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

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2016 by Columbia University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
Wendy K. Chung, Columbia University Identifier:
First received: July 29, 2009
Last updated: June 10, 2016
Last verified: June 2016

July 29, 2009
June 10, 2016
June 2005
November 2020   (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.
  • Percentage of patients with normal development and delayed at 2 years and 5 years of age [ Time Frame: 5 years ]
    development will be assessed by formal developmental assessments
  • Percentage of survivors to 5 years of age [ Time Frame: 5 years ]
    survival to discharge from the NICU will be recorded and all survivors will be tracked until 5 years of age
  • survival [ Time Frame: 2 years ]
  • development [ Time Frame: 2 years ]
Complete list of historical versions of study NCT00950118 on Archive Site
  • Percentage of patients with normal weight at 5 years of age [ Time Frame: 5 years ]
  • Percentage of patients with pulmonary hypertension at 2 years of age [ Time Frame: 2 years ]
  • growth [ Time Frame: 2 years ]
  • pulmonary hypertension [ Time Frame: 2 years ]
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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
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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 2020
November 2020   (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, Senior
Contact: Julia Wynn, MS 212-305-6987
Contact: Wendy Chung, MD, PhD 212-305-6731
United States,   Egypt
R01HD057036 ( US NIH Grant/Contract Award Number )
Not Provided
Not Provided
Wendy K. Chung, Columbia University
Columbia University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Principal Investigator: Wendy Chung, MD, PhD Columbia University
Columbia University
June 2016

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP