NCT00950118 Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
| NCT ID | NCT00950118 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Columbia University |
| Condition | Congenital Diaphragmatic Hernia |
| Study Type | OBSERVATIONAL |
| Enrollment | 3,000 participants |
| Start Date | 2005-06 |
| Primary Completion | 2026-09 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 3,000 participants in total. It began in 2005-06 with a primary completion date of 2026-09.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility 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
Contact & Investigator
Anah Kim Hetzler
✉ ak3578@columbia.eduYufeng Shen, PhD
PRINCIPAL INVESTIGATOR
Columbia University
Frequently Asked Questions
Who can join the NCT00950118 clinical trial?
This trial is open to participants of all sexes, studying Congenital Diaphragmatic Hernia. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT00950118 currently recruiting?
Yes, NCT00950118 is actively recruiting participants. Contact the research team at ak3578@columbia.edu for enrollment information.
Where is the NCT00950118 trial being conducted?
This trial is being conducted at Chicago, United States, Ann Arbor, United States, St Louis, United States, Omaha, United States and 10 additional locations.
Who is sponsoring the NCT00950118 clinical trial?
NCT00950118 is sponsored by Columbia University. The principal investigator is Yufeng Shen, PhD at Columbia University. The trial plans to enroll 3,000 participants.