Study FAQs
How to sign up
If you or someone you love has an SCN1A-related epilepsy and you want to learn more about participation, email scn1a@chop.edu with the following information:
- Patient’s name
- Patient’s age
- Where your family is located
How to submit a sample
The study staff at CHOP will walk you through the consent process and procedures in detail. Participation will require an at-home cheek swab using a kit the study staff will send to you. Once collected, you will ship the kit back to the study team for them to process the sample.
Will I receive my child's test results?
No. This research project is not designed to return individual results to participants. The goal is to generate a large, de-identified dataset that can help researchers understand patterns and outcomes in Dravet Syndrome across many individuals. While your child’s data will contribute to this important research, individual findings will not be shared.
This study is focused on understanding broad trends and associations in Dravet Syndrome using anonymized clinical and genetic data. Returning individual results would require a different study design, including clinical validation and regulatory oversight, which is beyond the scope of this research.
What data is collected and how will it be used?
Your child’s medical records and genetic data (from a cheek swab or saliva sample) will be de-identified and analyzed alongside data from other participants. Researchers will use this information to study trends and associations, not to make individual diagnoses or treatment recommendations.
All data is de-identified before analysis and shared through secure platforms like CAVATICA. Only approved researchers will have access, and no personal identifiers will be included.
The study collects:
- Medical history (e.g., seizures, medications, developmental milestones)
- Genetic data from whole genome sequencing (WGS)
Participation is voluntary, and you can withdraw at any time. If you choose to withdraw, your child’s data will no longer be used in future analyses.
Why is this research being done?
A Learning Health System, such as this, uses data collected during routine care and research to continuously improve patient outcomes. This project aims to build such a system for Dravet syndrome by integrating research findings into clinical care over time.
The project aims to:
- Collect and harmonize clinical and genetic data from 500 individuals with Dravet syndrome.
- Understand how genetic differences may influence outcomes like seizure severity, development, and risk of SUDEP.
- Improve future care and treatment strategies by identifying patterns across a large population.
While your child may not benefit directly, their participation helps build a foundation for future discoveries that could improve diagnosis, treatment, and care for all individuals with Dravet syndrome.
Study Staff
Research Study Leads:
- Ingo Helbig, MD
- Ethan Goldberg, MD, PhD
Study Team:
- Sarah Tefft, MSN, RN CRNP, CPNP-PC: Nurse Practitioner
- Anna Jenne Prentice, MS: Genetic Counselor
- Johanna Mercurio, BS, BSFCS: Clinical Research Coordinator
- Arjun Pillai: Research Student
Downloadable Flyer
Help shape the future of Dravet syndrome
Enrolling Now!
The Dravet Genome Project aims to enroll 500 participants with Dravet syndrome or a related epilepsy who have a confirmed mutation in the SCN1A gene. Participation involves an at-home cheek swab and collection clinical information from medical records.
- Participants of any age are accepted.
- At this time, participation is only open to those currently residing in the United States.
Email scn1a@chop.edu with your loved one’s name, age, and location if you are interested to learn more or participate.
