RECRUITING

Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

Quick Facts

Study Start:2005-06
Study Completion:2025-11
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT00950118

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of a CDH
  1. * Individuals with no personal history of a CDH or family history of a family member affected with congenital diaphragmatic hernia

Contacts and Locations

Study Contact

Anah Kim Hetzler
CONTACT
ak3578@columbia.edu

Principal Investigator

Yufeng Shen, PhD
PRINCIPAL_INVESTIGATOR
Columbia University

Study Locations (Sites)

Rush Hospital
Chicago, Illinois
United States
University of Michigan/ CS Mott Children's Hospital
Ann Arbor, Michigan, 48167-5245
United States
Washington University Medical Center/ St. Louis Children's Hospital
Saint Louis, Missouri, 63110
United States
Children's Hospital of Omaha/ University of Nebraska
Omaha, Nebraska, 68114
United States
Northwell Health
Manhasset, New York, 11030
United States
Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center)
New York, New York, 10032
United States
New York University, Hassenfeld Children's Hospital at NYU Langone Health
New York, New York
United States
Cincinnati Children's Hospital and Medical Center/ University of Cincinnati
Cincinnati, Ohio, 45229
United States
Oregon Health & Science University, Doernbecher Children's Hospital
Portland, Oregon, 97239
United States
Children's Hospital of Pittsburgh/ University of Pittsburgh
Pittsburgh, Pennsylvania, 15213
United States
Monroe Carrell Jr Children's Hospital at Vanderbilt
Nashville, Tennessee, 37232
United States
UT Southwestern Medical Center, Children's Health, Dallas
Dallas, Texas, 75235
United States
Medical College of Wisconsin
Milwaukee, Wisconsin, 53226
United States

Collaborators and Investigators

Sponsor: Columbia University

  • Yufeng Shen, PhD, PRINCIPAL_INVESTIGATOR, Columbia University

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2005-06
Study Completion Date2025-11

Study Record Updates

Study Start Date2005-06
Study Completion Date2025-11

Terms related to this study

Keywords Provided by Researchers

  • Congenital Diaphragmatic Hernia (CDH)
  • Genes
  • Genetic
  • Genetic testing
  • exome sequencing
  • genome sequencing
  • RNAseq

Additional Relevant MeSH Terms

  • Congenital Diaphragmatic Hernia