Remote study of SLC13A5 deficiency history
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study follows people with SLC13A5 deficiency to better understand how the condition changes over time, using surveys and clinical check-ins done remotely. If you (or your child) have this genetic condition, it may help researchers learn what symptoms to expect and how to track them.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You (or your parent/legal representative) can understand and agree to take part in the study.
- You have a suspected or confirmed diagnosis of SLC13A5 deficiency from genetic testing (changes in both copies of the gene).
- Your symptoms fit what doctors typically see with SLC13A5 deficiency.
- You and your caregiver are willing to share medical information and complete the study’s set questionnaires/assessments.
- You do not have another confirmed condition that could explain the brain/development symptoms instead of SLC13A5 deficiency.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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