SLC13A5 Deficiency Natural History Study - Remote Only

Enrolling by invitation

Conditions studied: Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders, Genetic Disorder, SLC13A5 Deficiency, EIEE25, Kohlschutter-Tonz Syndrome (non-ROGDI), 17p13.1 Deletions Confined to SLC13A5 Gene, Citrate Transporter Disorder

In brief

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 and genotype-phenotype correlation. Additionally it will help in identifying clinical endpoints for use in future clinical trials.

Key facts

Study ID

NCT04681781

Run by

TESS Research Foundation

People needed

20

Starts

2021-03-01

Expected to finish

2025-09-01

Last updated by the study team

2024-11-22

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of SLC13A5 deficiency.

Where it is running

• Lucille Packard Children's Hospital, Stanford University — Palo Alto, California, United States

Full record on ClinicalTrials.gov

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