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Histone Deacetylase Inhibitor

Phenylbutyrate for Neurodevelopmental Disorders

Phase < 1
Waitlist Available
Led By Zachary Grinspan, MD
Research Sponsored by Weill Medical College of Cornell University
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
For SLC6A1-NDD, seizures occur later in the course (typically middle of 1st decade) and so seizures will not be an entry criteria.
Is between 2 months and 17 years of age, inclusive.
Timeline
Screening 3 weeks
Treatment Varies
Follow Up through december 2025 (1 - 5 years, depending on participant)
Awards & highlights

Study Summary

This trial will test if phenylbutyrate is safe and well tolerated in children with STXBP1 encephalopathy or SLC6A1 neurodevelopmental disorder.

Who is the study for?
This trial is for children aged 2 months to 17 years with specific genetic disorders causing epilepsy and developmental delays, such as STXBP1 Encephalopathy or SLC6A1 neurodevelopmental disorder. Participants need a confirmed diagnosis through genetic testing, normal heart rhythm on an EKG, and good kidney function. They should be in stable health apart from their neurological condition.Check my eligibility
What is being tested?
The study tests the safety and tolerability of glycerol phenylbutyrate (Ravicti) in treating monogenetic developmental epileptic encephalopathies (DEEs). It aims to see if this medication can enhance the functioning of proteins affected by these genetic conditions.See study design
What are the potential side effects?
While not explicitly listed here, potential side effects may include digestive issues since glycerol phenylbutyrate is processed by the liver and kidneys. As it's being tested for safety, monitoring will occur for any adverse reactions.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
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I have SLC6A1-NDD, but seizures are not a main concern for my condition.
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I am between 2 months and 17 years old.
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I have a confirmed genetic condition related to STXBP1 or SLC6A1.
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My kidney function is normal, with a filtration rate above 90 mL/min.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~through december 2025 (1 - 5 years, depending on participant)
This trial's timeline: 3 weeks for screening, Varies for treatment, and through december 2025 (1 - 5 years, depending on participant) for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.
Primary outcome measures
Long Term Adverse events (i.e., safety)
Percentage of doses taken by participants (i.e., tolerability)
Short Term Adverse events (i.e., safety)
Secondary outcome measures
Plasma concentration of phenylbutyrate

Trial Design

2Treatment groups
Experimental Treatment
Group I: SLC6A1 and STXBP1Experimental Treatment1 Intervention
Each participant will be enrolled for 14 weeks (4 weeks baseline, 8 weeks of drug exposure, and 2 weeks follow-up). After clinical assessment by the investigator if deemed safe and appropriate, and requested by the caregiver, participants may continue to receive the study medication ("extended use"), up to December 2025. Participants who remain on phenylbutyrate therapy will be followed quarterly through video visits, and yearly in-person visit. Participants who do not opt to remain on phenylbutyrate therapy will be weaned off the medication during the 2 week follow-up period.
Group II: Monogenetic Epileptic EncephalopathyExperimental Treatment1 Intervention
Each participant will be enrolled for 20 weeks (5 weeks baseline, 12 weeks of drug exposure, and 2 weeks follow-up) . After clinical assessment by the investigator if deemed safe and appropriate, and requested by the caregiver, participants may continue to receive the study medication ("extended use"), up to December 2025. Participants who remain on phenylbutyrate therapy will be followed quarterly through video visits, and yearly in-person visit. Participants who do not opt to remain on phenylbutyrate therapy will be weaned off the medication during the 2 week follow-up period.

Find a Location

Who is running the clinical trial?

