Clinical trial Recruiting at 12 sites Observational

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 typeObservational
SexAll
Enrollment3000 (estimated)
SponsorColumbia University
Academic / other
Locations14 sites (Chicago, Illinois and 13 other locations)
StatusRecruiting
StartedJune 2005
Main results expectedSeptember 2027
Study endsSeptember 2027
Registry record updatedOctober 5, 2026
Trial IDNCT00950118 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

  • 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
  • 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.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.