Observational Study for SLC13A5 Deficiency
This is an observational study for people with SLC13A5 deficiency (Citrate Transporter Disorder, also known as EIEE 25), a rare genetic disorder causing developmental delays and seizures. The study aims to better understand how the condition progresses and how genetic changes relate to symptoms. It will also help identify ways to measure treatment success for future studies. There are no treatments or interventions being tested in this study. To join, you must have a suspected or confirmed diagnosis of SLC13A5 deficiency with genetic changes in both SLC13A5 alleles and typical clinical signs. The study is looking to enroll 20 participants and its current status is unclear.
- Study design
- This is a longitudinal observational study, meaning it follows participants over time without any treatment. It plans to enroll 20 participants.
- What's involved
- You would have an initial remote visit to collect medical history and records. Then, assessments will be made through remote interviews every 3 months in the first year and every 4 months in the second year, for up to 2 years. You would also maintain a seizure diary and record brief videos for movement assessment.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed for up to 24 months to assess motor skills, development, and seizure activity.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
SLC13A5 Deficiency Natural History Study - Remote Only
At a glance
Conditions
NCT04681781
Where you'd take part
This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
Lucille Packard Children's Hospital, Stanford University
Palo Alto, Californiano site contact published
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- Brenda E Porter, MD, PhD · PRINCIPAL_INVESTIGATOR · Stanford University
Who to contact
This trial hasn't published a contact. View it on ClinicalTrials.gov
What this trial measures
- SLC13A5 deficiency motor scale assessments.Upto 24 months
Caregiver will be asked to record brief standardized videos capturing the degree of disordered movements. These videos will be made and reviewed for all assessment sessions. Different movements/tasks will be assessed on different scales ranging from 0 to 8. Lesser scores represent better outcome.
- Developmental assessment at baseline and longitudinally using Vineland 3Upto 24 months
The Vineland Adaptive Behavior Scales, Third Edition (Vineland 3) provides a comprehensive assessment of adaptive function and has been widely used in populations with intellectual and developmental disabilities. It is validated from birth to 90 years, and scores abilities across three core and two optional domains: communication, daily living skills, socialization, and motor skills and maladaptive behaviors, respectively. Completion time for the comprehensive interview is estimated at 50 minutes when all five domains are included. Reliability and validity are widely established. Vineland 3 Adaptive Behavior Scale questionnaire will be included in the remote interviews during the initial visit for baseline assessment and followed at 6 months, 12 months and 24 months for longitudinal neuropsychological assessment
- Seizure burden and semiologyUpto 24 months
Caregiver will be asked to log number and type of seizures for the 4 weeks prior to each remote interview in a seizure tracker form. Reportable seizure types are to include: simple partial seizures (focal onset with retained awareness) WITHOUT motor signs, simple partial seizures WITH motor signs, complex partial seizures (focal onset with impaired awareness), partial (focal) seizures with secondary generalization, absences, myoclonic seizures, clonic seizures, tonic seizures, atonic seizures, and generalized tonic-clonic seizures. In addition, to assess overall change in seizure burden in 4 months between the remote interviews, Seizure Global Impression of Change (Seizure GIC) will be filled at all the remote interviews. Caregiver global impression of change will be assessed using a seven-point Likert scale. In addition, caregiver impression of change in seizure frequency and duration will be assessed using a three-point Likert scale.