NCT07847918RecruitingPhase 2
A Fully Remote Feasibility Trial of Phenylbutyrate for SLC6A1-Related Disorders
A Site-Less Feasibility Trial of Phenylbutyrate for SLC6A1-Related Disorders
Source: ClinicalTrials.gov · Last updated 29 Sept 2026
Brief summary (registry, in English)
The purpose of this study is to evaluate the feasibility of a site-less (fully remote) clinical trial using phenylbutyrate for SLC6A1-related disorders. Study participants will receive treatment with phenylbutyrate, undergo electroencephalogram (EEG) monitoring, and complete laboratory testing. Caregivers will report seizure frequency, answer questionnaires, and report side effects. Participants will be randomly assigned to one of two groups. Randomization is stratified by age band (\<7 years vs. ≥7 years) and baseline seizure frequency (≤5 vs. \>5 daily seizures). One group will begin treatment immediately; the other group will have a 6-week observation period before starting treatment. All participants will receive phenylbutyrate. Treatment lasts up to 18 weeks with the option to extend for up to 3 years. Follow-up occurs at 18 weeks. If extending treatment, additional follow-up occurs at 6 months, 1 year, and then annually. Participation is completely voluntary. There is the risk of adverse events from the study drug, phenylbutyrate, including hospitalization from metabolic acidosis. There is the risk of loss of confidentiality of your medical and personal information collected for this study. This study does not replace emergency medical care. This is a fully remote study. Participants may enroll from any U.S. state. No facility visit is required.
- Status (registry)
- Recruiting
- Phase (registry)
- Phase 2
- Study type
- Interventional
- Enrollment
- 20 (estimated)
- First submitted
- 9 Apr 2026
- Start date
- Oct 2026
- Primary completion date
- Mar 2029
- Lead sponsor
- Scripps Translational Science Institute
- Diseases
- Epilepsy
- NCT number
- NCT07847918
What you commit to
- Study type: Interventional · Phase 2
- Planned participants: 20
- From Oct 2026 to the primary completion date, Mar 2029
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Epileptic spasms within the 6 months prior to enrollment
- Participation in another interventional investigational study within 30 days or 5 half-lives of the investigational product, whichever is longer
Other illness
- Pancreatic insufficiency or intestinal malabsorption
- Known hypersensitivity to phenylbutyrate or any of its components
- Any condition that in the investigator's judgment would interfere with study participation or safety monitoring
- This is a fully remote study. Participants may enroll from any U.S. state. No facility visit is required.
Lab values
- Hepatic impairment (AST or ALT \>2× the upper limit of normal)
- Renal impairment (eGFR \<60 mL/min/1.73m²)
- Thrombocytopenia (platelet count \<150 × 10³/μL)
Other
- Larger 3p25 chromosomal deletion extending beyond SLC6A1 and SLC6A11 to encompass additional genes
- Early-infantile developmental and epileptic encephalopathy (DEE) phenotype
- Inborn errors of beta-oxidation
- Current use of alfentanil, quinidine, cyclosporine, or probenecid due to clinically significant interactions with phenylbutyrate based on CYP3A4 modulation
- Pregnancy or breastfeeding
Who the study is looking for
- Confirmed diagnosis of SLC6A1-related disorder based on a pathogenic or likely pathogenic variant in the SLC6A1 gene
- Age 2-60 years at time of consent
- Active clinical seizures, defined as ≥4 seizures in the 4 weeks prior to enrollment
- Seizures persisting despite an adequate trial of ≥2 prior antiseizure medications at therapeutic doses
- Stable antiseizure medication regimen for ≥4 weeks prior to enrollment
- Parent, legal guardian, or legally authorized representative (LAR) able to provide informed consent and participate in digital follow-up assessments
- Local licensed physician identified for ordering laboratory testing, EEG, and clinical evaluation as needed
- English-speaking caregiver for consent and study communication
Age in the registry: 2 years to 60 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Scripps Research Translational Institute Coordinator of this site? Confirm its status | San Diego | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.