Congenital Diaphragmatic Hernia Study: How to Participate

About the Study

For over 10 years, a dedicated team of clinicians at MassGeneral Hospital for Children and Children’s Hospital Boston, scientists, and collaborators world-wide have been working together to better understand the genetic mechanisms underlying congenital diaphragmatic hernia (CDH) and abnormally small lungs (pulmonary hypoplasia). The cornerstones of this project are the individualized assessment of CDH patients, state of the art genetic screening, and integration of data from animal models (i.e. mice, chicks and flies) to identify new genes and molecular pathways necessary for diaphragm and lung development. We hope to harness the benefit of genetic analyses/testing to find potential treatment strategies that may prevent or alleviate CDH and pulmonary hypoplasia in the future.

We are particularly interested in finding a non-invasive pharmacologic approach to enhance maturation of hypoplastic lungs in utero. It is our estimation that even a small improvement of lung function prenatally, would have a profound effect on improving survival and reducing long term complications.

The CDH study, which is funded by the National Institutes of Health, has recently expanded to include several additional research centers, which have world-renowned expertise in analyses of whole-genomic variation, mutant mouse model development and embryonic characterization, and bioinformatic assessment of complex anomalies. It is with great hope that our strategy will serve as a model for studies of other genetically complex congenital malformations.

Frequently Asked Questions about Participating

Q. Who is being recruited?

We are recruiting children and adults with CDH as well as their parents and siblings. We are also looking for those families with multiple cases of CDH within the same family, be they, siblings, cousins, or parent-child cases with CDH.

These families are very informative because they can be analyzed for missing or changed genes. If your child did not survive it is possible to participate if an autopsy was performed or blood was saved. The help of each family plays an important role in our search for answers.

Q. What does participation involve?

Your participation in the study would involve filling out a questionnaire, a physical examination by a geneticist or a copy of a recent physical examination, obtaining a blood or pathology sample (DNA) from the affected individual, and reviewing medical records of the individual with CDH. For babies having an operation at Children's Hospital, Boston or Mass General for Children, either to fix their congenital diaphragmatic hernia or for another reason, a small skin biopsy measuring about the size of a match stick, rather than blood sampling can be performed during the operation as a source of cells for DNA testing. The samples will be used to test for changes in genes associated with poor lung development seen with CDH. Such changes are best detected by comparing samples between family members and therefore we hope to collect a blood sample from parents and siblings as well. Depending on the age and size of your participating family members, we would need at most 2 teaspoons full of blood (9ml) from the arm. Permanent cell lines will be established from your family's blood samples.

We will ask parents of children participating in the study if they can be photographed to record distinctive features noticed on physical examination by a trained geneticist. Families participating from a distance may provide us with a picture of their child if they wish. Photos will be housed in our office either on a secure password protected computer or in a locked cabinet and will be used only for teaching and/or research purposes.

Q. How do we participate if we live in the Boston area?

If you live in the Boston area, your family is welcome to make an appointment with the study coordinator to participate at either Mass General for Children or Children's Hospital of Boston.

The questionnaire should take about 15 minutes, and a geneticist will perform a short physical examination on your child with CDH. The physical examination is non-invasive and will take only a few minutes. Blood samples will be obtained from the affected child, healthy siblings, and parents.

We cannot offer payment or reimbursement for participating in the study.

Q. How do we participate if we live outside the Boston area or outside the USA?

If you do not live in the Boston area, your family may still participate in the study. An envelope containing the questionnaire, consent forms, and medical record release forms will be sent to your home. After the consent forms are signed and returned to us, we will send you a package in the mail containing the proper blood drawing tubes and instructions. You may bring this kit to your family doctor and ask him/her to draw the blood. You will be provided with proper mailing instructions and a pre-paid FedEx envelope to return the kit to us in Boston. All necessary materials will be provided and participants will not incur any expense for the procedure. We will ask for permission to request copies of prenatal care records and your affected child's medical records (those that involve genetic evaluations, as well as any follow-up medical or surgical care.)

We cannot offer payment or reimbursement for participating in the study.

Q. How long does it take to complete the study?

If you schedule an appointment at either Mass General for Children or Children's Hospital of Boston, the appointment should take about an hour. It should take about the same time if you participate from a distance. There is no follow-up involved with the study. The questionnaire, physical exam, and blood draw will be needed only one time.

Contact Us

If you are interested in becoming part of this study, please contact either of the clinical coordinators via phone or e-mail.

Clinical Coordinators

Meaghan Russell, PhD
Mass General for Children
Phone: 617-726-0828
Email: mrussell@partners.org

Jessica Kim, BS
Children's Hospital, Boston
Phone: 617-355-2555
Email: JessicaKim2@childrens.harvard.edu