Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
- Conditions
- Congenital Diaphragmatic Hernia
- Registration Number
- NCT00950118
- Lead Sponsor
- 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.
- 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 3000
- All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of a CDH
- Individuals with no personal history of a CDH or family history of a family member affected with congenital diaphragmatic hernia
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Percentage of patients with a genetic diagnosis 5 years DNA samples from patients will be analyzed for underlying genetic causes.
- Secondary Outcome Measures
Name Time Method Developmental outcomes at 2 and 5 years of age 1 exam at 2 year and 1 exam at 5 years Formal Developmental outcome measures
Percentage of patients with pulmonary hypertension 5 years pulmonary hypertension measured by echocardiogram
Trial Locations
- Locations (14)
Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center)
🇺🇸New York, New York, United States
Northwell Health
🇺🇸Manhasset, New York, United States
Rush Hospital
🇺🇸Chicago, Illinois, United States
Cairo University Hospital
🇪🇬Cairo, Egypt
University of Michigan/ CS Mott Children's Hospital
🇺🇸Ann Arbor, Michigan, United States
New York University, Hassenfeld Children's Hospital at NYU Langone Health
🇺🇸New York, New York, United States
Washington University Medical Center/ St. Louis Children's Hospital
🇺🇸Saint Louis, Missouri, United States
Children's Hospital of Pittsburgh/ University of Pittsburgh
🇺🇸Pittsburgh, Pennsylvania, United States
UT Southwestern Medical Center, Children's Health, Dallas
🇺🇸Dallas, Texas, United States
Cincinnati Children's Hospital and Medical Center/ University of Cincinnati
🇺🇸Cincinnati, Ohio, United States
Oregon Health & Science University, Doernbecher Children's Hospital
🇺🇸Portland, Oregon, United States
Monroe Carrell Jr Children's Hospital at Vanderbilt
🇺🇸Nashville, Tennessee, United States
Children's Hospital of Omaha/ University of Nebraska
🇺🇸Omaha, Nebraska, United States
Medical College of Wisconsin
🇺🇸Milwaukee, Wisconsin, United States