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Edison Pharmaceuticals Announces Initiation of NIH-Sponsored EPI-743 Clinical Trial with NIH Undiagnosed Diseases Program Patients

MOUNTAIN VIEW, Calif., Sept. 24, 2013 /PRNewswire/ -- Edison Pharmaceuticals announced today initiation of a phase 2 clinical trial titled "Therapeutic Trial of EPI-743 in Patients with Disorders of Energy Utilization or Oxidation-Reduction."

The trial is a double-blind, placebo-controlled crossover study in which subjects will receive either EPI-743 treatment or placebo for six months. They will then be crossed over to the other arm (treatment or placebo). Eligible subjects must possess defined or undefined genetic diagnoses that feature cellular oxidation/reduction or energy production defects.

Those children absent a genetic diagnosis will be recruited through the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP). The principle enrollment criterion stipulates that all subjects must have a neuromuscular disorder of suspected mitochondrial or metabolic etiology. All subjects will also be enrolled in a clinical trial studying the natural history of metabolic disorders. Prior to enrollment, patient cells will be analyzed in the laboratory to verify that the cells display biochemical abnormalities associated with mitochondrial disease and can be rescued by EPI-743. 

The primary endpoints in this study are improvement in disease severity and quality of life as measured by the Newcastle Pediatric Mitochondrial Disease Scale. Secondary outcome measures include neuromuscular function and disease-related biochemical markers. More information on study specifics is available on

Of the approximately 4 million children born each year in the United States, an estimated 4,000 will have a mitochondrial disease. However, this may be an underestimation of true disease prevalence, since many pediatric neuromuscular patients present with laboratory and clinical findings consistent with energy or mitochondrial dysfunction absent a genetic diagnosis. The objective of the study is to evaluate responsiveness to EPI-743, including subjects who do not possess a genetic diagnosis.

"This is a pioneering study for the National Human Genome Research Institute (NHGRI)," said NHGRI Clinical Director William Gahl, MD, PhD, who also is director of the UDP. "If successful, it will offer the potential for treatment for clinically devastating pediatric neurological disorders. The study can also provide diagnostic clues regarding the causes of rare and undiagnosed diseases."

UDP was started in 2008 to address the unmet medical need of patients with complex, multisystem disorders. Details of the program and its accomplishments were recently reported in Genetics in Medicine (The National Institutes of Health Undiagnosed Diseases Program: Insights into rare disease, 2012;13:51-59).  The UDP multidisciplinary team combines sophisticated cutting-edge basic science and molecular diagnostic techniques with high-level clinical care to provide diagnoses and therapies for patients with previously undiagnosed diseases.

Edison Pharmaceuticals
Edison Pharmaceuticals is a biotechnology company dedicated to developing treatments for children and adults with mitochondrial diseases. More information can be found at

SOURCE Edison Pharmaceuticals
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