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Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

Columbia University · with Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH) · NCT00950118

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Any age listed · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
3000
US sites recruiting
11
Study start
June 2005
Record last updated
October 5, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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.

Conditions: Congenital Diaphragmatic Hernia

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full 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

Recruiting US locations

  • Rush Hospital

    Chicago, IL 60612

    Site contact: Mindy Li, MD

  • University of Michigan/ CS Mott Children's Hospital

    Ann Arbor, MI 48167-5245

    Site contact: George Mychalisa, MD, MS · 734-763-2072 · mychalis@med.umich.edu

  • Washington University Medical Center/ St. Louis Children's Hospital

    St Louis, MO 63110

    Site contact: Jessica Conway · jessicaconway@wustl.edu

  • Children's Hospital of Omaha/ University of Nebraska

    Omaha, NE 68114

    Site contact: Sheila Horak, APRN · shorak@childrensomaha.org

  • Northwell Health

    Manhasset, NY 11030

    Site contact: Samuel Soffer, MD · ssoffer@nhsh.edu

  • New York University, Hassenfeld Children's Hospital at NYU Langone Health

    New York, NY 10016

    Site contact: Barbara Coons · Barbara.Coons@nyulangone.org

  • Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center)

    New York, NY 10032

    Site contact: Anah Kim Hetzler · 212-342-4622 · ak3578@columbia.edu

  • Cincinnati Children's Hospital and Medical Center/ University of Cincinnati

    Cincinnati, OH 45229

    Site contact: Trish Burns, BSN · 513-803-0745 · trish.burns@cchmc.org

  • Oregon Health & Science University, Doernbecher Children's Hospital

    Portland, OR 97239

    Site contact: Andrew Mason · masoned@ohsu.edu

  • Children's Hospital of Pittsburgh/ University of Pittsburgh

    Pittsburgh, PA 15213

    Site contact: Min Shi, BSN · 412-692-7440 · shim@upmc.edu

  • UT Southwestern Medical Center, Children's Health, Dallas

    Dallas, TX 75235

    Site contact: David Schindel, MD · 214-456-6040 · David.Schindel@childrens.com

Study contacts (from the official record)

  • Anah Kim Hetzler · ak3578@columbia.edu
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Diaphragmatic Hernia Research & Exploration, Advancing Molecular… (NCT00950118) | Bored Studies