SLC13A5 Deficiency Natural History Study - United States Only

Part of paid clinical trials in Palo Alto, California.

Sponsor
TESS Research Foundation
Study ID
NCT06144957
Status
Enrolling By Invitation

Conditions

  • Citrate Transporter Deficiency
  • Citrate Transporter Disorder
  • DEE25
  • EIEE25
  • Epilepsy
  • Genetic Disorder
  • Kohlschutter-Tonz Syndrome (Non-ROGDI)
  • Movement Disorders
  • Rare Diseases
  • SLC13A5 Deficiency

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Dec 1, 2021
Status verified
Nov 2024
Primary completion
Sep 30, 2025
Completion
Sep 30, 2025

Study Design

Enrollment
17 participants (estimated)

Primary Outcome Measure

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: general evaluations [ Time Frame: Up to 24 months ]

Locations (3)

FacilityCityStateZIPSite coordinators
Lucille Packard Children's Hospital, Stanford UniversityPalo AltoCalifornia94304-
Brown UniversityProvidenceRhode Island02903-
University of Texas Southwestern DallasDallasTexas75390-

Find similar trials in Palo Alto, CA

By condition
Epilepsy
By specialty
NeurologyBrain disorders
By research site
Lucille Packard Children's Hospital, Stanford University· Palo Alto, CABrown University· Providence, RIUniversity of Texas Southwestern Dallas· Dallas, TX

Related Studies