Phenylbutyrate for STXBP1 Encephalopathy and SLC6A1 Neurodevelopmental Disorder
Status:
Recruiting
Trial end date:
2023-07-31
Target enrollment:
Participant gender:
Summary
STXBP1 Encephalopathy is a severe disease that can cause seizures and developmental delays in
infants and children. It occurs when one copy of the STXBP1 gene has a mutation that causes
the gene's protein to not work properly.
SLC6A1 neurodevelopmental disorder is characterized by developmental delay and often
epilepsy. It occurs when one copy of the SLC6A1 gene has a mutation that causes the gene's
protein to not work properly.
Both STXBP1 encephalopathy and SLC6A1 neurodevelopmental disorder cause symptom because there
are not enough working proteins made by these genes. It is possible that a medication called
phenylbutyrate may help the the remaining proteins work better. This study is to test if
phenylbutyrate is safe and well tolerated in children with STXBP1 encephalopathy and SLC6A1
neurodevelopmental disorder.