Study of genetic and natural history of PDC deficiency
Part of Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.
This study looks at how pyruvate dehydrogenase complex (PDC) deficiency affects people over time and what genes are involved. It mainly helps by building genetic and health data, which may improve future care and understanding of the condition.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have test results showing low PDC activity in a sample (skin cells, blood cells, or a muscle biopsy), or you have a known disease-causing (pathogenic) gene mutation related to PDC deficiency
- You have already had testing for PDHA1 and/or genetic testing that points to PDC deficiency
- If you are a first- or second-degree relative, you are being asked because a primary family member has genetic variants of unknown significance (VUS)
- You can provide the needed blood or tissue sample (or, if it’s a relative study, the needed blood sample)
- You are willing to join the NAMDC Patient Data Registry and provide samples for the biorepository study
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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