SLC13A5 Deficiency Natural History Study

Status Enrolling by invitation

Clinical Trial 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.

Clinical Trial Description

This is a longitudinal observational study for the natural history of SLC13A5 deficiency for up to 2 years. This study does not involve any therapeutic intervention. The study includes remote visits which will be done via telephone or remote video conferencing. Translators will be available during these remote visits for non-english speaking caregivers. The initial visit will consist of collecting a detailed medical history and medical records. Prior brain imaging and available EEGs will be collected and reviewed by the study neurologist. Neuropsychological assessments will be made using Vineland Adaptive Behavior Scale version 3. Brief standardized videos recorded by the caregiver will be reviewed and scored by study personnel for movement assessment. Caregiver of ages 2 and up will be asked to complete the QOL Family Impact Module and the QOL epilepsy module. In addition to the initial visit, assessments in 1st year (every 3 months) and 2nd year (every 4 months) of enrollment will be made through remote interviews. Caregiver will be asked to maintain a seizure diary for the duration of the study to assess seizure burden. Personnel having expertise to comprehensively evaluate biological pathways that are perturbed by SLC13A5 deficiency will analyze the collected data. Improved understanding of disease pathogenesis will guide therapeutics and reveal clinical endpoints for use in future clinical trials. Identifying genotype-phenotype correlations can guide prognostication, clinical management, and genetic counseling. ;

Study Design

Related Conditions & MeSH terms

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

Clinical Trial Details

NCT number	NCT04681781
Study type	Observational
Source	TESS Research Foundation
Contact
Status	Enrolling by invitation
Phase
Start date	March 1, 2021
Completion date	September 1, 2025

View Details

See also
Status	Clinical Trial	Phase
Completed	`NCT04595513` - Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants	Phase 1/Phase 2
Completed	`NCT02909387` - Adapting Project UPLIFT for Blacks in Georgia	N/A
Completed	`NCT05552924` - Self Acupressure on Fatigue and Sleep Quality in Epilepsy Patients	N/A
Terminated	`NCT01668654` - Long-term, Open-label Safety Extension Study of Retigabine/Ezogabine in Pediatric Subjects (>= 12 Years Old) With POS or LGS	Phase 3
Not yet recruiting	`NCT05068323` - Impact of Interictal Epileptiform Activity on Some Cognitive Domains in Newly Diagnosed Epileptic Patients	N/A
Completed	`NCT03994718` - Creative Arts II Study	N/A
Recruiting	`NCT04076449` - Quantitative Susceptibility Biomarker and Brain Structural Property for Cerebral Cavernous Malformation Related Epilepsy
Completed	`NCT00782249` - Trial Comparing Different Stimulation Paradigms in Patients Treated With Vagus Nerve Stimulation for Refractory Epilepsy	N/A
Completed	`NCT03683381` - App-based Intervention for Treating Insomnia Among Patients With Epilepsy	N/A
Recruiting	`NCT05101161` - Neurofeedback Using Implanted Deep Brain Stimulation Electrodes	N/A
Active, not recruiting	`NCT06034353` - Impact of Pharmacist-led Cognitive Behavioral Intervention on Adherence and Quality of Life of Epileptic Patients	N/A
Recruiting	`NCT05769933` - Bridging Gaps in the Neuroimaging Puzzle: New Ways to Image Brain Anatomy and Function in Health and Disease Using Electroencephalography and 7 Tesla Magnetic Resonance Imaging
Not yet recruiting	`NCT06408428` - Glioma Intraoperative MicroElectroCorticoGraphy	N/A
Not yet recruiting	`NCT05559060` - Comorbidities of Epilepsy(Cognitive and Psychiatric Dysfunction)
Completed	`NCT02977208` - Impact of Polymorphisms of OCT2 and OCTN1 on the Kinetic Disposition of Gabapentin in Patients Undergoing Chronic Use	Phase 4
Completed	`NCT02646631` - Behavioral and Educational Tools to Improve Epilepsy Care	N/A
Completed	`NCT02952456` - Phenomenological Approach of Epilepsy in Patients With Epilepsy
Recruiting	`NCT02539134` - TAK-935 Multiple Rising Dose Study in Healthy Participants	Phase 1
Terminated	`NCT02757547` - Transcranial Magnetic Stimulation for Epilepsy	N/A
Completed	`NCT02491073` - Study to Evaluate Serum Free Thyroxine (FT4) and Free Triiodothyronine (FT3) Measurements for Subjects Treated With Eslicarbazeine Acetate (ESL)	N/A

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

SLC13A5 Deficiency Natural History Study - Remote Only

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms