Using RNA to diagnose mitochondrial disease
Part of Hormones & metabolism clinical trials.
This trial checks if looking at RNA from blood or skin cells can help diagnose suspected mitochondrial disease. It may help people who have a genetic variant of uncertain significance thought to affect mitochondria.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must have suspected mitochondrial disease based on standard symptoms
- You must have a genetic variant that is predicted to be possibly harmful by specific tools
- This variant must be in a gene linked to your symptoms and active enough in blood to be measured
- You need to sign a consent form (or a parent/guardian for minors)
- You cannot enter if the same variant has already been studied in another participant
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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