TESS Research Foundation

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SLC13A5 Epilepsy, also known as SLC13A5 Deficiency or Citrate Transporter Disorder, is a newly discovered genetic cause of epilepsy. Most people with SLC13A5 epilepsy experience seizures, movement disorders, and developmental delay.

Last updated May 2024

Clinical
Disease Class
Rare genetic diseases
Rare inborn errors of metabolism
Rare neurological diseases
Rare odontological diseases
Body Systems
Metabolic
Nervous / Sensory
Organs
Bones
Brain
Ductus deferens
Fallopian tubes
Kidneys
Liver
Mouth / teeth
Muscles
Ovaries
Penis
Prostate gland
Scrotum
Testes
Uterus
Genes
SLC13A5
Type of Inheritance
Autosomal recessive
Disease Mechanism(s)
Citrate transporter disorder
Inborn errors of metabolism
Age of Onset
Infancy (age 0-1)
Incidence
Less than 10
Prevalence
51-100
Populations and/or ancestry with higher prevalence
Middle East, Iceland
Symptoms / Phenotypes
balance problems
developmental delay
feeding difficulties
hypodontia
intellectual delay / global developmental delay
movement disorders / ataxia / tremor
muscle weakness
seizures / epilepsy
sleep disorders
spasticity
speech delay
Biomarkers
Diagnostic
· genetic testing, elevated citrate in plasma or CSF, tooth abnormalities (minimal enamel), seizures beginning in hours/days after birth, movement disorder (ataxia)
Monitoring
· neurological/physical exam, movement disorder exam/recording, sleep disturbance scale, seizure and medication log, laboratory studies (citrate levels), neuropsychological testing (Mullen, Vineland, Peabody), EEG, Global impression of change, vital signs/growth parameters, Caregiver and quality of life reports
Prognostic
· Seizure burden/EEG, MRI, development
Therapeutic
· neurological/physical exam, movement disorder exam/recording, sleep disturbance scale, seizure and medication log, laboratory studies (citrate levels), neuropsychological testing (Mullen, Vineland, Peabody), EEG, Global impression of change, vital signs/growth parameters, Caregiver and quality of life reports
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· many supplements, including TCA cycle intermediaries continue to be tried by families but none are proven helpful
Drugs approved for the symptoms
Drugs used off-label
· acetazolamide, NMDA medications (namenda)
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
NPCs
Plasma
Cell Lines, location
Baylor College of Medicine
Neurolentech
University of North Carolina (UNC)
Cell Lines, share
Yes
Disease Model
Drosophila/fly
Mouse
Rat
Yeast
Zebrafish
Disease Model, location
Baylor College of Medicine
Brown University
Jackson Laboratories (JAX)
Neurolentech
Texas Tech University Health Science Center (TTUHSC)
University of Calgary
University of North Carolina (UNC)
Disease Model, share
Yes
Clinical Trial Role
Data sharing
Focus group
Funding
Meeting with regulators
Outcome measures, development
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Results dissemination, publication
Study material design, review (not protocol)
Study protocol design, review
Travel coordination
Biobank
Baylor College of Medicine
CCR Fertility
Coriell Institute
Stanford University
University of North Carolina (UNC)
University of Texas Southwestern Medical Center (UTSW)
Center of Excellence
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Genetic data
Patient contact info
Data Entered by, Registry
Patients
Platform, Registry
REDCap
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
Beneufit
Ciitizen
REDCap
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We are working on obtaining an ICD-10 code
Diagnostic Guidelines
In the process of creating diagnostic guidelines
Clinical/Treatment Guidelines
In the process of creating clinical/treatment guidelines
Organizational Roles
Director of Operations/Director of Development
Executive Director
Research/Scientific Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN and willing to share policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
None