Plain-English translation of NCT06555965 on ClinicalTrials.gov ↗ · Source last updated · Translation generated · How we translate trials
This is a natural history study—meaning researchers will follow you over time to better understand how two rare genetic conditions (STXBP1 and SYNGAP1 related disorders) progress and affect your health. These conditions happen when specific genes don't work properly, which affects how nerve cells in the brain communicate with each other, often causing developmental delays, seizures, and behavioral challenges. By carefully tracking how symptoms change over years, researchers hope to create a clear picture of these disorders that will help guide the development of new treatments.
Right now, doctors don't have a detailed understanding of exactly how these genetic conditions unfold over time, which makes it hard to predict outcomes and test new treatments. Several new therapies are being developed, and this study will provide the roadmap researchers need to know whether those treatments are actually working.
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You will visit the study clinic at the start and then every 6 months for up to 5 years (about 10 visits total). During these visits, researchers will ask detailed questions about your health history, do a physical exam, perform brain wave recordings (EEG), and give age-appropriate assessments to track development and behavior. Most of these visits can happen during your regular clinic appointments, so participation fits into your existing care routine.
AI-generated summary from trial data · Jun 4, 2026 · Not medical advice
United States