NCT06144957Enrolling by invitation
SLC13A5 Deficiency Natural History Study - United States Only
SLC13A5 Deficiency: A Prospective Natural History Study - United States Only
Source: ClinicalTrials.gov · Last updated 5 Aug 2025 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
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.
- Status (registry)
- Enrolling by invitation
- Study type
- Observational
- Enrollment
- 17 (estimated)
- First submitted
- 7 Jan 2022
- Start date
- 1 Dec 2021
- Primary completion date
- 30 Sept 2025
- Lead sponsor
- TESS Research Foundation
- Diseases
- Epilepsy
- NCT number
- NCT06144957
What you commit to
- Study type: Observational
- Planned participants: 17
- From 1 Dec 2021 to the primary completion date, 30 Sept 2025
- 3 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- 1\. The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of SLC13A5 deficiency.
Other
- \-
Who the study is looking for
- 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.
Sex: All · Does not accept healthy volunteers
Sites (3)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| University of Texas Southwestern Dallas Coordinator of this site? Confirm its status | Dallas | United States | Unknown status |
| Lucille Packard Children's Hospital, Stanford University Coordinator of this site? Confirm its status | Palo Alto | United States | Unknown status |
| Brown University Coordinator of this site? Confirm its status | Providence | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.