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Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

NCT00950118 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 3000

Last updated 2025-12-12

No results posted yet for this study

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.

Conditions

  • Congenital Diaphragmatic Hernia

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    collaborator NIH

  • National Institutes of Health (NIH)

    collaborator NIH

  • Columbia University

    lead OTHER

Principal Investigators

  • Yufeng Shen, PhD · Columbia University

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2005-06-30
Primary Completion
2026-09-30
Completion
2026-09-30

Countries

  • United States
  • Egypt

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00950118 on ClinicalTrials.gov