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SLC13A5 Deficiency Natural History Study - Remote Only
Recruiting
I'm InterestedTrial ID: NCT04681781
Purpose
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)
Eligibility
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.
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Recruiting
I'm InterestedContact Information
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305
Lindsay Chromik
650-497-0226