SLC13A5 Deficiency Natural History Study - United States Only
Public ClinicalTrials.gov record NCT06144957. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
SLC13A5 Deficiency: A Prospective Natural History Study - United States Only
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT06144957
- Recruitment status
- Enrolling by invitation
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 17 participants
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- Not listed
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Nov 30, 2021
- Primary completion
- Sep 29, 2025
- Completion
- Sep 29, 2025
- Last update posted
- Aug 4, 2025
2021 – 2025
United States locations
- U.S. sites
- 3
- U.S. states
- 3
- U.S. cities
- 3
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Lucille Packard Children's Hospital, Stanford University | Palo Alto | California | 94304 | — |
| Brown University | Providence | Rhode Island | 02903 | — |
| University of Texas Southwestern Dallas | Dallas | Texas | 75390 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT06144957, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Aug 4, 2025 · Synced Sep 6, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT06144957 live on ClinicalTrials.gov.