SLC13A5 Deficiency Natural History Study - United States Only

Enrolling by invitation

Conditions studied: Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders, Genetic Disorder, SLC13A5 Deficiency, EIEE25, Kohlschutter-Tonz Syndrome (Non-ROGDI), Citrate Transporter Disorder, DEE25

In brief

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.

Key facts

Study ID

NCT06144957

Run by

TESS Research Foundation

People needed

17

Starts

2021-12-01

Expected to finish

2025-09-30

Last updated by the study team

2025-08-05

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Parent(s)/legal representative and/or patient must be willing and able to give informed consent/assent for participation in the study.
• Males and females of any age are eligible for this study
• Suspected or confirmed diagnosis of SLC135 deficiency with genetic variants in both SLC13A5 alleles and consistent clinical characteristics. Variants of uncertain significance in one or both alleles are acceptable if deemed good candidates by participant's primary geneticist or neurologist and study personnel.
• Participant and caregiver must be willing to provide clinical data, participate in standardized assessments, and provide biological samples.
• Willingness to travel to one of the three sites annually is favored, but not required.

You may not qualify if…

• The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of SLC13A5 deficiency.

Where it is running

• Lucille Packard Children's Hospital, Stanford University — Palo Alto, California, United States
• Brown University — Providence, Rhode Island, United States
• University of Texas Southwestern Dallas — Dallas, Texas, United States

Full record on ClinicalTrials.gov

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