Clinical Trial: Development of a New Technique for Quantifying Mitochondrial DNA in Single Muscle Fibers

U.S., April 7 -- ClinicalTrials.gov registry received information related to the study (NCT07511608) titled 'Development of a New Technique for Quantifying Mitochondrial DNA in Single Muscle Fibers' on March 30.

Brief Summary: Mitochondrial diseases (MDs) are the most common metabolic disorders. Due to their great clinical and genetic heterogeneity, their diagnosis relies exclusively on the identification of pathogenic variants in nuclear genes or in mitochondrial DNA (mtDNA). However, to date, 50% of affected patients remain without a definitive diagnosis. The advent of next-generation sequencing (NGS) has improved diagnostic yield, but many identified variants remain of uncertain significance (VUS), preventing a definitive diagnosis. The...