Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
Public ClinicalTrials.gov record NCT04937062. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
This study is to evaluate the use of glycerol phenylbutyrate for monogenetic developmental epileptic encephalopathies (DEEs). DEEs are characterized by epilepsy and developmental delay in early life. Two examples of DEEs are STXBP1 and SLC6A1, though there are dozens of others. STXBP1 Encephalopathy is a severe disease that can cause seizures and developmental delays in infants and children. SLC6A1 neurodevelopmental disorder is characterized by developmental delay and often epilepsy. Both STXBP1 encephalopathy and SLC6A1 neurodevelopmental disorder cause symptoms 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 for STXBP1, SLC6A1, and/or other similar DEEs caused by single genes (i.e. "monogenetic"). This study is to test if glycerol phenylbutyrate is safe and well tolerated in children with monogenetic DEE.
Study identification
- NCT ID
- NCT04937062
- Recruitment status
- Active, not recruiting
- Study type
- Interventional
- Phase
- Early Phase 1
- Enrollment
- 50 participants
Conditions and interventions
Eligibility (public fields only)
- Age range
- 0 Months to 17 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Feb 28, 2021
- Primary completion
- Nov 30, 2026
- Completion
- Dec 30, 2026
- Last update posted
- Jan 21, 2026
2021 – 2026
United States locations
- U.S. sites
- 2
- U.S. states
- 2
- U.S. cities
- 2
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Children's Hospital Colorado | Aurora | Colorado | 80045 | — |
| Weill Cornell Medicine | New York | New York | 10065 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT04937062, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Jan 21, 2026 · Synced Sep 5, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT04937062 live on ClinicalTrials.gov.