University of Pennsylvania Orphan Disease CenterUNKNOWN
Horizon TherapeuticsUNKNOWN
Clara InspiredUNKNOWN

Media Library

Glycerol Phenylbutyrate (Histone Deacetylase Inhibitor) Clinical Trial Eligibility Overview. Trial Name: NCT04937062 — Phase < 1
Encephalopathy with Epilepsy and Neurodevelopmental Disorder Research Study Groups: Monogenetic Epileptic Encephalopathy, SLC6A1 and STXBP1
Encephalopathy with Epilepsy and Neurodevelopmental Disorder Clinical Trial 2023: Glycerol Phenylbutyrate Highlights & Side Effects. Trial Name: NCT04937062 — Phase < 1
Glycerol Phenylbutyrate (Histone Deacetylase Inhibitor) 2023 Treatment Timeline for Medical Study. Trial Name: NCT04937062 — Phase < 1
Encephalopathy with Epilepsy and Neurodevelopmental Disorder Patient Testimony for trial: Trial Name: NCT04937062 — Phase < 1

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

Does one have to exceed a certain age limit in order to participate in the experiment?

"In order to join this medical trial, participants must be between two months and seventeen years old. Of the 100 trials administered, 95 are designed for patients aged 65 or older while only 5 address minors under 18."

Answered by AI

Are there any records of prior research concerning Glycerol Phenylbutyrate 1100 MG/ML [Ravicti]?

"Currently, there are 5 clinical trials for Glycerol Phenylbutyrate 1100 MG/ML [Ravicti], with one of them being in the third phase. With a focus on Bern, Utah as its primary venue, these studies span 18 different locations."

Answered by AI

What is the population size of this clinical experiment?

"At this time, enrolment for the trial is closed. Initially posted on March 1st 2021, and last updated September 27th 2022; if you are exploring other studies there are a total of 175 trials recruiting patients with epilepsy and 5 clinical investigations still open to participants taking Glycerol Phenylbutyrate 1100 MG/ML [Ravicti]."

Answered by AI

Who is eligible for inclusion in this experimental program?

"This clinical trial is currently taking on 21 individuals, ranging in age from 2 Months to 17 years old, who are diagnosed with epilepsy. Furthermore, entrants must meet the following criteria: no concurrent medical illness that could increase risk of adverse drug reactions or interfere with study follow-up; estimated glomerular filtration rate > 90 mL/minute/1.73 m2 at Screening; QT interval corrected < 450 msec on the Screening EKG.; diagnosis confirmed by laboratory report (i.e., a genetic test and corresponding clinical picture); normal laboratory test results for serum aminotransferase concentrations and ammonia;"

Answered by AI

Is this a pioneering study of its kind?

"Currently, 5 clinical trials for Glycerol Phenylbutyrate 1100 MG/ML [Ravicti] are underway in 12 cities and 6 countries. The first of these studies was conducted by Horizon Therapeutics, LLC in 2018 on 18 participants as part of the Phase 4 drug approval process. Since then, 30 further research initiatives have been undertaken."

Answered by AI

What diseases or afflictions does Glycerol Phenylbutyrate 1100 MG/ML [Ravicti] primarily target?

"Ravicti (Glycerol Phenylbutyrate 1100 MG/ML) is a viable therapeutic option for those dealing with enzyme deficiencies, carbamyl phosphate accumulation, and citrullinemia."

Answered by AI

Is this research program still accepting volunteers?

"At present, this trial has ceased its recruitment process. The original posting date for the study was March 1st 2021 and it's most recent update happened on September 27th 2022. Alternatively, there are 175 clinical trials actively recruiting participants who have epilepsy and 5 studies that involve Glycerol Phenylbutyrate 1100 MG/ML [Ravicti]."

Answered by AI

Who else is applying?

What state do they live in?
Arkansas
What site did they apply to?
Children's Hospital Colorado
What portion of applicants met pre-screening criteria?
Met criteria
How many prior treatments have patients received?
0

Why did patients apply to this trial?

Gabriel deserves to progress as much as possible and to be a part of something that one day may make a diagnosis of SLC6A-1 manageable.
PatientReceived 1 prior treatment
Recent research and studies
~10 spots leftby Jan 2025