Clinical trialNCT06144957Enrolling, by, invitationObservational

SLC13A5 Deficiency Natural History Study - United States Only

SponsorTESS Research FoundationEnrollment17Citrate Transporter DeficiencyCitrate Transporter DisorderDEE25EIEE25EpilepsyGenetic Disorder+4 more conditions

View the registry record on ClinicalTrials.gov

Summary

The lay summary the sponsor registered on ClinicalTrials.gov.

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.

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Investigators

The overall officials registered on this study. Names that resolve to a findmyKOL profile link to it; the rest are shown as registered.

Brenda E Porter, MD, PhD
Stanford University
Principal Investigator
clinicaltrials.gov ↗
Judy Liu, MD, PhD
Brown University
Principal Investigator
clinicaltrials.gov ↗
Kimberly Goodspeed, MD, PhD
University of Texas Southwestern Dallas
Principal Investigator
clinicaltrials.gov ↗

A profile link is shown only when the registered name resolves to a person record with a confident, namesake-checked match; ambiguous names stay unlinked.

Sites

3 registered facilities, with the per-site recruitment status where the registry publishes one. ClinicalTrials.gov does not publish per-site enrollment counts.

United States

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

Site investigator names are published by ClinicalTrials.gov only while a study recruits, so completed studies list sites without them.

Drugs studied

No drug or biological interventions are in our data for this study. It may test a procedure, device or behavioral intervention, or the intervention list isn't in our current snapshot. See the registry record ↗. Why? →

Registration & key dates

Registry attributes as recorded on the ClinicalTrials.gov study record.

Start: 1 Dec 2021
Primary completion: 30 Sept 2025
Completion: 30 Sept 2025
Last update posted: 5 Aug 2025
Registered enrollment: 17
Registry id: NCT06144957

clinicaltrials.gov ↗

Source: ClinicalTrials.gov, via the CTTI AACT database, data as of 24 Aug 2026. Registry facts are shown as registered by the study sponsor; findmyKOL does not interpret them.