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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 Wendy K. Chung, 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

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

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

Resource links provided by NLM:

Further study details as provided by Wendy K. Chung, Columbia University:

Primary Outcome Measures:
  • 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

Secondary Outcome Measures:
  • 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 ]

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

Estimated Enrollment: 2020
Study Start Date: June 2005
Estimated Study Completion Date: November 2020
Estimated Primary Completion Date: November 2020 (Final data collection date for primary outcome measure)
Congenital Diaphragmatic Hernia (CDH)
Humans affected with congenital diaphragmatic hernia (CDH)
Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)

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.


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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00950118

Contact: Julia Wynn, MS 212-305-6987
Contact: Wendy Chung, MD, PhD 212-305-6731

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
St. 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)
Principal Investigator: Wendy Chung, MD, PhD Columbia University
  More Information

Additional Information:

Responsible Party: Wendy K. Chung, Assistant Professor, Department of Pediatrics Molecular Genetics, Columbia University Identifier: NCT00950118     History of Changes
Other Study ID Numbers: AAAB2063
R01HD057036 ( U.S. NIH Grant/Contract )
Study First Received: July 29, 2009
Last Updated: June 10, 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by Wendy K. Chung, Columbia University:
Congenital Diaphragmatic Hernia (CDH)
chromosome microarray

Additional relevant MeSH terms:
Hernia, Diaphragmatic
Hernias, Diaphragmatic, Congenital
Pathological Conditions, Anatomical
Congenital Abnormalities processed this record on September 19, 2017