Phenylbutyrate for Neurodevelopmental Disorders

Palo Alto (17 mi)

Overseen byZachary Grinspan, MD

Age: < 18

Sex: Any

Travel: May be covered

Time Reimbursement: Varies

Trial Phase: Phase < 1

Waitlist Available

Sponsor: Weill Medical College of Cornell University

No Placebo Group

Trial Summary

What is the purpose of this trial?This trial is testing glycerol phenylbutyrate, a medication that helps brain proteins work better, in children with severe genetic epilepsy and developmental delays. The goal is to see if it is safe and effective for these children.

Eligibility Criteria

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.

Inclusion Criteria

I am between 2 months and 17 years old.

My kidney function is normal, with a filtration rate above 90 mL/min.

Treatment Details

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.

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.