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SLC13A5 Deficiency Natural History Study - Remote Only

NCT04681781 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2024-11-22

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 and genotype-phenotype correlation. Additionally it will help in identifying clinical endpoints for use in future clinical trials.

Conditions

  • Citrate Transporter Deficiency
  • Epilepsy
  • Rare Diseases
  • Movement Disorders
  • Genetic Disorder
  • SLC13A5 Deficiency
  • EIEE25
  • Kohlschutter-Tonz Syndrome (non-ROGDI)
  • 17p13.1 Deletions Confined to SLC13A5 Gene
  • Citrate Transporter Disorder

Sponsors & Collaborators

Principal Investigators

  • Brenda E Porter, MD, PhD · Stanford University

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-03-01
Primary Completion
2023-12-31
Completion
2025-09-01

Countries

  • United States

Study Locations

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Diseases
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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 NCT04681781 on ClinicalTrials.gov