SLC13A5 Deficiency Natural History Study - Remote Only

Part of paid clinical trials in Palo Alto, California.

Sponsor
TESS Research Foundation
Study ID
NCT04681781
Status
Enrolling By Invitation

Conditions

  • 17p13.1 Deletions Confined to SLC13A5 Gene
  • Citrate Transporter Deficiency
  • Citrate Transporter Disorder
  • 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 and genotype-phenotype correlation. Additionally it will help in identifying clinical endpoints for use in future clinical trials.

Key Dates

Start date
Mar 1, 2021
Status verified
Nov 2024
Primary completion
Dec 31, 2023
Completion
Sep 1, 2025

Study Design

Enrollment
20 participants (estimated)

Primary Outcome Measure

SLC13A5 deficiency motor scale assessments. [ Time Frame: Upto 24 months ]

Locations (1)

FacilityCityStateZIPSite coordinators
Lucille Packard Children's Hospital, Stanford UniversityPalo AltoCalifornia94304-

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, CA

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