Novel Therapy for Multiple Mitochondrial Diseases Now in Clinical Trials

Edison Pharmaceuticals is actively engaged in a number of phase 2 clinical trials investigating their drug candidate EPI-743 in a variety of mitochondrial respiratory chain diseases. The studies range from the more general “EPI-743 for Mitochondrial Respiratory Chain Diseases” to the more specific “Phase 2 Study of EPI-743 in Children With Pearson Syndrome,” “EPI-743 in Friedreich’s Ataxia Point Mutations,” and “Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome.”

According to the company website, “Edison Pharmaceuticals is dedicated to developing treatments for mitochondrial disease.” It has two drug candidates in its pipeline, the more advanced of which is EPI-743. It is an orally administered drug that is active in the brain to regulate enzymes that are a part of energy metabolism.

When used to treat thirteen children and one adult who were in end-of-life care due to a genetically-confirmed mitochnodrial disease, EPI-743 improved clinical symptoms in eleven patients by the end of the thirteen weeks of treatment. As reported by “Initial Experience in the Treatment of Inherited Mitochondrial Disease with EPI-743,” which was published in 2012 in Molecular Genetics and Metabolism, “EPI-743 has modified disease progression in >90% of patients in this open-label study as assessed by clinical, quality-of-life, and non-invasive brain imaging parameters.”

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The United States Food and Drug Administration took note of the positive impact EPI-743 has on patients with mitochondrial disease. In March 2014, the FDA granted fast track status for the development of the pharmaceutical to treat Friedreich’s ataxia, and in June 2014 the FDA granted orphan status to the pharmaceutical to treat Leigh Syndrome. These designations make it possible for the current clinical trials to seek lower enrollment numbers and to receive faster interaction between the company and the FDA.

The design of the currently ongoing trial entitled “EPI-743 for Mitochondrial Respiratory Chain Diseases” involves 87 participants who are all receiving EPI-743 (the trial is not randomized or placebo-controlled). Similar to the previous study, the patients treated in this study are within 90 days of end-of-life care, and patients one year of age and older were accepted to participate.

Primary outcomes of the trial include change in neuromuscular function over the course of thirteen weeks of treatment, adverse events, and change in Newcastle Pediatric Mitochondrial Disease Score. A secondary measure will require serial blood samples to measure the pharmacokinetics of EPI-743 after escalating doses are administered. If the study is on schedule, the treatment period should have ended in December 2014. Results may soon be expected for this trial.