Clinical trialNCT04681781Enrolling, by, invitationObservational

SLC13A5 Deficiency Natural History Study - Remote Only

SponsorTESS Research FoundationEnrollment2017p13.1 Deletions Confined to SLC13A5 GeneCitrate Transporter DeficiencyCitrate Transporter DisorderEIEE25EpilepsyGenetic 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 and genotype-phenotype correlation. Additionally it will help in identifying clinical endpoints for use in future clinical trials.

clinicaltrials.gov ↗

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 ↗

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

1 registered facility, 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

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 Mar 2021
Primary completion: 31 Dec 2023
Completion: 1 Sept 2025
Last update posted: 22 Nov 2024
Registered enrollment: 20
Registry id: NCT04681781

clinicaltrials.gov ↗

Source: ClinicalTrials.gov, via the CTTI AACT database, data as of 4 Nov 2026. Registry facts are shown as registered by the study sponsor; FindMyKOL does not interpret them.