Follows people with SLC13A5 deficiency to learn how the disease progresses
Observes how SLC13A5 deficiency, a rare genetic disorder, changes over time in people.
Plain-language title generated from the registry record
Registry title: SLC13A5 Deficiency Natural History Study - United States Only
Key facts
- Where
- Dallas, Palo Alto, and Providence, United StatesSee the 3 sites
Where in United States
- University of Texas Southwestern DallasDallas, United StatesNo longer taking part
- Lucille Packard Children's Hospital, Stanford UniversityPalo Alto, United StatesNo longer taking part
- Brown UniversityProvidence, United StatesNo longer taking part
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- TESS Research Foundation
- Trial code
- NCT06144957
- Record updated
- 5 August 2025
- Original description
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.Read full original descriptionShow less
SLC13A5 Deficiency: A Prospective Natural History Study - United States Only
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.
Inclusion: 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.
Exclusion: The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of SLC13A5 deficiency; -.