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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

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.

Condition or disease
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
Estimated Enrollment : 2020 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
Study Start Date : June 2005
Estimated Primary Completion Date : November 2025
Estimated Study Completion Date : November 2025

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

Primary Outcome Measures :
  1. Percentage of patients with a genetic diagnosis [ Time Frame: 5 years ]
    DNA samples from patients will be analyzed for underlying genetic causes.

Secondary Outcome Measures :
  1. 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

  2. Percentage of patients with pulmonary hypertension [ Time Frame: 5 years ]
    pulmonary hypertension measured by echocardiogram

Biospecimen Retention:   Samples With DNA
whole blood, tissue, saliva

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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


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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00950118

Contact: Julia Wynn, MS 212-305-6987
Contact: Becca Hernan, MS 212-317-6503

United States, Michigan
University of Michigan/ CS Mott Children's Hospital Recruiting
Ann Arbor, Michigan, United States, 48167-5245
Contact: George Mychalisa, MD, MS    734-763-2072   
Contact: Jeannie Kreutzman, RN, MSN    734-763-2072   
Principal Investigator: George Mychalisa, MD, MS         
United States, Missouri
Washington University Medical Center/ St. Louis Children's Hospital Recruiting
Saint Louis, Missouri, United States, 63110
Contact: Karen Lukas, RN    314-454-6022   
Principal Investigator: Brad Warner, MD         
United States, Nebraska
Children's Hospital of Omaha/ University of Nebraska Recruiting
Omaha, Nebraska, United States, 68114
Contact: Kenneth Azarow, MD    402-955-7400   
Contact: Sheila Horak, APRN   
Principal Investigator: Brad Warner, MD         
United States, New York
North Shore Long Island Jewish Hospital, Schneiders Recruiting
Manhasset, New York, United States, 11030
Contact: Samuel Soffer, MD   
Principal Investigator: Samuel Soffer, MD         
Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center) Recruiting
New York, New York, United States, 10032
Contact: Julia Wynn, MS    212-305-6987   
Contact: Wendy Chung, MD, PhD    212-851-5313   
Principal Investigator: Wendy Chung, MD, PhD         
Principal Investigator: Marc Arkovitz, MD         
United States, Ohio
Cincinnati Children's Hospital and Medical Center/ University of Cincinnati Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Trish Burns, BSN    513-803-0745   
Principal Investigator: Foong Yen Lim, MD         
United States, Oregon
Oregon Health & Science University, Doernbecher Children's Hospital Recruiting
Portland, Oregon, United States, 97239
Contact: Brandy Gonzalez, RN   
Contact: Ken Azarow, MD   
United States, Pennsylvania
Children's Hospital of Pittsburgh/ University of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States, 15213
Contact: Min Shi, BSN    412-692-7440   
Contact: Douglas Potoka, MD   
Principal Investigator: Douglas Potoka, MD         
United States, Tennessee
Monroe Carrell Jr Children's Hospital at Vanderbilt Recruiting
Nashville, Tennessee, United States, 37232
Contact: Dai H Chung, MD    615-936-1050   
Contact: Mary Dabrowiak    615-936-1050    mary.dabrowiak@Vanderbilt.Edu   
Principal Investigator: Dai H Chung, MD         
United States, Texas
UT Southwestern Medical Center, Children's Health, Dallas Recruiting
Dallas, Texas, United States, 75235
Contact: David Schindel, MD    214-456-6040   
United States, Wisconsin
Medical College of Wisconsin Recruiting
Milwaukee, Wisconsin, United States, 53226
Contact: Ruth Swedler, BSN    414-266-6438   
Principal Investigator: Amy Wagner, MD         
Cairo University Hospital Recruiting
Cairo, Egypt
Contact: Mahmoud Elfiky, MD    201001557755   
Principal Investigator: Mahmoud Elfiky, MD         
Sponsors and Collaborators
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

Additional Information:

Responsible Party: Wendy K. Chung, Professor, Department of Pediatrics and Medicine, Columbia University Identifier: NCT00950118     History of Changes
Other Study ID Numbers: AAAB2063
R01HD057036 ( U.S. NIH Grant/Contract )
First Posted: July 31, 2009    Key Record Dates
Last Update Posted: January 29, 2018
Last Verified: January 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by Wendy K. Chung, Columbia University:
Congenital Diaphragmatic Hernia (CDH)
Genetic testing
exome sequencing
genome sequencing

Additional relevant MeSH terms:
Hernia, Diaphragmatic
Hernias, Diaphragmatic, Congenital
Pathological Conditions, Anatomical
Congenital Abnormalities