SLC13A5 Deficiency Natural History Study - Remote Only


I'm Interested

Trial ID: NCT04681781


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.

Official Title

SLC13A5 Deficiency: A Prospective Natural History Study - Remote Only (International)

Stanford Investigator(s)


Inclusion Criteria:

   1. Parent(s)/legal representative and/or patient must be willing and able to give
   informed consent/assent for participation in the study.

   2. Males and females of any age are eligible for this study

   3. 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.

   4. Participant and caregiver must be willing to provide clinical data and participate in
   standardized assessments.

Exclusion Criteria:

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



I'm Interested

Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305
Lindsay Chromik