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

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

Full Study Title: Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science (DHREAMS)

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.

Participant Eligibility

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

Study ID: NCT00950118

Study Sites
Medical College of Wisconsin

Principal Investigator(s)
Amy Wagner, MD

Contact
Jessy Schultz, BSN
414-266-6438
jschultz@chw.org



CTSI PARTNERS

VersitiChildren's Hospital of WisconsinVA Medical CenterMarquette UniversityMSOEUWM