We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00950118
Recruitment Status : Recruiting
First Posted : July 31, 2009
Last Update Posted : November 8, 2022
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Institutes of Health (NIH)
Information provided by (Responsible Party):
Columbia University

Tracking Information
First Submitted Date July 29, 2009
First Posted Date July 31, 2009
Last Update Posted Date November 8, 2022
Study Start Date June 2005
Estimated Primary Completion Date November 2025   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 25, 2018)
Percentage of patients with a genetic diagnosis [ Time Frame: 5 years ]
DNA samples from patients will be analyzed for underlying genetic causes.
Original Primary Outcome Measures
 (submitted: July 30, 2009)
  • survival [ Time Frame: 2 years ]
  • development [ Time Frame: 2 years ]
Change History
Current Secondary Outcome Measures
 (submitted: January 25, 2018)
  • 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
  • Percentage of patients with pulmonary hypertension [ Time Frame: 5 years ]
    pulmonary hypertension measured by echocardiogram
Original Secondary Outcome Measures
 (submitted: July 30, 2009)
  • growth [ Time Frame: 2 years ]
  • pulmonary hypertension [ Time Frame: 2 years ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
Official Title Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
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.

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
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
whole blood, tissue, saliva
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

Condition Congenital Diaphragmatic Hernia
Intervention Not Provided
Study Groups/Cohorts
  • Congenital Diaphragmatic Hernia (CDH)
    Humans affected with congenital diaphragmatic hernia (CDH)
  • Unaffected
    Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: September 16, 2020)
Original Estimated Enrollment
 (submitted: July 30, 2009)
Estimated Study Completion Date November 2025
Estimated Primary Completion Date November 2025   (Final data collection date for primary outcome measure)
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
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contact: Julia Wynn, MS 212-305-6987 jw2500@columbia.edu
Contact: Becca Hernan, MS 212-317-6503 rh2813@cumc.columbia.edu
Listed Location Countries Egypt,   United States
Removed Location Countries  
Administrative Information
NCT Number NCT00950118
Other Study ID Numbers AAAB2063
R01HD057036 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Current Responsible Party Columbia University
Original Responsible Party Wendy Chung, MD, PhD, Columbia University
Current Study Sponsor Columbia University
Original Study Sponsor Same as current
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  • National Institutes of Health (NIH)
Principal Investigator: Wendy Chung, MD, PhD Columbia University
PRS Account Columbia University
Verification Date November 2022