SLC13A5 Deficiency Natural History Study - Remote Only

Launched by TESS RESEARCH FOUNDATION · Dec 18, 2020

Keywords

ClinConnect Summary

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 which will be done via telephone or remote video conferencing. Translators will be available during these remote visits for non-english speaking caregivers. The initial visit will consist of collecting a detailed medical history and medical records. Prior brain imaging and available EEGs will be collected and reviewed by the study neurologist. Neuropsychological assessments will be made using Vi...

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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