Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science (DHREAMS)
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Purpose
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.
| Condition |
|---|
|
Congenital Diaphragmatic Hernia |
| Study Type: | Observational |
| Study Design: | Observational Model: Case-Only Time Perspective: Prospective |
| Official Title: | Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science |
- survival [ Time Frame: 2 years ] [ Designated as safety issue: No ]
- development [ Time Frame: 2 years ] [ Designated as safety issue: No ]
- 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
whole blood, tissue, saliva
| Estimated Enrollment: | 500 |
| Study Start Date: | June 2005 |
| Estimated Study Completion Date: | November 2013 |
| Estimated Primary Completion Date: | November 2012 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
Congenital Diaphragmatic Hernia (CDH)
Humans affected with congenital diaphragmatic hernia (CDH)
|
|
Unaffected
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
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | 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
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
Contacts and Locations| Contact: Julia Wynn, MS | 212-305-6987 | jw2500@columbia.edu |
| Contact: Wendy Chung, MD, PhD | 212-305-6731 | wkc15@columbia.edu |
| 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 |
| St. Louis, Missouri, United States, 63110 | |
| Contact: Brad Warner, MD 314-454-6022 warnerb@wudosis.wustl.edu | |
| Contact: Brian Bucher, MD 314-454-6022 bucherb@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: 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 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 | |
| United States, Ohio | |
| Cincinnati Children's Hospital and Medical Center/ University of Cincinnati | Recruiting |
| Cincinnati, Ohio, United States, 45229 | |
| Contact: Gina Sharp, BSN 513-803-0745 gina.sharp@cchmc.org | |
| Contact: Bonnie Killen, BA 513-803-2219 bonnie.killen@cchmc.org | |
| Principal Investigator: Tim Crombleholme, MD | |
| United States, Pennsylvania | |
| Children's Hospital of Pittsburgh/ University of Pittsburgh | Recruiting |
| Pittsburgh, Pennsylvania, United States, 15213 | |
| Contact: Laurie Luther, BSN 412-692-7440 laurie.luther@chp.edu | |
| Contact: Douglas Potoka, MD douglas.potoka@chp.edu | |
| Principal Investigator: Douglas Potoka, MD | |
| 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: John Pietsch, MD 615-936-1050 john.pietsch@vanderbilt.edu | |
| Principal Investigator: Dai H Chung, MD | |
| Principal Investigator: | Wendy Chung, MD, PhD | Columbia University |
More Information
Additional Information:
No publications provided
| Responsible Party: | Wendy K. Chung, Assistant Professor, Department of Pediatrics Molecular Genetics, Columbia University |
| ClinicalTrials.gov Identifier: | NCT00950118 History of Changes |
| Other Study ID Numbers: | AAAB2063, R01HD057036 |
| Study First Received: | July 29, 2009 |
| Last Updated: | November 19, 2012 |
| Health Authority: | United States: Institutional Review Board |
Keywords provided by Columbia University:
|
Congenital Diaphragmatic Hernia (CDH) Genes Genetic |
chromosome chromosome microarray microarray |
Additional relevant MeSH terms:
|
Hernia Hernia, Diaphragmatic Hernia, Hiatal Pathological Conditions, Anatomical |
ClinicalTrials.gov processed this record on May 16, 2013