Testing RAVICTI for PDH deficiency in young people
Part of Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.
This study tests if a medicine called Glycerol Phenylbutyrate (RAVICTI) is safe and helpful for children and young adults with a specific type of PDH deficiency, a rare genetic condition affecting energy use. If you qualify, you may get a new treatment option.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are between 2 and 25 years old.
- You have a confirmed diagnosis of pyruvate dehydrogenase (PDH) deficiency caused by specific gene changes (like missense variants in certain genes).
- You have not changed your treatment (like the ketogenic diet or vitamin B1) in the last 3 months.
- You do not have a planned hip or scoliosis surgery during the study.
- You agree to receive the flu vaccine (if your legal guardian allows it).
- You are not pregnant or breastfeeding, and if you can become pregnant or father a child, you use effective birth control.
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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