Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

Recruiting now

Conditions studied: Congenital Diaphragmatic Hernia

In brief

The goal of this study is to identify genes that convey susceptibility to congenital diaphragmatic hernia in humans. The identification of such genes, and examination of their structure and function, will enable a delineation of molecular pathogenesis and, ultimately, prevention or treatment of congenital diaphragmatic hernia. There are many different possible modes of inheritance for congenital anomalies, including autosomal dominant, autosomal recessive, and multifactorial. Multi-factorial inheritance is responsible for many common medical disorders, including hypertension, myocardial infarction, diabetes and cancer. This type of inheritance pattern appears to involve environmental factors as well as a combination of genetic variations that together can predispose to or produce congenital anomalies, such as congenital diaphragmatic hernia. Our study is designed to establish a small, well-defined genetic resource consisting of 1) Nuclear families suitable for linkage analysis by parametric,non-parametric (e.g. sib pairs, TDT) and association techniques, 2) Individuals with congenital diaphragmatic hernia who can be directly screened for allelic variation in candidate genes, and 3) Individuals who can serve as controls (are unaffected by congenital diaphragmatic hernia). Neonates and their families will be collected from homogenous and heterogeneous populations. By characterizing diverse populations, it should be possible to increase the likelihood of demonstration of genetic variation in selected candidate genes that can then be used in association and linkage studies in individual subjects with congenital diaphragmatic hernia.

Key facts

Study ID

NCT00950118

Run by

Columbia University

People needed

3000

Starts

2005-06-01

Expected to finish

2026-09-01

Last updated by the study team

2025-12-12

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of a CDH

You may not qualify if…

• Individuals with no personal history of a CDH or family history of a family member affected with congenital diaphragmatic hernia

Where it is running

• Cairo University Hospital — Cairo, Egypt (enrolling)
• University of Michigan/ CS Mott Children's Hospital — Ann Arbor, Michigan, United States (enrolling)
• Washington University Medical Center/ St. Louis Children's Hospital — St Louis, Missouri, United States (enrolling)
• Children's Hospital of Omaha/ University of Nebraska — Omaha, Nebraska, United States (enrolling)
• Northwell Health — Manhasset, New York, United States (enrolling)
• New York University, Hassenfeld Children's Hospital at NYU Langone Health — New York, New York, United States (enrolling)
• Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center) — New York, New York, United States (enrolling)
• Cincinnati Children's Hospital and Medical Center/ University of Cincinnati — Cincinnati, Ohio, United States (enrolling)
• Oregon Health & Science University, Doernbecher Children's Hospital — Portland, Oregon, United States (enrolling)
• Children's Hospital of Pittsburgh/ University of Pittsburgh — Pittsburgh, Pennsylvania, United States (enrolling)
• UT Southwestern Medical Center, Children's Health, Dallas — Dallas, Texas, United States (enrolling)
• Rush Hospital — Chicago, Illinois, United States (enrolling)
• Monroe Carrell Jr Children's Hospital at Vanderbilt — Nashville, Tennessee, United States
• Medical College of Wisconsin — Milwaukee, Wisconsin, United States

Full record on ClinicalTrials.gov

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