Status:
ENROLLING_BY_INVITATION
SLC13A5 Deficiency Natural History Study - United States Only
Lead Sponsor:
TESS Research Foundation
Collaborating Sponsors:
Stanford University
Brown University
Conditions:
Citrate Transporter Deficiency
Epilepsy
Eligibility:
All Genders
Brief Summary
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 desi...
Detailed Description
This is a longitudinal observational study of the natural history of SLC13A5 deficiency for up to 2 years. This study does not involve any therapeutic intervention. The study includes in-person clinic...
Eligibility Criteria
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
- 1\. The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of SLC13A5 deficiency.
- \-
Key Trial Info
Start Date :
December 1 2021
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
September 30 2025
Estimated Enrollment :
17 Patients enrolled
Trial Details
Trial ID
NCT06144957
Start Date
December 1 2021
End Date
September 30 2025
Last Update
August 5 2025
Active Locations (3)
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1
Lucille Packard Children's Hospital, Stanford University
Palo Alto, California, United States, 94304
2
Brown University
Providence, Rhode Island, United States, 02903
3
University of Texas Southwestern Dallas
Dallas, Texas, United States, 75390