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SLC13A5 Deficiency Natural History Study - United States Only

NCT06144957 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 17

Last updated 2025-08-05

No results posted yet for this study

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.

Conditions

Sponsors & Collaborators

  • Stanford University

    collaborator OTHER

  • Brown University

    collaborator OTHER

  • University of Texas Southwestern Medical Center

    collaborator OTHER

  • TESS Research Foundation

    lead OTHER

Principal Investigators

  • Brenda E Porter, MD, PhD · Stanford University

  • Kimberly Goodspeed, MD, PhD · University of Texas Southwestern Dallas

  • Judy Liu, MD, PhD · Brown University

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-12-01
Primary Completion
2025-09-30
Completion
2025-09-30

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06144957 on ClinicalTrials.gov