Studying biological markers in children with STXBP1 encephalopathy
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study is looking at children with STXBP1-related encephalopathy to better understand the condition and find biological markers (clues in the body) that can help with diagnosis and treatment. It involves detailed medical and cognitive assessments to learn more about how the condition affects each child.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are under 10 years old
- You have a confirmed STXBP1 gene mutation (if the original test wasn't clear, the study will do a more thorough genetic test to confirm)
- You don't have a severe disability that would prevent you from doing cognitive tests
- A parent or caregiver who knows you well must be available to answer questions about your daily life
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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