Clinical Trial

SLC13A5 Deficiency Natural History Study - Remote Only

Enrolling by Invitation
View on ClinicalTrials.gov →
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 and genotype-phenotype correlation. Additionally it will help in identifying clinical endpoints for use in future clinical trials.
Protocol Amendment History 4 amendments
This ClinicalTrials.gov record has been amended 4 times since 2020-12-18; most recent amendment 2024-11-20.
Status change: Recruiting → Enrolling by Invitation 2023-06-27
Trial Details
NCT Number NCT04681781
Lead Sponsor TESS Research Foundation
Collaborators: Stanford University
Conditions Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders, Genetic Disorder, SLC13A5 Deficiency, EIEE25, Kohlschutter-Tonz Syndrome (non-ROGDI) +2 more
Enrollment 20 participants
Start Date 2021-03-01
Primary Completion 2023-12-31 (estimated)
Study Completion 2025-09-01 (estimated)
Updated on ClinicalTrials.gov 2024-11-22