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. Identifier: NCT00950118
Recruitment Status : Recruiting
First Posted : July 31, 2009
Last Update Posted : January 29, 2018
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Institutes of Health (NIH)
Information provided by (Responsible Party):
Wendy K. Chung, Columbia University

July 29, 2009
July 31, 2009
January 29, 2018
June 2005
November 2025   (Final data collection date for primary outcome measure)
Percentage of patients with a genetic diagnosis [ Time Frame: 5 years ]
DNA samples from patients will be analyzed for underlying genetic causes.
  • survival [ Time Frame: 2 years ]
  • development [ Time Frame: 2 years ]
Complete list of historical versions of study NCT00950118 on Archive Site
  • 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
  • growth [ Time Frame: 2 years ]
  • pulmonary hypertension [ Time Frame: 2 years ]
Not Provided
Not Provided
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

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.

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.

Observational Model: Case-Only
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
whole blood, tissue, saliva
Probability Sample

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

Congenital Diaphragmatic Hernia
Not Provided
  • Congenital Diaphragmatic Hernia (CDH)
    Humans affected with congenital diaphragmatic hernia (CDH)
  • Unaffected
    Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
November 2025
November 2025   (Final data collection date for primary outcome measure)

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
Child, Adult, Older Adult
Contact: Julia Wynn, MS 212-305-6987
Contact: Becca Hernan, MS 212-317-6503
Egypt,   United States
R01HD057036 ( U.S. NIH Grant/Contract )
Not Provided
Plan to Share IPD: Undecided
Wendy K. Chung, Columbia University
Columbia University
  • 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
Columbia University
January 2018