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Clinical trialNCT04937062Active, not recruitingEarly phase 1Interventional

Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy

SponsorWeill Medical College of Cornell UniversityEnrollment50Developmental and Epileptic EncephalopathySTXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental Disorder
View the registry record on ClinicalTrials.gov

Summary

The lay summary the sponsor registered on ClinicalTrials.gov.

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.
clinicaltrials.gov ↗

Investigators

The overall officials registered on this study. Names that resolve to a findmyKOL profile link to it; the rest are shown as registered.

A profile link is shown only when the registered name resolves to a person record with a confident, namesake-checked match; ambiguous names stay unlinked.

Sites

2 registered facilities, with the per-site recruitment status where the registry publishes one. ClinicalTrials.gov does not publish per-site enrollment counts.

United States
  • Children'S Hospital Colorado

    Aurora, Colorado, United States

  • Weill Cornell Medicine

    New York, New York, United States

Site investigator names are published by ClinicalTrials.gov only while a study recruits, so completed studies list sites without them.

Drugs studied

The drug and biological interventions registered on this study, normalized to their RxNorm ingredient where possible.

Glycerol phenylbutyrate →
Linked drugs open the directory filtered to KOLs working with them.clinicaltrials.gov ↗

Registration & key dates

Registry attributes as recorded on the ClinicalTrials.gov study record.

Start
1 Mar 2021
Primary completion
1 Dec 2026
Completion
31 Dec 2026
Last update posted
22 Jan 2026
Registered enrollment
50
Registry id
NCT04937062
clinicaltrials.gov ↗

Source: ClinicalTrials.gov, via the CTTI AACT database, data as of 24 Aug 2026. Registry facts are shown as registered by the study sponsor; findmyKOL does not interpret them.