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:
- The patient (and/or their parent or legal guardian) must be willing and able to give consent to take part in the study
- People of any age, both male and female, may be eligible
- You must have a suspected or confirmed diagnosis of SLC13A5 deficiency (a rare genetic condition), with changes in both copies of the SLC13A5 gene and matching symptoms — genetic results that are uncertain may still be acceptable if the patient's specialist and study team agree they are a good candidate
- You and your caregiver must be willing to share medical information, take part in standardized assessments, and provide biological samples (such as blood or urine)
- Being willing to travel to one of the three study locations once a year is preferred, but is not required
Who may not be able to join:
- People who have a second confirmed condition — whether genetic or otherwise — 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
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Trial details
Where this trial is recruiting
Primary endpoints
Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: general evaluations; Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: vitals and biometrics evaluations; Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: neurologic evaluation; Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: dental evaluations; Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: clinical and research laboratory studies; Detailed phenotyping of the clinical course of SLC13A5 deficiency over tim...
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.