Status:
ENROLLING_BY_INVITATION
SLC13A5 Deficiency Natural History Study - Remote Only
Lead Sponsor:
TESS Research Foundation
Collaborating Sponsors:
Stanford 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 for the natural history of SLC13A5 deficiency for up to 2 years. This study does not involve any therapeutic intervention. The study includes remote visits w...
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 SLC13A5 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 and participate in standardized assessments.
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 :
March 1 2021
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
September 1 2025
Estimated Enrollment :
20 Patients enrolled
Trial Details
Trial ID
NCT04681781
Start Date
March 1 2021
End Date
September 1 2025
Last Update
November 22 2024
Active Locations (1)
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1
Lucille Packard Children's Hospital, Stanford University
Palo Alto, California, United States, 94304