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

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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

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.

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Study Type : Observational
Estimated Enrollment : 3000 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

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Hernia

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, Older Adult
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 ClinicalTrials.gov identifier (NCT number): NCT00950118

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Contact: Julia Wynn, MS 212-305-6987 jw2500@columbia.edu
Contact: Becca Hernan, MS 212-317-6503 rh2813@cumc.columbia.edu

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United States, Illinois
Rush Hospital Recruiting
Chicago, Illinois, United States
Contact: Mindy Li, MD         
Contact: Alexa Hart, MS, CGC         
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    mychalis@med.umich.edu   
Contact: Jeannie Kreutzman, RN, MSN    734-763-2072    jkreutzm@med.umich.edu   
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    lukask@wudosis.wustl.edu   
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    kazarow@childrensomaha.org   
Contact: Sheila Horak, APRN       shorak@childrensomaha.org   
Principal Investigator: Brad Warner, MD         
United States, New York
Northwell Health Recruiting
Manhasset, New York, United States, 11030
Contact: Samuel Soffer, MD       ssoffer@nhsh.edu   
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    jw2500@columbia.edu   
Contact: Wendy Chung, MD, PhD    212-851-5313    wkc15@columbia.edu   
Principal Investigator: Wendy Chung, MD, PhD         
Principal Investigator: Marc Arkovitz, MD         
New York University, Hassenfeld Children's Hospital at NYU Langone Health Recruiting
New York, New York, United States
Contact: Jason Fisher, MD         
Contact: Elizabeth Jehle         
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    trish.burns@cchmc.org   
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       gonzalbr@ohsu.edu   
Contact: Ken Azarow, MD       azarow@ohsu.edu   
United States, Pennsylvania
Children's Hospital of Pittsburgh/ University of Pittsburgh Completed
Pittsburgh, Pennsylvania, United States, 15213
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    dai.chung@vanderbilt.edu   
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    David.Schindel@childrens.com   
United States, Wisconsin
Medical College of Wisconsin Completed
Milwaukee, Wisconsin, United States, 53226
Cairo University Hospital Recruiting
Cairo, Egypt
Contact: Mahmoud Elfiky, MD    201001557755    drmelfiky@gmail.com   
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)
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Principal Investigator: Wendy Chung, MD, PhD Columbia University
Additional Information:

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Responsible Party: Columbia University
ClinicalTrials.gov Identifier: NCT00950118    
Other Study ID Numbers: AAAB2063
R01HD057036 ( U.S. NIH Grant/Contract )
First Posted: July 31, 2009    Key Record Dates
Last Update Posted: November 8, 2022
Last Verified: November 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Columbia University:
Congenital Diaphragmatic Hernia (CDH)
Genetic testing
exome sequencing
genome sequencing
Additional relevant MeSH terms:
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Hernias, Diaphragmatic, Congenital
Hernia, Diaphragmatic
Pathological Conditions, Anatomical
Internal Hernia
Congenital Abnormalities