SLC13A5 deficiency natural history study (US only)
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study follows people with SLC13A5 deficiency (a rare genetic condition that affects brain development) to learn more about the disease over time. It collects health information, assessments, and samples to help understand the condition and plan future treatments.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your child must have a suspected or confirmed diagnosis of SLC13A5 deficiency (a rare genetic condition affecting brain development).
- Genetic testing must show changes in both copies of the SLC13A5 gene, but certain unclear changes may still be acceptable if your doctor and the study team agree.
- You must be willing to share medical information, take part in assessments, and provide blood or other samples for research.
- You cannot have another confirmed genetic or neurological disorder that could cause similar symptoms.
- Traveling to a study site in the US once a year is preferred but not required.
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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