Blood and urine test for rare metabolic diseases
Part of Genetic & congenital, Hormones & metabolism clinical trials.
This study uses a simple blood spot and urine test to look for chemical signs of rare metabolic diseases. It aims to improve early detection and understanding of these conditions across all ages, including healthy individuals.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You can be any age, from newborn to elderly.
- You may be a healthy volunteer with no known rare disease (newborn blood spot samples only, no urine).
- You may have a confirmed genetic metabolic disease or other confirmed rare disease affecting metabolism.
- You may have an autism spectrum disorder diagnosis (per standard criteria).
- You may be suspected of having a metabolic or rare disease, with testing still ongoing or not conclusive.
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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