Testing multi-sample methods to diagnose mitochondrial muscle disease
Part of Hormones & metabolism clinical trials.
This study looks for the cause of suspected mitochondrial diseases by combining multiple lab tests on muscle and skin samples, plus genetic testing results. If your current gene tests didn’t find an answer, this could help researchers learn what might be causing your condition.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a suspected mitochondrial disease with muscle-related signs
- Your mtDNA test and whole-exome (WES) trio genetic testing were negative
- You have routine muscle and skin biopsy samples available
- Family blood samples (parents and/or relatives) are available for tracking the genetic change
- You can sign the study consent (or your legal representative can)
- You have enough stored (frozen) sample material and skin/muscle processing works
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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