Tecfidera (also known as dimethyl fumarate, or DMF) is a drug therapy approved by the U.S. Food and Drug Administration (FDA) for the treatment of relapsing forms of multiple sclerosis (MS), as well as psoriasis. Recent research data point to the possibility of using this drug for treating a number of mitochondrial disorders, including Friedreich’s ataxia (FA).

FA is a rare genetic disorder caused by mutations in the FXN gene, which encodes for the frataxin protein. Frataxin is required for the normal functioning of mitochondria, the energy-producing factories of cells. Mutations in the FXN gene lead to a decrease in the production of frataxin and the consequent disruption in mitochondrial function. A recent study indicated this also leads to a decline in the number of mitochondria in the cells, further reducing the cell’s ability to produce energy. Together, these changes lead to the gradual but irreversible development of the typical symptoms observed in people with FA: Impairment of muscle coordination, loss of muscle strength and sensation, and impaired speech, vision, and hearing.

Available treatments are limited in their ability to manage the symptoms of the disease. Although there are many potential treatments in the pipeline, there still are no drug therapies that can cure the condition, or effectively slow its development.

How Tecfidera works

It is not clear how the therapeutic effect of Tecfidera comes about in people with MS, the main disease for which the drug is used. But it is thought that it activates a protein called Nrf2, which is involved in mitochondrial biogenesis, or the production of new mitochondria within the cells, and the response of the cell to oxidative stress. It is thought that through the action of Tecfidera, the number of mitochondria in the cells increases, improving the energetic balance of the cells. Scientists think this stimulating action of Tecfidera on mitochondrial biogenesis could be useful in diseases where mitochondrial function is affected, such as FA.

Tecfidera in clinical trials

Tecfidera has not been tested in clinical trials for the treatment of FA patients. It is very likely that such trials, once initiated, can be done relatively quickly, because the drug already has been tested in multiple populations of patients and is proven to have a good safety and tolerability record.

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