Understanding SLC6A1 Genetic Disorder in Children
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study tracks how children with SLC6A1 genetic mutations develop over time. Researchers will collect information about seizures, development, and daily functioning to better understand the condition and help guide future treatments.
Summary written for real people, not researchers, by Clin2.
Who can take part
- Child has a confirmed SLC6A1 gene mutation (pathogenic or likely pathogenic) and experiences seizures, developmental delay, autism, or intellectual disability
- Child is 17 years old or younger at the time of enrollment
- Child's legal guardian provides informed consent; child may also provide assent if able
- Family is able and willing to attend study visits and complete daily diaries as requested
- Child is not currently in other experimental drug studies (except 4-phenylbutyrate) or has not received experimental drugs in the past 30 days
- Child does not have another known genetic condition that also causes seizures or developmental problems
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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