Clinical Trial

SLC13A5 Deficiency Natural History Study - United States Only

Enrolling by Invitation
View on ClinicalTrials.gov →
Record status
This record was last updated August 5, 2025 (before its estimated September 30, 2025 completion). Its status may not reflect the trial's current state.
Summary
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life. This natural history study is designed to address the lack of understanding of disease progression. Additionally it will identify clinical and biomarker endpoints for use in future clinical trials.
Protocol Amendment History 3 amendments
This ClinicalTrials.gov record has been amended 3 times since 2023-11-17; most recent amendment 2025-07-30.
Status change: Recruiting → Enrolling by Invitation 2025-07-30
Trial Details
NCT Number NCT06144957
Lead Sponsor TESS Research Foundation
Collaborators: Stanford University, Brown University, University of Texas Southwestern Medical Center
Conditions Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders, Genetic Disorder, SLC13A5 Deficiency, EIEE25, Kohlschutter-Tonz Syndrome (Non-ROGDI) +2 more
Enrollment 17 participants
Start Date 2021-12-01
Primary Completion 2025-09-30 (estimated)
Study Completion 2025-09-30 (estimated)
Updated on ClinicalTrials.gov 2025-08-05