ENROLLING_BY_INVITATION

SLC13A5 Deficiency Natural History Study - United States Only

Conditions

Citrate Transporter Deficiency Epilepsy Rare Diseases Movement Disorders Genetic Disorder SLC13A5 Deficiency EIEE25 Kohlschutter-Tonz Syndrome (Non-ROGDI)Citrate Transporter Disorder DEE25 Rare Disease Neonatal seizures autosomal recessive

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

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

Quick Facts

Study Start:2021-12-01

Study Completion:2025-09-30

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:ENROLLING_BY_INVITATION

Study ID

NCT06144957

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.

Ages Eligible for Study:Not specified

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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.

Inclusion Criteria

Exclusion 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.

Contacts and Locations

Principal Investigator

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 Locations (Sites)

Lucille Packard Children's Hospital, Stanford University

Palo Alto, California, 94304

United States

Brown University

Providence, Rhode Island, 02903

United States

University of Texas Southwestern Dallas

Dallas, Texas, 75390

United States

Collaborators and Investigators

Sponsor: 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

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2021-12-01

Study Completion Date2025-09-30

Study Record Updates

Study Start Date2021-12-01

Study Completion Date2025-09-30

Terms related to this study

Keywords Provided by Researchers

Epilepsy
Rare Disease
Movement Disorders
Genetic Disorder
Citrate Transporter Disorder
SLC13A5 Deficiency
EIEE25
Neonatal seizures
autosomal recessive
DEE25

Additional Relevant MeSH Terms

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