Nutritional Supplements for Mitochondrial Diseases Need Scientific Validation, Experts Contend

Nutritional Supplements for Mitochondrial Diseases Need Scientific Validation, Experts Contend

The use of vitamins and other nutritional supplements to treat mitochondrial diseases needs to be scientifically validated, a study contends.

The research, “Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems,” appeared in the journal Annual Review of Pathology: Mechanisms of Disease.

Defects in mitochondria, the cells’ power plants, can cause complex disorders that are potentially life-threatening. Patients can have a variety of symptoms, including developmental delays, chronic fatigue, muscle weakness, nerve pain, and inability to tolerate exercise. Scientists have identified approximately 300 genes in which inherited mutations lead to mitochondrial disease.

Given the lack of proven therapies for these conditions, mitochondrial disease patients frequently take various vitamins and supplements. However, the substances are largely unregulated, with no scientific studies backing up their reported effects.

“Our major objectives were to review the basic scientific evidence for compounds already being used in mitochondrial disease patients and to advocate a framework for rigorously evaluating their safety and efficacy in this population,” Marni J. Falk, one of the study’s authors, said in a press release. Falk is executive director of the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia (CHOP).

The study involved experts from eight centers. “There’s a large gap between the compounds that patients are routinely using and the degree to which those compounds have been scientifically tested,” Zarazuela Zolkipli-Cunningham, a neuromuscular specialist and one of the study’s co-authors, said.

An example is coenzyme Q10 (CoQ10), a compound that is involved in energy production in mitochondria. CoQ10 is an antioxidant, but there is no scientific evidence of its reported health benefits and no standardized formulations. Furthermore, the effects of CoQ10 may be significantly different in healthy people and in patients with a mitochondrial disease, because alterations in mitochondria affect any organ and system.

“Unlike prescription medications, which are closely regulated and standardized by the U.S. Food and Drug Administration, vitamins, dietary supplements, and medical foods are considered in our country to be in a separate regulatory category with much less stringent requirements,” Falk said. He added that not only is the regulation of nutritional products less stringent, but also “their claims are limited to optimizing general public health, not to treating specific diseases. So we know a lot less about their safety and efficacy in patients.”

The experts reviewed the primary nutritional substances used in mitochondrial disease, including vitamins and related substances (such as thiamine, folic acid, riboflavin, and nicotinic acid), metabolic-modifying substances (CoQ10, creatine, L-arginine), modulators of cell signaling (resveratrol), and a ketogenic diet.

 They called for all nutritional therapies to be rigorously tested using a variety of experimental models, including mice that model human mitochondrial disorders.

CHOP is evaluating possible therapies in cells, worms and zebrafish, aiming to discover therapies tailored to the specific mitochondrial disease of each patient. In collaboration with external partners, researchers plan to start four Phase 2 or Phase 3 studies soon. The program now has a dietitian in order to use nutrition for the benefit of mitochondrial disease patients.

“Our toolbox is so much better than what was available 20 years ago,” Falk said. However, a long road lies ahead until proven, effective nutritional therapies are available for mitochondrial disorders, she cautioned.


  1. Dr Tzipporah Bat Ami says:

    my concern as a physician of several mito patients is that your concerns will be used by the FDA to ban or control access to nutraceuticals. Physicians do have a capacity if trained to negotiate the quality assurance of supplements which are regulated for safety by the fda. only pharmaceuticals need the rigorous effectiveness trials because only pharma can afford to pay by then increasing the prices astronomically and limiting availability only to those with the insurance companies who will cover. and not all mito patients have the strength to fight with insurance. so if there is a patient for whom a specific agent works for years despite research that might question its general effectiveness the supplement will no longer be available because of the FDA or only through insurance if it is effective as the FDA removes nutraceuticals when pharma takes over to protect patents. My suggestion is to do the research which is very valuable and to clarify that supplements are regulated for safety in this country and they represent free choice that should never be taken over by the pharmaceutical trade. and that patients can seek physicians who have done additional training and are comfortable with their use. at the same time your research Dr Falk will help physicians to have more evidence behind their evidence based use.

    • John B. says:

      I agree, Dr. Bat Ami, and am also concerned over the future of neutraceuticals and have to wonder if there is some middle ground, neither FDA approved, without too much involvement from trained medical professionals such as yourself that would leave room for those who seek alternative and complementary treatments for their medical conditions. I’d hate to see such matters come down to either/or solutions, or roadblocks as the case may be, for treating what health issues people may have.


      • Dr Tzipporah Bat Ami says:

        thanks for your reply John. Wish more would do so. I agree with you. I just think there should be doctors who are available to help patients decide. But it should be condumers who decide. My comment was also addressed to the mitochondrial researchers who are unaware of the ramifications of thos good research on the FDA and legal and access issues and they should enclose a caveat that their research is not to be ised by the FDA to limit access but to better inform physicians. Please join petitions from the integrative health lobby to prevent access issues right now.

  2. Diego says:

    People with these diseases have no other choice. The pharma industry is failing. Governments are failing them because they don’t sponsor supplement research. There are so many supplements with a possible positive effect on these diseases but there is hardly any money given to sponsor clinical trials. Instead of pointing your finger to the patients, you should better point it to our governments for not caring for their people.

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