SLC13A5 Deficiency Natural History Study - United States Only

Description

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

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

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Study Overview

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Study Details

Study overview

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.

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

SLC13A5 Deficiency Natural History Study - United States Only

Condition
Citrate Transporter Deficiency
Intervention / Treatment

-

Contacts and Locations

Palo Alto

Lucille Packard Children's Hospital, Stanford University, Palo Alto, California, United States, 94304

Providence

Brown University, Providence, Rhode Island, United States, 02903

Dallas

University of Texas Southwestern Dallas, Dallas, Texas, United States, 75390

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Parent(s)/legal representative and/or patient must be willing and able to give informed consent/assent for participation in the study.
  • 2. Males and females of any age are eligible for this study
  • 3. Suspected or confirmed diagnosis of SLC135 deficiency with genetic variants in both SLC13A5 alleles and consistent clinical characteristics. Variants of uncertain significance in one or both alleles are acceptable if deemed good candidates by participant's primary geneticist or neurologist and study personnel.
  • 4. Participant and caregiver must be willing to provide clinical data, participate in standardized assessments, and provide biological samples.
  • 5. Willingness to travel to one of the three sites annually is favored, but not required.
  • 1. The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of SLC13A5 deficiency.

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

TESS Research Foundation,

Brenda E Porter, MD, PhD, PRINCIPAL_INVESTIGATOR, Stanford University

Kimberly Goodspeed, MD, PhD, PRINCIPAL_INVESTIGATOR, University of Texas Southwestern Dallas

Judy Liu, MD, PhD, PRINCIPAL_INVESTIGATOR, Brown University

Study Record Dates

2025-12-01