Rare Disease Trial, By Invitation
Who may be able to join
AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
Who might be able to join this trial:
- A parent, legal guardian, or the patient themselves must be willing and able to give their agreement to take part in the study
- Both males and females of any age can apply
- The patient must have a suspected or confirmed diagnosis of SLC13A5 deficiency (a rare genetic condition), meaning they have changes in both copies of the SLC13A5 gene along with matching symptoms — patients with uncertain genetic results may still qualify if their doctor and the study team think they are a good candidate (confirm with trial site)
- The patient and their caregiver must be willing to share medical information and take part in standardized tests and assessments
Who may not be able to join:
- People who have been confirmed to have a second, separate condition — whether genetic or not — that affects brain development or causes symptoms that overlap with SLC13A5 deficiency
Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
GP referral letter
Print a one-page summary to share with your doctor.
Trial details
Where this trial is recruiting
Primary endpoints
SLC13A5 deficiency motor scale assessments.; Developmental assessment at baseline and longitudinally using Vineland 3; Seizure burden and semiology
Can't join this trial?
Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.