Edison Pharmaceuticals today announced positive results of a recently completed phase 2A study entitled, "Prospective Open Label Study of EPI-743 in Children with Leigh Syndrome (Subacute Necrotizing Encephalomyelopathy)." The study was conducted at the Ospedale Pediatrico Bambino Gesu– the Vatican's children's hospital, Rome, Italy.
Ten children with seven differing subtypes of Leigh syndrome, ranging in age from 1-13 years, were treated with EPI-743. All ten children exhibited reversal of disease progression as measured by four different disease-relevant metrics. The clinical response was durable over 180 days. No significant safety events were observed.
The results of the clinical trial were published on-line September 10, 2012 in the journal Molecular Genetics and Metabolism.
Findings obtained in this prospective phase 2 controlled study confirm previous clinical results obtained in the United States and Europe.
Leigh syndrome is an inherited lethal, progressive, predominately pediatric, neuromuscular disorder for which there are no approved treatments. Initially described in 1951, the hallmarks of the disease include bilateral necrosis (death) of central nervous system regions responsible for the control of breathing and other neurologic functions. Leigh syndrome belongs to a large family of disorders identified as "mitochondrial disease." The disorders share as a common biochemical feature defects in cellular energy metabolism.
EPI-743 is an orally bioavailable small molecule being developed by Edison Pharmaceuticals for the treatment of Leigh syndrome and other inherited mitochondrial diseases. EPI-743 is a member of the para-benzoquinone class of drugs. It serves as a cofactor for the novel drug target– NADPH quinone oxidase 1 (NQO1). Through a redox-based mechanism, EPI-743 augments endogenous glutathione biosynthesis– essential for the control of oxidative stress.
Results obtained in this trial represent the first published report of disease reversal in an otherwise progressive and fatal neurological disease.