NIH convened a workshop to address the evidence base for nutritional interventions in primary mitochondrial disease (PMD).
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Dietary supplements are commonly used as management modalities for PMD despite limited evidence of safety and efficacy.
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PMD are rare, clinically, phenotypically, and genetically heterogeneous, a challenge to conducting clinical trials.
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Resources to support clinical trials include patient registries and biorepositories, and common data elements.
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Future research is needed to define the diseases; identify biomarkers, outcome measures, and endpoints.
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