Edison Pharmaceuticals to Provide Expanded Access to EPI-743 for Mitochondrial DiseaseBy Edison Pharmaceuticals Inc., PRNE
Tuesday, June 7, 2011
MOUNTAIN VIEW, California, June 8, 2011 -
- FDA allows use of investigational new drug for life-threatening
Edison Pharmaceuticals, Inc. announced today that the U.S. Food and Drug
Administration (FDA) has allowed an Expanded Access program to provide
EPI-743 to seriously ill patients diagnosed with inherited respiratory chain
diseases of the mitochondria. Patients with genetically confirmed disease and
patients who meet specific clinical criteria, absent genetic confirmation are
As of June 1, 2011, 40 seriously ill subjects diagnosed with genetically
confirmed inherited mitochondrial disease have been treated with EPI-743
worldwide for a cumulative exposure of over 7,436 days. No significant
drug-related adverse events have been observed. Initial clinical, biomarker,
and brain-imaging data are encouraging. The company cautions that the data
obtained in these initial studies is preliminary and needs verification in
controlled prospective trials. Edison and its clinical investigator team are
working closely with FDA and the European Medicines Agency to expedite
prospective phase 2B/3 clinical trials. EPI-743 has received orphan
designation from FDA.
Clinical Trial Sites
Clinical trial enrollment sites have been established in North America at
Lucile Packard Children's Hospital- Stanford University Medical Center; Akron
Children's Hospital; Columbia University; Seattle Children's Hospital;
Medical University of South Carolina; Children's Hospital of Philadelphia;
and University of California, Los Angeles.
Additional trial sites are being established in Europe, Japan, and in
United Mitochondrial Disease Foundation
Friedreich's Ataxia Research Alliance
United States Food and Drug Administration
EPI-743 is an orally absorbed small molecule that readily crosses into
the central nervous system. It works by targeting an enzyme NADPH quinone
oxidoreductase 1 (NQO1). Its mode of action is to synchronize energy
generation in mitochondria with the need to counter cellular redox stress(1).
EPI-743 is in phase 2B/3 pivotal clinical trials.
About Inherited Mitochondrial Disease
Inherited mitochondrial diseases are genetic disorders that share as a
common link defects in how cells make and regulate energy. They can arise
through defects in genes located in the nucleus or mitochondria. An estimated
2,000 defects in nuclear DNA and 200 defects in mitochondrial DNA have been
identified that are pathogenic(2).
Inherited mitochondrial diseases are clinically diverse and poorly
understood. They can affect virtually any organ system in the body. As the
brain and muscle tissue use an extraordinary amount of energy, they are
dramatically affected by these disorders. Mitochondrial diseases often
present with central nervous system manifestations, but they also result in a
variety of other significant clinical signs that include diabetes, heart
failure, liver failure, deafness, blindness, renal insufficiency, and muscle
weakness and fatigue.
The incidence of mitochondrial disease is estimated at 1-5 in 10,000.
However, this number may underestimate the true number of people with
mitochondrial disease. While new genetic screening tools have made detection
of mitochondrial disease possible, the majority of individuals with a
clinical diagnosis of mitochondrial disease may not have a confirmatory
genetic diagnosis. Some estimates place the number of clinically diagnosed
mitochondrial disease patients without a genetic diagnosis- so called
mitochondrial syndromes- at 10 times the incidence of genetically defined
Science today is at the frontier of mitochondrial medicine. Certain
diseases that previously lacked a known cause are now being defined as
mitochondrial in etiology. It is possible that in the future mitochondrial
disease will be implicated in additional diseases, such as in the biology of
Edison Pharmaceuticals is a patient- and physician-founded company
devoted to developing new medicines to transform the lives of those diagnosed
with rare and neglected diseases. Currently, the company is focused on
inherited mitochondrial diseases for which there are no approved drugs. These
conditions are life-threatening and highly debilitating. Edison's specialized
skill set spans the discovery, development, and translation of redoxbased
(1) Shrader, W.D.; Amagata, A.; Barnes, A.; Enns, G.M.; Hinman, A.;
Jankowski, O.; Kheifets, V.; Komatsuzaki, R.; Lee, E.; Mollard, P.; Murase,
K.; Sadun, A.A.; Thoolen, M.; Wesson, K.; Miller, G.; alpha-Tocotrienol
quinone modulates oxidative stress response and the biochemistry of aging.
Bioorganic Medicinal Chemistry Letters, 2011;21(12):3693-3698.
Edison Pharmaceuticals, Inc., info at edisonpharma.com
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