Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science (DHREAMS)

November 4, 2022 updated by: Columbia University

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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

Congenital diaphragmatic hernia (CDH) is a birth defect that occurs when the diaphragm (thin sheet of muscle that separates the abdomen from the chest) does not form properly. When an opening is present in the diaphragm, organs that are normally in the abdomen can be pushed (herniated) through the opening and be present in the chest. Currently little is known about why this birth defect occurs.

Through this study ""Molecular Genetic Analysis of Congenital Diaphragmatic Hernia" the investigators hope to learn more about whether certain genes contribute to CDH. Genes are the instructions or blueprints for our bodies. They tell our bodies how to grow and develop. Sometimes when a mistake occurs in one or more of our genes our body does not develop properly and this can lead to a CDH. The investigators hope that the information gained through studying the genes of children with CDH and their parents, will lead to significant advances in the diagnosis, prognosis, prevention, and treatment of this disease.

Study Type

Observational

Enrollment (Anticipated)

3000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Egypt
      • Cairo, Egypt
        • Recruiting
        • Cairo University Hospital
        • Contact:
        • Principal Investigator:
          • Mahmoud Elfiky, MD
  • United States
    • Illinois
      • Chicago, Illinois, United States
        • Recruiting
        • Rush Hospital
        • Contact:
          • Mindy Li, MD
        • Contact:
          • Alexa Hart, MS, CGC
    • Michigan
      • Ann Arbor, Michigan, United States, 48167-5245
        • Recruiting
        • University of Michigan/ CS Mott Children's Hospital
        • Contact:
        • Contact:
        • Principal Investigator:
          • George Mychalisa, MD, MS
    • Missouri
      • Saint Louis, Missouri, United States, 63110
        • Recruiting
        • Washington University Medical Center/ St. Louis Children's Hospital
        • Contact:
        • Principal Investigator:
          • Brad Warner, MD
    • Nebraska
      • Omaha, Nebraska, United States, 68114
        • Recruiting
        • Children's Hospital of Omaha/ University of Nebraska
        • Principal Investigator:
          • Brad Warner, MD
        • Contact:
        • Contact:
    • New York
      • Manhasset, New York, United States, 11030
        • Recruiting
        • Northwell Health
        • Contact:
        • Principal Investigator:
          • Samuel Soffer, MD
      • New York, New York, United States, 10032
        • Recruiting
        • Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center)
        • Contact:
        • Contact:
        • Principal Investigator:
          • Wendy Chung, MD, PhD
        • Principal Investigator:
          • Marc Arkovitz, MD
      • New York, New York, United States
        • Recruiting
        • New York University, Hassenfeld Children's Hospital at NYU Langone Health
        • Contact:
          • Jason Fisher, MD
        • Contact:
          • Elizabeth Jehle
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Recruiting
        • Cincinnati Children's Hospital and Medical Center/ University of Cincinnati
        • Contact:
        • Principal Investigator:
          • Foong Yen Lim, MD
    • Oregon
      • Portland, Oregon, United States, 97239
        • Recruiting
        • Oregon Health & Science University, Doernbecher Children's Hospital
        • Contact:
        • Contact:
    • Pennsylvania
      • Pittsburgh, Pennsylvania, United States, 15213
        • Completed
        • Children's Hospital of Pittsburgh/ University of Pittsburgh
    • Tennessee
      • Nashville, Tennessee, United States, 37232
        • Recruiting
        • Monroe Carrell Jr Children's Hospital at Vanderbilt
        • Contact:
        • Contact:
        • Principal Investigator:
          • Dai H Chung, MD
    • Texas
      • Dallas, Texas, United States, 75235
        • Recruiting
        • UT Southwestern Medical Center, Children's Health, Dallas
        • Contact:
    • Wisconsin
      • Milwaukee, Wisconsin, United States, 53226
        • Completed
        • Medical College of Wisconsin

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.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Children/neonates with an unrepaired congenital diaphragmatic hernia

Children/neonates with a reparied congenital diaphragmatic hernia

Women who are pregnant with a fetus diagnosed with congenital diaphragmatic hernia

Individuals with a family history of congenital diaphragmatic hernia

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Unaffected
Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)
Congenital Diaphragmatic Hernia (CDH)
Humans affected with congenital diaphragmatic hernia (CDH)

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Percentage of patients with a genetic diagnosis
Time Frame: 5 years
DNA samples from patients will be analyzed for underlying genetic causes.
5 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Developmental outcomes at 2 and 5 years of age
Time Frame: 1 exam at 2 year and 1 exam at 5 years
Formal Developmental outcome measures
1 exam at 2 year and 1 exam at 5 years
Percentage of patients with pulmonary hypertension
Time Frame: 5 years
pulmonary hypertension measured by echocardiogram
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Columbia University

Collaborators

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

Investigators

  • Principal Investigator: Wendy Chung, MD, PhD, Columbia University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

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 Major Dates

Study Start

June 1, 2005

Primary Completion (ANTICIPATED)

November 1, 2025

Study Completion (ANTICIPATED)

November 1, 2025

Study Registration Dates

First Submitted

July 29, 2009

First Submitted That Met QC Criteria

July 30, 2009

First Posted (ESTIMATE)

July 31, 2009

Study Record Updates

Last Update Posted (ACTUAL)

November 8, 2022

Last Update Submitted That Met QC Criteria

November 4, 2022

Last Verified

November 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • AAAB2063
  • R01HD057036 (NIH)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Congenital Diaphragmatic Hernia

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Senegal

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe