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Hirschsprung Disease Risk Factor Study

Join our human research studies!
We believe that both genetic and non-genetic factors cause Hirschsprung disease. We hope you will help us to identify the causes of Hirschsprung disease so that we can develop new prevention strategies.
We are currently enrolling children with Hirschsprung disease, their siblings and parents in our study. We need to enroll as many people as possible to have the greatest chance of success.
 
If you are interested in participating, please contact heuckerothr [at] email.chop.edu (Dr. Heuckeroth) or his study coordinator Lemkea [at] email.chop.edu (subject: Study%20participation) (Amanda Lemke.)
 
What does the study involve?
1. We are collecting blood or saliva samples from participants to prepare DNA. This will be used to identify genetic risks for Hirschsprung disease. We would like to enroll children with Hirschsprung disease, their parents and siblings.
2. We are collecting information about participants medical history by talking with enrolled families, reviewing medical records and via online data entry.
3. For children less than 6 months old, our partners at the Slone Epidemiology Center at Boston University are conducting a single phone interview with mothers to learn more about the pregnancy and about the mother's health before, during, and after the pregnancy.
 
Why are we doing this study?
Human development is controlled by genetic information encoded in our DNA.  Birth defects occur when genetic information is not ideal or when non-genetic factors (mother's health, medicine, nutrition, or environmental toxins) cause problems with development.  If we can identify non-genetic factors that increase Hirschsprung disease risk we may be able to prevent some children from being born with this birth defect.
 
Will I be paid to participate? No. We are not paying participants. 
 
Will I learn about my DNA test results? In most cases you will not be informed of any DNA test results since these are research studies and not clinical tests.
 
What is the risk if I decide to participate? Minimizing risk to participants is important to us. The biggest concern is “loss of confidentiality”. This means that someone might learn that you are participating in this study or even learn of your DNA test results. We are doing everything we can to keep all of your data completely private. Participation in this study does not become part of your medical records. All DNA samples are marked by a study ID number and identifying information is kept in a secure database managed by The Children's Hospital of Philadelphia. You will also be protected by a Certificate of Confidentiality issued by the National Institutes of Health that makes it harder for anyone to get access to your data except for people in our research groups.
 
How long will it take to find new ways to prevent Hirschsprung disease? We expect that this will take many years and that we will need to enroll hundreds of families. We are primarily interested in enrolling families whose children have Hirschsprung disease, but we will also need to enroll families whose children have other birth defects and families with healthy children.
 
Why does this matter?  This research should lead to new ways to prevent Hirscshprung disease and we need your help!