Congenital Diaphragmatic Hernia Program Research and Innovation

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Welcome to the website of our study on the genetics of Congenital Diaphragmatic Hernia (CDH). The goal of this study is to identify genes responsible for CDH and abnormal lung development.

We hope that by learning more about the causes of CDH we will be able to improve the care and outcome for the next generation of babies born with CDH. Long term, the results from this study may lead to simpler, more effective treatments for children with CDH.

Our study is sponsored by the National Institutes of Health, or NIH, and is a combined effort between MassGeneral Hospital for Children and Boston Children's Hospital.

How to participate

Who is being recruited?

  • Children and adults with CDH, as well as their parents and siblings
  • Families who have several family members with CDH (such as siblings, cousins, grandparents, parents, etc). These families are particularly informative because powerful genetic techniques can be used to detect missing or changed genes.
  • Families where a child or family member passed away from CDH (if an autopsy was performed, or a blood or other tissue sample was saved).
  • Families where a child or family member has a chromosome change or genetic syndrome associated with CDH.

The help of every single family plays an important role in our search for answers!

What does participation involve?

Participating in this study involves:

  • Filling out a short medical and family history questionnaire
  • Giving us permission to review medical records about the prenatal history of you/your family member with CDH
  • Allowing the study geneticist to perform a brief physical exam on you/your family member with CDH; this only applies if you/your family member with CDH is a patient at Boston Children's Hospital or MassGeneral Hospital for Children.
  • Providing a sample from you/your family member with CDH to test for changes in genes associated with poor lung development and CDH. Collected samples could include: a blood sample; a small skin sample (about the size of the end of a match stick) taken at the time of surgery; and a urine sample.
  • Providing a blood sample for genetic analyses from both parents of the individual with CDH, as well as possibly from his/her siblings. This is requested since changes in genes are best detected by comparing samples between family members.
  • A urine sample and/or pictures may be requested from some of your other family members.
     

All samples and information collected for the study will be de-identified. In other words, each participant is assigned a unique study number, which is used for labeling samples and paperwork. This number is always used instead of your name. Additionally, information and samples are stored in secure locations to which only members of our research team have access.

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

If you live in the Boston area, your family is welcme to make an appointment with the study coordinator to participate at either MassGeneral Hospital for Children or Boston Children's Hospital. Completing the questionnaire should take about 15 minutes. The geneticist's short physical examination on you/your child with CDH is non-invasive and will take only a few minutes to complete. Blood (and possibly urine) samples for studying gene changes will be obtained from the person with CDH, the parents of the person with CDH, and possibly some of your other family members.

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

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 our study. An envelope containing the questionnaire, consent forms, and medical record release forms will be mailed 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 participating. We will ask you to sign medical record release forms granting us permission to request copies of prenatal care records and your/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.

How long does it take to complete the study?

If you schedule an appointment at either MassGeneral Hospital for Children or Boston Children's Hospital, 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 this study as the samples and information collected will be needed only one time.

Meet our team

Our dedicated staff (at MassGeneral Hospital for Children and Boston Children's Hospital) ensures that all aspects of our study run smoothly. Working together, we hope to identify genes that cause Congenital Diaphragmatic Hernia (CDH) and abnormal lung development, with the eventual goal of improving care for future children born with CDH.

Patricia K. Donahoe, MD, Overall Program Project Director
Director of Pediatric Surgical Research Labs
Chief of Pediatric Surgical Services, Emeritus
MassGeneral Hospital for Children
Marshall K. Bartlett Professor of Surgery, Harvard Medical School

Jay M. Wilson, MD, Principal Investigator, Boston Children's Hospital
Senior Associate in Surgery
Director of Surgical Critical Care
Boston Children's Hospital
Associate Professor of Surgery, Harvard Medical School


Geneticists: Genetics Unit, MassGeneral Hospital for Children

Barbara Pober, MD, Co-Investigator, Boston Children's Hospital
Medical Geneticist
Department of Surgery, Boston Children's Hospital
Department of Pediatrics, MassGeneral Hospital for Children

Clinical Coordinators

Meaghan Russell, MPH, PhD(c)
MassGeneral Hospital for Children

Caroline Coletti, MA
MassGeneral Hospital for Children

Anna Frangulov, BS
Boston Children's Hospital

Contact Us

If you are interested in learning more about this study, or want to become part of this study, please contact either of the clinical coordinators via phone or e-mail. 
Clinical Coordinators 

Meaghan Russell, MPH, PhD(c)
MassGeneral Hospital for Children
617-726-0828
mrussell@partners.org 

Anna Frangulov, BS
Boston Children's Hospital
617-355-2555
CDHResearchStudy@childrens.harvard.edu 

CDH Study Update

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Our CDH research team publishes regular newsletters for patients and families, the Congenital Diaphragmatic Hernia Study Newsletter (or CDH News). These newsletters include:

  • Updates on our CDH research
  • Helpful articles for families who have a child born with CDH
  • Patient's stories

CDH6

Issue 6, September 2012
Covered topics:

Update on our CDH Research Study
Lung Problems & CDH
Adrienne's Story
Lucas's Story

CH5

Issue 5, May 2010
Covered topics:

Update on our CDH research study
Hearing Loss & CDH
CDH Facts
Candace's Story
Terry's Story

CH4

Issue 4, July 2009
Covered topics:

Update on our CDH research study
Fetal Tissue Engineering
Developmental Overview of Children with CDH
Shuami's Story
CHERUBS Family Meeting 2009

CH3

Issue 3, May 2008
Covered topics:

Update on our CDH research study
Few words on CDH Awareness Day
Summary of a research study from CDH Study Group
Feeding in Children with CDH: What to Expect?
Shane's Story
Bryant's Story

CH2

Issue 2, February 2007
Covered topics:

Update on our CDH research study
New CDH Findings: Changes in the Megalin Gene Can Cause CDH
I just gave birth to a child with CDH. Could it happen again?
What is ECMO?
Coping with CDH
Tanina's Story
Trey's Story
List of Useful Websites and Support Groups

CH1

Issue 1, February 2006 
Covered topics:

Overview of our CDH research study
Genetics 101: understanding genetics of CDH
What is CDH?
New CDH Findings: Fog2 Gene Is Required for Normal Diaphragm and Lung Development in Mice and Humans

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