"DHREAMS" Congenital Diaphragmatic Hernia Study

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

Protocol Description

What is a congenital diaphragmatic hernia?
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.

What is the purpose of the DHREAMS study?
Through this study we hope to learn more about whether certain genes contribute to CDH. Our 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. We 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.

Eligibility Criteria

Newborns of both genders, who have been diagnosed with CDH and their biological parents are eligible.
Boys: Newborns
Girls: Newborns


What is involved if I participate in the DHREAMS study?
After the study is explained to you and all your questions are answered, you will be asked to sign a consent form to participate in the study. We will ask for a small blood sample, 10ml or 2 teaspoons from the parents and 2ml from your child.

When your child has surgery to repair the CDH, we will ask for a small sample of skin to be obtained from the location of the incision, and a small sample of the diaphragm. These samples are about the size of this “0”. We will collect information about your medical history through a review of medical records, and about your family through an interview with you.

When your child turns 2 and 5 years of age, they will have a developmental assessment. During the time your child is in the study, study coordinators will be in contact with your family. You are always welcome to call the study coordinators with any questions or concerns that you may have.

Duration: 5 years

Status: Open for Enrollment

Source(s) of Support

National Institute of Child Health and Development

Primary Investigator

Joseph T. Church, MD

Contact Information

Min Shi, RN, BSN, CCRC
Clinical Research Coordinator