Clinical Research Directory

Browse clinical research sites, groups, and studies.

1 clinical study listed.

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17p13.1 Deletions Confined to SLC13A5 Gene

Tundra lists 1 17p13.1 Deletions Confined to SLC13A5 Gene clinical trial. Each listing includes eligibility criteria, study locations, and direct links to research sites in the Tundra directory.

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ENROLLING BY INVITATION

NCT04681781

SLC13A5 Deficiency Natural History Study - Remote Only

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.

Gender: All

Updated: 2024-11-22

1 state

Citrate Transporter Deficiency

Epilepsy

Rare Diseases