Initial Experience in the Treatment of Inherited Mitochondrial Disease with EPI-743

Molecular Genetics and Metabolism, In Press, Accepted Manuscript, doi:10.1016/j.ymgme.2011.10.009

Gregory M. Enns a, Stephen L. Kinsman b, Susan L. Perlman c, Kenneth M. Spicer d, Jose E. Abdenur e, Bruce H. Cohen f, Akiko Amagata g, Adam Barnes g, Viktoria Kheifets g, William D. Shrader g, Martin Thoolen g, Francis Blankenberg h, Guy Miller g i.

a Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA 94305–5208, USA
b Division of Neurosciences, Medical University of South Carolina, Charleston, SC 29425, USA
c Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
d Department of Radiology and Radiological Science, Medical University of South Carolina, Charleston, SC 29425, USA
e Department of Pediatrics, Division of Metabolic Disorders, CHOC Children's Hospital, Orange County, CA 92868, USA
f Department of Neurology, NeuroDevelopmental Science Center, Akron Children's Hospital, Akron, OH 44308, USA
g Edison Pharmaceuticals, 350 North Bernardo Avenue, Mountain View, CA 94043, USA
h Department of Radiology, Division of Pediatric Radiology, Lucile Packard Children's Hospital, Stanford, CA 94305, USA
i Adjunct Clinical Instructor, Department of Anesthesiology, Critical Care Medicine, Stanford University, Stanford, CA 94305, USA

"Data obtained herein suggest that EPI-743 may represent a new drug for the treatment of inherited mitochondrial respiratory chain disorders"

KEYWORDS: Mitochondrial disease; α-tocotrienol quinone; Leigh syndrome; polymerase γ deficiency; MELAS; mitochondrial DNA deletion syndrome, Friedreich ataxia,