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NCT04937062 · ClinicalTrials.gov registry record · Early Phase 1
Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
A Early Phase 1 study of Developmental and Epileptic Encephalopathy and STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental Disorder, sponsored by Weill Medical College of Cornell University.
- Active
- Registry status
- Early Phase 1
- Development phase
- 50
- Enrollment target
- 2
- Study locations
NCT04937062: Active Early Phase 1 study of Developmental and Epileptic Encephalopathy and STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental Disorder, sponsored by Weill Medical College of Cornell University.
NCT04937062 is a Early Phase 1 study of Developmental and Epileptic Encephalopathy and STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental Disorder that is active but no longer recruiting, run by Weill Medical College of Cornell University. The registered enrollment target is 50 participants, below the 138-participant average among 3 other Developmental and Epileptic Encephalopathy trials with a reported enrollment target (64% lower). The trial reports 2 study locations across 2 states. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT04937062, a Early Phase 1 study of Developmental and Epileptic Encephalopathy and STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental Disorder, is active but no longer recruiting, sponsored by Weill Medical College of Cornell University.
- ACTIVE NOT RECRUITING
- Registry status
- Early Phase 1
- Development phase
- 50 participants
- Enrollment target
- 2
- Study locations
Study Summary
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.
Primary Outcome
The qualitative safety endpoint will describe any adverse events. It will include a description of the incidence, frequency, and severity of adverse events (including known side effects of the medication, changes in vital signs, EKG changes, EEG changes, increase in seizures, changes in clinical laboratory results, and/or changes in physical examination). We will monitor for these adverse events throughout the study, and measure them definitely at the time of the second admission.
Conditions Studied
Interventions
- DRUG Glycerol Phenylbutyrate 1100 MG/ML [Ravicti]
Study Locations (2)
Colorado
- Children's Hospital Colorado - Aurora
New York
- Weill Cornell Medicine - New York
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 50 participants |
| Start Date | 2021-03-01 |
| Est. Completion | 2026-12-31 |
| Phase | Early Phase 1 |
What the registry record for NCT04937062 still lists
NCT04937062 is an interventional study that assigns participants to a tested intervention. The registry caps enrollment at 50 participants, a relatively small participant target, below the 138-participant average among 3 other Developmental and Epileptic Encephalopathy trials with a reported enrollment target (64% lower).
The record links to 2 conditions, with Developmental and Epileptic Encephalopathy appearing as the primary indexed condition, and to 1 intervention - of which Glycerol Phenylbutyrate 1100 MG/ML [Ravicti] is the first listed.
NCT04937062 reports a single indexed study location in Colorado, New York.
Frequently Asked Questions
What is clinical trial NCT04937062 about?
NCT04937062 is a clinical study titled "Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy". 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 Encephalopat...
What is the current status of trial NCT04937062?
This trial is currently active not recruiting. It is a Early Phase 1 study. The enrollment target is 50 participants. The study started on 2021-03-01. Estimated completion is 2026-12-31.
What conditions does trial NCT04937062 study?
This clinical trial studies the following conditions: Developmental and Epileptic Encephalopathy, STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental Disorder.
What interventions are being tested in trial NCT04937062?
The interventions under investigation include: Glycerol Phenylbutyrate 1100 MG/ML [Ravicti] (DRUG).
Who is sponsoring clinical trial NCT04937062?
This trial is sponsored by Weill Medical College of Cornell University, which has 701 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT04937062 being conducted?
This trial has 2 study locations across Colorado, New York. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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