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The purpose of this study is to find out what effect glycerol phenylbutyrate has on monogenetic developmental and epileptic encephalopathies.
This research study is being done because there is no known specific treatment for monogenetic developmental and epileptic encephalopathies. There have been some experiments in animals that suggest that glycerol phenylbutyrate can improve function of the protein that is not working properly in two example disorders (STXBP1 and SLC6A1). We do not know if it will be helpful in humans for these disorders or for other monogenetic developmental and epileptic encephalopathies. By doing this study, we hope to learn whether glycerol phenylbutyrate can improve disease outcomes for monogenetic developmental and epileptic encephalopathies.
Ravicti, or glycerol phenylbutyrate, is approved by the U.S. Food and Drug Administration (FDA), but is being used in a new capacity outside of its labeling indications.
ARM 1: Participation in this research will last about 14 weeks.
ARM 2: Participation in this research will last about 20 weeks.
For both arms of the study, participants will have the option to continue receiving the drug up until December 2025.
Arm 1 (Initial Phase):
We will open enrollment to subjects aged 2 months to 17 years with STXBP1-E and seizures. For SLC6A1, seizures occur later in the course (typically middle of 1st decade) and so seizures will not be an entry criteria. Subjects will be considered eligible to participate in this study if each one of the following inclusion criteria is satisfied at screening (and prior to dosing).
Arm 2 (Expansion Phase):
We will open enrollment to subjects aged 0 months to 15 years with a monogenetic developmental and epileptic encephalopathy and seizures.
Detailed eligibility will be discussed with the study team.