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17p13.1 Deletions Confined to SLC13A5 Gene clinical trials

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NCT ID: NCT04681781 Recruiting - Epilepsy Clinical Trials

SLC13A5 Deficiency Natural History Study - Remote Only

Start date: January 4, 2021
Study type: Observational

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.