Identifying genes linked to congenital diaphragmatic hernia

Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

Observational Columbia University · NCT00950118

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
Enrollment3000 (estimated)
SexAll
SponsorColumbia University Academic / other
Locations14 sites (Chicago, Illinois and 13 other locations)
Trial IDNCT00950118 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include individuals with congenital diaphragmatic hernia or those with a family history of the condition.

Not a fit: Patients without a personal or family history of congenital diaphragmatic hernia may not benefit from this study.

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 performed: Other studies have shown promise in identifying genetic factors related to congenital anomalies, suggesting potential success for this approach.

Eligibility criteria

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 this trial is running

Chicago, Illinois and 13 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Congenital Diaphragmatic HerniaGenesGeneticGenetic testingexome sequencinggenome sequencingRNAseq
Last reviewed 2026-06-13 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.