This study tests whether performing Fetoscopic Endoluminal Tracheal Occlusion on pregnancies with fetal diaphragmatic hernia improves baby survival and reduces long-term problems.
-
Fetal tracheal occlusion (FETO) for severe congenital diaphragmatic hernia
This trial will test whether fetal endoluminal tracheal occlusion (FETO) helps fetuses with severe congenital diaphragmatic hernia and intrathoracic liver herniation survive to hospital discharge.
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Long-term outcomes after FETO for severe left or right congenital diaphragmatic hernia
This trial will test whether performing FETO in fetuses with isolated severe left or right CDH helps more babies survive to hospital discharge and have fewer long-term problems than standard care.
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Fetal treatment for congenital diaphragmatic hernia
This study is testing a new way to treat congenital diaphragmatic hernia in unborn babies by placing a balloon in their airway to help their lungs grow before they are born.
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Fetoscopic balloon (FETO) for severe left and right congenital diaphragmatic hernia — long-term outcomes
This trial will try placing and later removing a tiny balloon in the fetal windpipe around 27–29 weeks to help babies with severe congenital diaphragmatic hernia and liver herniation survive the newborn period.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.