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Study identifier: NCT00950118 Synced from ClinicalTrials.gov · July 28, 2026
● Recruiting

Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

Condition: Congenital Diaphragmatic Hernia  ·  Sponsor: Columbia University

PhaseN/A
Planned participants3000
Who can joinAll sexes, N/A to no upper limit
Healthy volunteersYes

About this study

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 geneti…

This description comes directly from the study's public registry record.

Talk to the study team

Anah Kim Hetzler  ·  ak3578@columbia.edu

Always discuss trial participation with your own doctor first.

Locations (14)

Rush HospitalChicago, Illinois, United StatesRecruiting
University of Michigan/ CS Mott Children's HospitalAnn Arbor, Michigan, United StatesRecruiting
Washington University Medical Center/ St. Louis Children's HospitalSt Louis, Missouri, United StatesRecruiting
Children's Hospital of Omaha/ University of NebraskaOmaha, Nebraska, United StatesRecruiting
Northwell HealthManhasset, New York, United StatesRecruiting
New York University, Hassenfeld Children's Hospital at NYU Langone HealthNew York, New York, United StatesRecruiting
Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center)New York, New York, United StatesRecruiting
Cincinnati Children's Hospital and Medical Center/ University of CincinnatiCincinnati, Ohio, United StatesRecruiting
Oregon Health & Science University, Doernbecher Children's HospitalPortland, Oregon, United StatesRecruiting
Children's Hospital of Pittsburgh/ University of PittsburghPittsburgh, Pennsylvania, United StatesRecruiting
Monroe Carrell Jr Children's Hospital at VanderbiltNashville, Tennessee, United StatesCompleted
UT Southwestern Medical Center, Children's Health, DallasDallas, Texas, United StatesRecruiting

+ 2 more locations — full list on the registry record.

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Source record: clinicaltrials.gov/study/NCT00950118