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Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy

NCT04937062 · Status: ACTIVE_NOT_RECRUITING · Phase: EARLY_PHASE1 · Type: INTERVENTIONAL · Enrollment: 50

Last updated 2026-01-22

No results posted yet for this 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.

Conditions

  • STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental Disorder
  • Developmental and Epileptic Encephalopathy

Interventions

DRUG

Glycerol Phenylbutyrate 1100 MG/ML [Ravicti]

Glycerol phenylbutyrate (trade name "Ravicti") is an FDA-approved medication used for urea cycle disorders in children and adults. We will titrate to a goal dose of 1.2 mL/m2 (12.4 g/m2) in three equally divided doses given enterally (i.e., by mouth or by g-tube). The dosing is consistent with the dosing guidelines in the FDA approved Medication Guide (https://www.accessdata.fda.gov/drugsatfda\_docs/label/2017/203284s005lbl.pdf).

Sponsors & Collaborators

  • Children's Hospital Colorado

    collaborator OTHER

  • SLC6A1 Connect

    collaborator UNKNOWN

  • STXBP1 Foundation

    collaborator UNKNOWN

  • Clara Inspired

    collaborator UNKNOWN

  • University of Pennsylvania Orphan Disease Center

    collaborator UNKNOWN

  • Horizon Therapeutics

    collaborator UNKNOWN

  • Weill Medical College of Cornell University

    lead OTHER

Principal Investigators

  • Zachary Grinspan, MD · Weill Medical College of Cornell University

Study Design

Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
0 Months
Max Age
17 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-03-01
Primary Completion
2026-12-01
Completion
2026-12-31
FDA Drug
Yes

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04937062 on ClinicalTrials.gov