Proof for Nutritional Interventions in Primary Mitochondrial Disorder Needed

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by Alice Melão |

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PMD nutritional supplements

A report from a past workshop promoted by the Office of Dietary Supplements (ODS), at the National Institutes of Health (NIH), and geared toward analyzing the use of nutritional interventions — including dietary supplements — in primary mitochondrial disorders (PMD) was recently published.

The report, “Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base,” was printed in the current issue of Molecular Genetics and Metabolism.

The December 2014 workshop aimed to identify research gaps and needs regarding the safety and effectiveness of nutritional interventions — including vitamins, minerals, and other dietary ingredients — in PMD.

Researchers, clinicians, patient advocacy groups, and federal partners participated to forge collaborations and develop a research agenda to promote nutritional interventions in PMD. Overall, the ultimate goal of the event was to improve patient care and general knowledge about mitochondrial function.

NIH’s National Center for Advancing Translational Sciences’ (NCATS) Office of Rare Diseases Research (ORDR) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the Wellcome Trust, and the United Mitochondrial Diseases Foundation (UMDF), were some of the international workshop’s co-sponsors.

Dietary supplements have been used in the management of PMD, mainly due to their potential benefits as proven in well-controlled trials for safety and effectiveness, but it has been hard for clinicians to provide appropriate instructions for the use of dietary supplements due to lack of guidelines.

At the workshop, several key points requiring intervention were identified that could allow a safe and efficient recommendation of dietary supplements for PMD in the future.

Because PMD are rare and very complex diseases that present clinical, phenotypic, and genetic extreme variability, it is still necessary to have well-defined clinical biomarkers that can allow a specific classification and characterization of PMD into therapeutic targetable subgroups.

Because the molecular mechanisms of dietary supplements in the case of mitochondrial dysfunction are poorly understood, it is also still necessary to perform pre-clinical studies and to test product combinations. This information, together with better PMD classification, is likely to pave the way for evidence-based clinical trials for dietary supplements.

Finally, a long-term goal determined by the mitochondrial disease community is to create a natural history study and a registry of patients with PMD that could enhance future research.

The groups agreed that new evidence-based therapeutic approaches for PMD will emerge through collaborations with patients, their families, and clinicians.