Treatment for mitochondrial disorders.

Study answer

What this study found

Overall, there was no clear evidence supporting any of the reviewed pharmacological or nutritional interventions for meaningful clinical benefit in mitochondrial disorders. Some studies showed biochemical or surrogate improvements, such as increased CoQ10 levels with lower lactate at 1 minute of cycle ergometry, creatine-associated gains in handgrip strength by 19% and NIDFT by 11%, and DCA-associated reductions in lactate and brain MRS ratios, but these effects were inconsistent and did not reliably translate into clinical improvement. The larger DCA trial found no significant differences…

Study & population

Systematic review of randomized and cross-over trials in children and adults with confirmed primary mitochondrial disorders.

Intervention

This review evaluated multiple active regimens used in primary mitochondrial disorders, including coenzyme Q10, creatine monohydrate, dimethylglycine, and a whey-based cysteine supplement, compared with placebo or other inactive comparators in randomized or cross-over trials.

Key limitation

Evidence was limited by small sample sizes, heterogeneous mitochondrial phenotypes, and frequent use of cross-over designs.

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Original abstract