Metabolite testing in blood and breath for metabolic conditions
Part of Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.
This study looks at chemicals in blood and breath to better understand metabolic conditions like epilepsy treated with a special diet, urea cycle disorders, and other inherited metabolic diseases. It may help improve diagnosis and monitoring.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are between 4 and 20 years old and have epilepsy that is not controlled by standard treatment, and you are following a ketogenic diet (a high-fat, low-carb diet).
- You are 4 years or older and have a confirmed diagnosis of a urea cycle disorder, organic aciduria, amino acidopathy, or fatty acid oxidation defect.
- You are a healthy adult (18 or older).
- You are able to give informed consent (or your parent/guardian can).
- You do not have any health issues that could make the study unsafe or affect the results, such as fever, lung problems, or other conditions that might interfere.
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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