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New developments in pharmacotherapy for Friedreich ataxia article

Current and emerging therapies for Friedrich’s Ataxia (FA) focus on reversing the deleterious effects of such deficiency including mitochondrial augmentation and increasing frataxin levels, providing the possibility of treatment options for this physiologically complex, multisystem disorder. In this review article, the authors discuss the current and prior in vivo and in vitro research studies related to the treatment of FA, with a particular interest in future implications of each therapy.

Since the discovery of FXN in 1996, multiple clinical trials have occurred or are currently occurring; at a rapid pace for a rare disease. These trials have been directed at the augmentation of mitochondrial function and/or alleviation of symptoms and are not regarded as potential cures in FA. Either a combination of therapies or a drug that replaces or increases the pathologically low levels of frataxin better represent potential cures in FA.

Article Highlights

  • No treatment or effective therapy for FRDA currently exists; however, clinical trials for multiple drugs are underway.
  • Classic grouping of FRDA therapies consists of those that augment mitochondrial function and those that increase frataxin levels; however, gene therapy and drugs that may ameliorate symptoms of FRDA are expanding.
  • Therapies tested related to mitochondrial functioning include: Idebenone, coenzyme Q10, EPI-743, VP-20,629, Deferiprone, Dimethyl Fumarate, Omaveloxolone, and deuterated fatty acids.
  • Therapies tested or in testing to increase frataxin include: EPO, tat-frataxin, interferon gamma, HDAC inhibition, and nicotinamide.
  • Gene therapy: murine model studies have shown promise in their prevention and reversal of both cardiomyopathy and sensory ataxia in FRDA. Some challenges in translating these results in human subjects have been resolved, but other hurdles remain.

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