Monday, September 28, 2009

CDH Research Study - Molecular Genetic Analysis of Congenital Diaphragmatic Hernia (CDH)

CHERUBS always encourages CDH families to participate in as many CDH research studies as possible to help find the cause, prevention and best treatment of Congenital Diaphragmatic Hernia!

Molecular Genetic Analysis of Congenital Diaphragmatic Hernia (CDH)
This study is currently recruiting participants.
Verified by Columbia University, July 2009
First Received: July 29, 2009 Last Updated: July 30, 2009 History of Changes
Sponsors and Collaborators: Columbia University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by: Columbia University Identifier: NCT00950118

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.

Congenital Diaphragmatic Hernia

Study Type: Observational
Study Design: Case-Only, Prospective
Official Title: Molecular Genetic Analysis of Congenital Diaphragmatic Hernia

Resource links provided by NLM:

Further study details as provided by Columbia University:

Primary Outcome Measures:
  • survival [ Time Frame: 2 years ] [ Designated as safety issue: No ]
  • development [ Time Frame: 2 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • growth [ Time Frame: 2 years ] [ Designated as safety issue: No ]
  • pulmonary hypertension [ Time Frame: 2 years ] [ Designated as safety issue: No ]

Biospecimen Retention: Samples With DNA

Biospecimen Description:

whole blood, tissue, saliva

Estimated Enrollment: 500
Study Start Date: November 2008
Estimated Study Completion Date: November 2012
Estimated Primary Completion Date: November 2012 (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:

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.

The focus will be on neonates recruited through clinical services at the New York Presbyterian Medical Center.

Our recruitment efforts will be in collaboration with physicians in the Pediatric Surgery Department and the Neonatology Departments. The patients and their families will be recruited using the prenatally diagnosed babies born at CHONY and the babies born at outside institutions


Genders Eligible for Study: Both
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 family history of a family member affected with congenital diaphragmatic hernia
Contacts and Locations
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 Mychaliska, MD 734-763-2072
Principal Investigator: George Mychalisa, 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
Principal Investigator: Kenneth Azarow, MD
United States, New York
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
Sub-Investigator: Marc Arkovitz, MD
United States, Ohio
Cincinnati Children's Hospital and Medical Center/ University of Cincinnati Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Kim Lyons, RN 513-636-3774
Principal Investigator: Tim Crombleholme, MD
United States, Pennsylvania
University of Pittsbrugh Medical Center Recruiting
Pittsburgh, Pennsylvania, United States, 15213
Contact: Douglas Potoka, MD
Principal Investigator: Douglas Potoka, MD
Sponsors and Collaborators
Columbia University
Principal Investigator: Wendy Chung, MD, PhD Columbia University
More Information
No publications provided

Responsible Party: Columbia University ( Wendy Chung, MD, PhD )
Study ID Numbers: IRB-AAAB2063, CFDA 93848
Study First Received: July 29, 2009
Last Updated: July 30, 2009 Identifier: NCT00950118 History of Changes
Health Authority: United States: Institutional Review Board

Keywords provided by Columbia University:
Congenital Diaphragmatic Hernia (CDH)
chromosome microarray

Additional relevant MeSH terms:
Pathological Conditions, Anatomical
Hernia, Diaphragmatic processed this record on September 27, 2009

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