Trials / Enrolling By Invitation

Enrolling By InvitationNCT06144957

SLC13A5 Deficiency Natural History Study - United States Only

SLC13A5 Deficiency: A Prospective Natural History Study - United States Only

Status: Enrolling By Invitation
Phase: —
Study type: Observational
Enrollment: 17 (estimated)

Sponsor: TESS Research Foundation · Academic / Other
Sex: All
Age: —
Healthy volunteers: Not accepted

Summary

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. Additionally it will identify clinical and biomarker endpoints for use in future clinical trials.

Detailed description

This is a longitudinal observational study of the natural history of SLC13A5 deficiency for up to 2 years. This study does not involve any therapeutic intervention. The study includes in-person clinical assessments and laboratory analyses including standardized clinical evaluations, neurocognitive and quality of life scales, video movement rating scale, laboratory measurements of blood and urine, EEG capturing wake and sleep, EKG. Additionally, remote assessments in 1st year (every 3 months) and 2nd year (every 4 months) of enrollment will be made and caregiver will be asked to keep a seizure diary for the duration of the study. Personnel having expertise to comprehensively evaluate biological pathways that are perturbed by SLC13A5 deficiency will analyze the collected data. Improved understanding of disease pathogenesis will guide therapeutics and reveal clinical and biomarker endpoints for use in future clinical trials.

Conditions

Timeline

Start date: 2021-12-01
Primary completion: 2025-09-30
Completion: 2025-09-30
First posted: 2023-11-22
Last updated: 2025-08-05

Locations

3 sites across 1 country: United States

Source: ClinicalTrials.gov record NCT06144957. Inclusion in this directory is not an endorsement.