Natural history study of SSADH deficiency in children and adults
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study tracks how SSADH deficiency (a genetic condition) affects health over time. There is no new drug being tested; instead, researchers collect medical history and perform certain optional scans/tests that can help describe disease patterns and future treatment needs.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You (or your child) must have 4-hydroxybutyric acid in the urine, also called GHBuria.
- You must have a confirmed harmful (pathogenic) ALDH5A1 gene change.
- Age can be from birth up to 99 years.
- You should not have active or recent substance misuse/dependence within the past year.
- You must be able to take part in the study’s procedures and tests.
- For MRI: you may be unable to join the MRI part if you have certain implants/metal in or near the body.
- For TMS: if you’re under 2 years old, you cannot do the TMS part of the study.
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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