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

This study is currently recruiting participants.
Verified November 2012 by Columbia University
Sponsor:
Collaborator:
Information provided by (Responsible Party):
Wendy K. Chung, Columbia University
ClinicalTrials.gov Identifier:
NCT00950118
First received: July 29, 2009
Last updated: November 19, 2012
Last verified: November 2012

July 29, 2009
November 19, 2012
June 2005
November 2012   (final data collection date for primary outcome measure)
  • survival [ Time Frame: 2 years ] [ Designated as safety issue: No ]
  • development [ Time Frame: 2 years ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT00950118 on ClinicalTrials.gov Archive Site
  • growth [ Time Frame: 2 years ] [ Designated as safety issue: No ]
  • pulmonary hypertension [ Time Frame: 2 years ] [ Designated as safety issue: No ]
Same as current
Not Provided
Not Provided
 
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

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.

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

Observational
Observational Model: Case-Only
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:

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)
Wynn J, Aspelund G, Zygmunt A, Stolar CJ, Mychaliska G, Butcher J, Lim FY, Gratton T, Potoka D, Brennan K, Azarow K, Jackson B, Needelman H, Crombleholme T, Zhang Y, Duong J, Arkovitz MS, Chung WK, Farkouh C. Developmental outcomes of children with congenital diaphragmatic hernia: a multicenter prospective study. J Pediatr Surg. 2013 Oct;48(10):1995-2004. doi: 10.1016/j.jpedsurg.2013.02.041.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
500
November 2013
November 2012   (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
Both
Not Provided
Yes
Contact: Julia Wynn, MS 212-305-6987 jw2500@columbia.edu
Contact: Wendy Chung, MD, PhD 212-305-6731 wkc15@columbia.edu
United States
 
NCT00950118
AAAB2063, R01HD057036
No
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
November 2012

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