SLC13A5 Deficiency Natural History Study - Remote Only

Launched by TESS RESEARCH FOUNDATION · Dec 18, 2020

Keywords

ClinConnect Summary

This is a long-term, observational study of SLC13A5 deficiency (also called Citrate Transporter Disorder or EIEE25). Researchers will follow participants for up to 2 years to learn how the condition progresses and to identify signs that could help in planning future trials. There is no treatment given by the study itself; instead, researchers will collect information through remote (phone or video) visits, caregiver-recorded movement videos, medical history reviews, and standard questionnaires to better understand the natural course of the disease.

Who can participate? Any sex and any age (child to older adult) with a genetically confirmed SLC13A5 deficiency (changes in both copies of the SLC13A5 gene) and compatible clinical features. Participants (or their parent/guardian) must consent to participate and provide access to medical data; there must not be another major neurodevelopmental disorder that would interfere with the study. Each participant will have an initial visit to gather history and records, plus review of prior brain imaging or EEG when available. Then remote assessments occur every 3 months in year 1 and every 4 months in year 2, including: a neurodevelopmental test (Vineland 3) at baseline, 6, 12, and 24 months; movement assessment from caregiver videos; a seizure diary to track seizure number and type; and caregiver quality-of-life and sleep questionnaires. The study is conducted by TESS Research Foundation with Stanford University, uses remote visits, and may share de-identified data with other researchers in the future.

Gender

ALL

Eligibility criteria

• 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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