Addressing Patients’ Needs for Compounded “Mito Cocktails” to Treat Mitochondrial Disease

Addressing Patients’ Needs for Compounded “Mito Cocktails” to Treat Mitochondrial Disease

mitochondrial diseaseOne young patient led a childhood marked by diabetes, epilepsy and immune deficiency. Instead of playing in the park, he spent time in bed, exhausted and fighting infections. Another 5-year-old boy was happy and energetic one minute, tired and in pain the next. Both boys were developmentally delayed. All of their symptoms were caused by mitochondrial disease. With compounded “mito cocktails” containing nutrients and supplements, they can maintain enough energy to enjoy childhood. Compounding pharmacists are essential for formulating a precise mix of ingredients for the cocktail. They can also help by reaching out to talk about topical treatments to relieve muscular pain.

Complex Functions of Mitochondria

Mitochondria are often associated with one primary role—energy synthesis—but out of the 3,000 genes needed to encode a mitochondrion, only 100 are used to direct the synthesis of ATP. The remaining 2,900, or 97 percent of the total genes, direct other metabolic pathways used to build up and break down cellular building blocks such as nucleic acids, proteins, lipids and glycans.1 Mitochondria are the only cellular organelles with their own DNA, but they’re also encoded by nuclear DNA. The two types of DNA combined with extensive systemic influence result in many manifestations of mitochondrial disorders. The most basic qualities of mitochondrial diseases include the following:

  • Most mitochondrial diseases are inherited; they can arise from defects in mitochondrial or nuclear DNA.
  • They occur at any age.
  • While all mitochondrial disease are marked by broad energy deficits and increased oxidative stress, clinical features vary depending on the body system affected. Since they may impact the nervous, visual, auditory, neuromuscular, cardiovascular, gastrointestinal and endocrine systems—or any combination of systems—symptoms are complex.2 However, certain symptoms cluster into recognizable syndromes, such as:3
    • MELAS—Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like Episodes
    • MERRE—Myoclonic Epilepsy and Ragged-Red Fiber Disease
    • Kearns-Sayre Syndrome—progressive external ophthalmoplegia
    • Pearson’s Syndrome—mitochondrial cytopathy with anemia, neutropenia, thrombocytopenia and variable hepatic, renal and endocrine failure.

Mitochondrial disorders can occur when the mitochondria are damaged rather than through inborn genetic defects. These variations are often associated with amyotrophic lateral sclerosis and Alzheimer’s, Parkinson’s and Huntington’s diseases. Mitochondrial disease may also have a role in some development disorders, diabetes, cardiomyopathy and other chronic diseases.

Pharmaceutical Treatment of Mitochondrial Disease

Pharmacotherapy for mitochondrial disease targets dysfunctions in the body system affected, which often requires diverse pharmaceutical interventions. For example, mitochondrial disease can cause dysautonomia, or dysfunction of the autonomic nervous system. Potential symptoms of dysautonomia that may require simultaneous treatment include nausea, vomiting, vision problems, orthostatic hypotension, heat intolerance and gut dysfunction.

In September 2015, the European Commission approved idebenone for treating the mitochondrial disease Leber’s Hereditary Optic Neuropathy.4 Clinical trials are studying medications such as omaveloxolone, cysteamine bitartrate and alpha-tocotrienol quinone for their potential to treat mitochondrial diseases. Meanwhile, a laboratory study published in June 2015 reported that several medications show promise for improving symptoms specific to mitochondrial disease:5

  • Rapamycin and probucol block signaling molecules that trigger protein translation. Rapamycin improved kidney function in mice, while probucol improved physiological functioning and lifespan of worms
  • Cycloheximide and lithium resulted in significant improvement in cellular respiratory function. They restored dysregulated translation and autophagy processes.

Roles for compounding pharmacists:

Exercise is an important part of treatment because it increases the number of healthy mitochondria and yields more energy. The problem is that individuals with mitochondrial disease often experience pain or muscle cramps when they are active. Some physicians may prescribe pain medications, including tricyclic antidepressants, for patients with severe pain. Other options are available via compounding, but you’ll need to reach out and talk about topical treatments to relieve pain and muscle cramps. Let patients know that you can formulate combinations of medications and a variety of delivery methods that are suitable for their specific needs.

Patients Need Compounding Pharmacists to Prepare “Mito Cocktails”

In addition to any appropriate medications, first-line treatment for mitochondrial disorders consists of nutrients and other supplements to support energy production. Many patients need large doses of multiple nutrients and the most convenient way to get them is with “mito cocktails” that mix all the ingredients into one dose. Patients often need therapeutic-strength doses, so they’ll come to you with a prescription.

Be aware that recipes for mito cocktails—including dosages for various mixtures of the most common ingredients—are available online. Patients may be tempted to follow these recipes, especially if they don’t understand that their illness requires targeted nutritional support. Compounding pharmacists should counsel individuals about the importance of having their supplement needs precisely determined with diagnostic tests. Getting a prescription may also help them purchase their mito cocktail because it proves the ingredients are medically necessary and reimbursable by insurance.

In addition to vitamins, minerals, electrolytes, amino acids and antioxidants, these ingredients are frequently used in a mito cocktail and they’re approved as medically necessary6:

  • Coenzyme Q-10 is an antioxidant and coenzyme required for ATP synthesis. It’s recommended by most mitochondrial specialists as an essential supplement.
  • L-arginine increases levels of nitric oxide and is recommended for patients with stroke-like symptoms.
  • Creatine is stored in muscles, converted into phosphocreatine and used for energy when muscle activity increases. It may also help prevent muscle wasting.
  • L-Carnitine helps metabolize fats into energy.
  • Alpha-lipoic acid is an antioxidant that protects mitochondria from oxidative stress.

Network With Physicians to Connect With Mito Patients

It’s hard to predict the number of patients you might encounter, but the minimum prevalence rate is 1 in 5,000 for diseases caused by defects in the mitochondrial DNA. Mutations in nuclear DNA are estimated to add another 2.9 cases for every 100,000 adults.7 This group of patients relies heavily on pain relief that facilitates exercise and compounded mito cocktails to maintain health. Reach out to mitochondrial specialists, neurologists and pediatricians in your area to let them know you’re available to help with compounding expertise.

Pharmaceutica North America is a leading provider of custom compounding kits and the bulk active pharmaceuticals compounding pharmacists need to treat patients with mitochondrial disorders. Please contact us to learn more about how we can fill your pharmaceutical needs.

Show 7 footnotes

  1. “What is Mitochondrial Disease?”
  2. “Mitochondrial Disease Clinical Manifestations: An Overview,” May 2011
  3. “Mitochondrial Disorders Overview,” August 2014,
  4. “European Commission Grants Raxone the First Medicine for Leber’s Hereditary Optic Neuropathy,” September 2015,
  5. “Inhibiting Cytosolic Translation and Autophagy Improves Health in Mitochondrial Disease,” June 2015,
  6. “Financial Assistance for the Mito Cocktail,” December 2010,
  7. “Prevalence of Nuclear and Mitochondrial DNA Mutations Related to Adult Mitochondrial Disease,” May 2015,

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