Effect of EPI-743 on the clinical course of the mitochondrial disease leber hereditary optic neuropathy

Archives of Neurology

Volumn 69, Issue 3, 2012, Pages 331-338

  Sadun, Alfredo A ^a   Chicani, Carlos Filipe ^a,b   Ross Cisneros, Fred N ^a   Barboni, Piero ^c   Thoolen, Martin ^d   Shrader, William D ^d   Kubis, Kenneth ^f   Carelli, Valerio ^c   Miller, Guy ^d,e  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d BioElectron Technology Corporation   (United States)

^e STANFORD UNIVERSITY   (United States)

^f NAVAL MEDICAL CENTER SAN DIEGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGENTS ACTING ON THE EYE; EPI 743; UNCLASSIFIED DRUG;

ABSENCE OF SIDE EFFECTS; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COLOR VISION; CONTROLLED STUDY; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG EFFICACY; DRUG SAFETY; FEMALE; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; OPEN STUDY; OPTICAL COHERENCE TOMOGRAPHY; OUTCOME ASSESSMENT; PERIMETRY; PRIORITY JOURNAL; PROSPECTIVE STUDY; RETINA NERVE CELL; SCHOOL CHILD; TREATMENT OUTCOME; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADOLESCENT; BLINDNESS; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COLOR VISION; DRUG APPROVAL; EMERGENCY MEDICAL SERVICES; EYE; FEMALE; HUMANS; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; OPTIC ATROPHY, HEREDITARY, LEBER; RETINA; TANDEM MASS SPECTROMETRY; TOMOGRAPHY, OPTICAL COHERENCE; UBIQUINONE; UNITED STATES; UNITED STATES FOOD AND DRUG ADMINISTRATION; VISUAL ACUITY; VISUAL FIELD TESTS; YOUNG ADULT;

EID: 84858599179     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.2972     Document Type: Article

References (26)

1. Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res. 2004;23(1):53-89. (Pubitemid 38177172)
2. Rosenfeld AE, Sadun AA. Treatments for Leber's hereditary optic neuropathy. Drugs Future. 2010;35(2):129-133.
3. Puomila A, Hämäläinen P, Kivioja S, et al. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. Eur J Hum Genet. 2007;15(10):1079- 1089.
4. Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. J Med Genet. 2009;46(3):145-158.
5. Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 1991;111(6):750-762.
6. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med. 2003;348(26):2656-2668. (Pubitemid 36741594)
7. Man PYW, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet. 2002;39(3):162-169. (Pubitemid 34252551)
8. Battisti C, Formichi P, Cardaioli E, et al. Cell response to oxidative stress induced apoptosis in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 2004;75(12):1731-1736. (Pubitemid 39611475)
9. Klopstock T, Yu-Wai-Man P, Dimitriadis K, et al. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain. 2011; 134(Pt 9):2677-2686.
10. Cortelli P, Montagna P, Pierangeli G, et al. Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study. J Neurol Sci. 1997;148(1):25-31. (Pubitemid 27149521)
11. Carelli V, La Morgia C, Valentino ML, et al. Idebenone treatment in Leber's hereditary optic neuropathy. Brain. 2011;134(Pt 9):e188.
12. Huang CC, Kuo HC, Chu CC, Kao LY. Rapid visual recovery after coenzyme q10 treatment of Leber hereditary optic neuropathy. J Neuroophthalmol. 2002; 22(1):66.
13. Mashima Y, Kigasawa K, Wakakura M, Oguchi Y. Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? J Neuroophthalmol. 2000;20(3):166-170.
14. Finsterer J. Treatment of mitochondrial disorders. Eur J Paediatr Neurol. 2010; 14(1):29-44.
15. Barboni P, Carbonelli M, Savini G, et al. Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography. Ophthalmology. 2010;117(3):623-627.
16. US Food and Drug Administration. Guidance for Industry: Bioanalytical Method Validation. Rockville, MD: US Department of Health and Human Services, Food and Drug Administration, Center for Drug Evaluation and Research; 2001.
17. Shrader WD, Amagata A, Barnes A, et al. α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging. Bioorg Med Chem Lett. 2011;21(12):3693-3698.
18. Floreani M, Napoli E, Martinuzzi A, et al. Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy. FEBS J. 2005;272(5):1124-1135. (Pubitemid 40314932)
19. Ghelli A, Porcelli AM, Zanna C, Martinuzzi A, Carelli V, Rugolo M. Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids. Invest Ophthalmol Vis Sci. 2008;49(2):671-676.
20. Schapira AHV. Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia. Biochim Biophys Acta. 1999;1410(2):159-170. (Pubitemid 29078602)
21. Hirai K, Aliev G, Nunomura A, et al. Mitochondrial abnormalities in Alzheimer's disease. J Neurosci. 2001;21(9):3017-3023. (Pubitemid 32323483)
22. Abou-Sleiman PM, Muqit MMK, Wood NW. Expanding insights of mitochondrial dysfunction in Parkinson's disease. Nat Rev Neurosci. 2006;7(3):207-219. (Pubitemid 43292466)
23. Beal MF. Mitochondria take center stage in aging and neurodegeneration. Ann Neurol. 2005;58(4):495-505. (Pubitemid 41377212)
24. Yamada K, Mashima Y, Kigasawa K, Miyashita K, Wakakura M, Oguchi Y. High incidence of visual recovery among four Japanese patients with Leber's hereditary optic neuropathy with the 14484 mutation. J Neuroophthalmol. 1997;17 (2):103-107. (Pubitemid 27232894)
25. Spruijt L, Kolbach DN, de Coo RF, et al. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol. 2006;141 (4):676-682.
26. Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain. 1995;118(pt 2):319-337.