Frequently Asked Questions (FAQs): Participation
Who is eligible to participate?
Any child or teen with a neurological disorder seen at Boston Children’s Hospital and his or her family members can enroll in the Repository Core.
What does participation involve?
Participating in the Repository Core involves a one-time visit, which can either be included in one of your child’s regular visits to Boston Children’s or can also be done at another time that is convenient for you.
If you participate in the Repository Core, the process is as follows:
- Your informed consent is obtained. Informed consent is a legal term. It means that you are fully aware of the facts and risks of participating in the Repository Core before agreeing to it.
- The research team asks you a few questions regarding your or your child’s medical history. We also obtain other medical information from your or your child’s medical record and doctors. In the future, we may ask to take pictures and/or video recordings of your or your child (this is optional).
- Your saliva or a blood sample is collected. The research team may also ask to see tissue or other samples collected by your or your child’s doctor from prior or future procedures.
- All of the information and samples that we collect are coded with ID numbers instead of your or your child’s name. The information and samples are stored in a secure database and freezers for studies of neurological disorders.
How long will participation take? Does it cost anything to participate?
This process takes roughly an hour of your time. There is no fee to take part in the Repository Core, and there will be no payment for your participation.
Can I see the results?
When these samples are used in the future, research on them will be done in a laboratory. This means that we cannot directly release results to you. However, you can call or email the Repository Core at any time to ask questions or to check in on the overall progress of the program.
We can also contact you if clinically important information and/or genetic testing become available.
Will my participation be confidential?
To protect you and your child, all information and samples gathered are accessible only by Repository Core staff and approved researchers. Everything stored in the Core is confidential and is not placed in the medical record of participating children or their families
Family Education Sheet
Physician Reminder Sheet
Conditions of Interest:
- Tuberous Sclerosis Complex
- Sturge-Weber Syndrome
- MoyaMoya Syndrome
- Agenesis of the Corpus Callosum
- Hypoxic Ischemic Encephalopathy
- Inferior Vermian Hypoplasia
- Septooptic Dysplagia
- Rett Syndrome
- Rasmussen’s Encephalitis
- Infantile Spasms
- Opsoclonus-myoclonus-ataxia Syndrome
- Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome)
- Focus on children/families with unstudied neurological conditions or disorders as well!
Associated Departments and Programs
- EpGap Project – Dr. Ann Poduri, Catherine Shain
- Epilepsy of Genetics Program – Dr. Ann Poduri’s Lab
- Tuberous Sclerosis Alliance – Dr. Mustafa Sahin’s Lab
- Mutation Negative Rett Project – Dr. Ann Poduri/Dr. Heather Olson
- Sturge-Weber Syndrome and Moya-moya Syndrome Projects – Dr. Mustafa Sahin
- Epilepsy Department at BCH
- Inpatient Floors – Neurology ICU service, 9 North
- Agenesis of the Corpus Callosum Project – Dr. Chris Walsh’s Lab
Associated Physicians/Referring Physicians
Dr. Mustafa Sahin
Dr. Ann Poduri
Dr. Elizabeth Engle - Principal Investigator
Dr. Mark Gorman
Dr. Michael Rivkin
Dr. Janet Soul
Kira Dies, ScM, CGC