Clinical Trial: Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

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.


Detailed Summary:

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.


Sponsor: Columbia University

Current Primary Outcome:

  • 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


Original Primary Outcome:

  • survival [ Time Frame: 2 years ]
  • development [ Time Frame: 2 years ]


Current Secondary Outcome:

  • 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 ]


Original Secondary Outcome:

  • growth [ Time Frame: 2 years ]
  • pulmonary hypertension [ Time Frame: 2 years ]


Information By: Columbia University

Dates:
Date Received: July 29, 2009
Date Started: June 2005
Date Completion: November 2020
Last Updated: June 10, 2016
Last Verified: June 2016