Now Enrolling!
Institution: Kennedy Krieger Institute, Center for Synaptic Disorders
Principal Investigators: Constance L. Smith-Hicks, MD, PhD
Inclusion Criteria:
- A person with a pathogenic or likely pathogenic SYNGAP1 variant and an unaffected family member willing to enroll and provide a blood sample.
- Priority of the family member is an unaffected full sibling, then half sibling, then a parent of the same sex as the person with SYNGAP1. Age is both children and adults.
Study Details:
- Blood collection can be coordinated at a local laboratory or healthcare facility; a trip to Baltimore is not necessarily required. The study team arranges the process.
- The person with SYNGAP1 and an unaffected family member both enroll in the study and provide blood samples, approximately four vials each. The unaffected family member also completes a short online health questionnaire, which takes about 5–10 minutes. Total participation is expected to take 1–2 hours. This is an unpaid research opportunity.
How to Sign Up: Contact Emily Schneider, Research Assistant II, at SchneiderEJ@kennedykrieger.org or 667-205-4381 to discuss eligibility and consent.
CURE SYNGAP1 Contact: Lauren Perry, lauren@cureSYNGAP1.org