메뉴 건너뛰기




Volumn 10, Issue 2, 2013, Pages 307-319

Review of Clinical Trials for Mitochondrial Disorders: 1997-2012

Author keywords

arginine; citrulline; creatine; crossover design; dichloroacetate; EPI 743; exercise; idebenone; Placebo controlled; primary outcomes; lipoate

Indexed keywords

ALPHA TOCOTRIENOL QUINONE; ARGININE; CITRULLINE; CREATINE; DICHLOROACETIC ACID; IDEBENONE; LIQNOL; THIOCTIC ACID; UBIDECARENONE; UBIQUINONE; UNCLASSIFIED DRUG;

EID: 84876167339     PISSN: 19337213     EISSN: 18787479     Source Type: Journal    
DOI: 10.1007/s13311-013-0176-7     Document Type: Review
Times cited : (83)

References (54)
  • 1
    • 53049094677 scopus 로고    scopus 로고
    • How can we treat mitochondrial encephalomyopathies? Approaches to therapy
    • Horvath R, Gorman G, Chinnery PF. How can we treat mitochondrial encephalomyopathies? Approaches to therapy. Neurotherapeutics 2008; 5: 558-568.
    • (2008) Neurotherapeutics , vol.5 , pp. 558-568
    • Horvath, R.1    Gorman, G.2    Chinnery, P.F.3
  • 2
    • 72149128219 scopus 로고    scopus 로고
    • A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases
    • DiMauro S, Rustin P. A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases. Biochim Biophys Acta 2009; 1792: 1159-1167.
    • (2009) Biochim Biophys Acta , vol.1792 , pp. 1159-1167
    • DiMauro, S.1    Rustin, P.2
  • 3
    • 76349123010 scopus 로고    scopus 로고
    • Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade
    • Kerr DS. Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade. Mol Genet Metab 2010; 99: 246-55.
    • (2010) Mol Genet Metab , vol.99 , pp. 246-255
    • Kerr, D.S.1
  • 4
    • 79961209538 scopus 로고    scopus 로고
    • Why are there no proven therapies for genetic mitochondrial diseases?
    • Stacpoole PW. Why are there no proven therapies for genetic mitochondrial diseases? Mitochondrion 2011; 11: 679-685.
    • (2011) Mitochondrion , vol.11 , pp. 679-685
    • Stacpoole, P.W.1
  • 8
    • 33646830260 scopus 로고    scopus 로고
    • Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children
    • Stacpoole PW, Kerr DS, Barnes C, Bunch ST, Carney PR, Fennell EM, et al. Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics 2006; 117: 1519-531.
    • (2006) Pediatrics , vol.117 , pp. 1519-1531
    • Stacpoole, P.W.1    Kerr, D.S.2    Barnes, C.3    Bunch, S.T.4    Carney, P.R.5    Fennell, E.M.6
  • 9
    • 79955826967 scopus 로고    scopus 로고
    • The dichloroacetate dilemma: environmental hazard versus therapeutic goldmine--both or neither?
    • Stacpoole PW. The dichloroacetate dilemma: environmental hazard versus therapeutic goldmine--both or neither? Environ Health Perspect 2011; 119: 155-158.
    • (2011) Environ Health Perspect , vol.119 , pp. 155-158
    • Stacpoole, P.W.1
  • 10
    • 33646202306 scopus 로고    scopus 로고
    • Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial
    • Kaufmann P, Engelstad K, Wei Y, Jhung S, Sano MC, Shungu DC, et al. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology 2006; 66: 324-330.
    • (2006) Neurology , vol.66 , pp. 324-330
    • Kaufmann, P.1    Engelstad, K.2    Wei, Y.3    Jhung, S.4    Sano, M.C.5    Shungu, D.C.6
  • 13
    • 33745648369 scopus 로고    scopus 로고
    • Endothelial dysfunction in MELAS improved by L-arginine supplementation
    • Koga Y, Akita Y, Junko N, Yatsuga S, Povalko N, Fukiyama R, et al. Endothelial dysfunction in MELAS improved by L-arginine supplementation. Neurology 2006; 66: 1766-1769.
    • (2006) Neurology , vol.66 , pp. 1766-1769
    • Koga, Y.1    Akita, Y.2    Junko, N.3    Yatsuga, S.4    Povalko, N.5    Fukiyama, R.6
  • 16
    • 84887129084 scopus 로고    scopus 로고
    • MELAS and L-arginine therapy - therapeutic timing and long term effects
    • Koga Y, Abe T, Taniwaki T, Nataliya P. MELAS and L-arginine therapy - therapeutic timing and long term effects. Mitochondrion 2012; 12; 551.
    • (2012) Mitochondrion , vol.12 , pp. 551
    • Koga, Y.1    Abe, T.2    Taniwaki, T.3    Nataliya, P.4
  • 17
    • 49949087968 scopus 로고    scopus 로고
    • New indications and controversies in arginine therapy
    • Coman D, Yaplito-Lee J, Boneh A. New indications and controversies in arginine therapy. Clin Nutr 2008; 27: 489-496.
    • (2008) Clin Nutr , vol.27 , pp. 489-496
    • Coman, D.1    Yaplito-Lee, J.2    Boneh, A.3
  • 19
    • 84858700111 scopus 로고    scopus 로고
    • Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation
    • El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, et al. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab 2012; 105: 607-614.
    • (2012) Mol Genet Metab , vol.105 , pp. 607-614
    • El-Hattab, A.W.1    Hsu, J.W.2    Emrick, L.T.3    Wong, L.J.4    Craigen, W.J.5    Jahoor, F.6
  • 20
    • 84867895466 scopus 로고    scopus 로고
    • Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders
    • El-Hattab AW, Emrick LT, Craigen WJ, Scaglia F. Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. Mol Genet Metab 2012; 107: 247-252.
    • (2012) Mol Genet Metab , vol.107 , pp. 247-252
    • El-Hattab, A.W.1    Emrick, L.T.2    Craigen, W.J.3    Scaglia, F.4
  • 22
    • 84859436493 scopus 로고    scopus 로고
    • CoQ10 deficiencies and MNGIE: two treatable mitochondrial disorders
    • Hirano M, Garone C, Quinzii CM. CoQ10 deficiencies and MNGIE: two treatable mitochondrial disorders. Biochim Biophys Acta 2012; 1820: 625-631.
    • (2012) Biochim Biophys Acta , vol.1820 , pp. 625-631
    • Hirano, M.1    Garone, C.2    Quinzii, C.M.3
  • 23
    • 33746048422 scopus 로고    scopus 로고
    • Clinical trials of coenzyme Q10 in neurological disorders
    • Shults CW, Haas R. Clinical trials of coenzyme Q10 in neurological disorders. Biofactors 2005; 25: 117-126.
    • (2005) Biofactors , vol.25 , pp. 117-126
    • Shults, C.W.1    Haas, R.2
  • 24
    • 0021449807 scopus 로고
    • 31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle
    • Eleff S, Kennaway NG, Buist NR, Darley-Usmar VM, Capaldi RA, Bank WJ, et al. 31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle. Proc Natl Acad Sci U S A 1984; 81: 3529-3533.
    • (1984) Proc Natl Acad Sci U S A , vol.81 , pp. 3529-3533
    • Eleff, S.1    Kennaway, N.G.2    Buist, N.R.3    Darley-Usmar, V.M.4    Capaldi, R.A.5    Bank, W.J.6
  • 26
    • 84869083946 scopus 로고    scopus 로고
    • Design and implementation of the first randomized controlled trial of coenzyme Q10 in children with primary mitochondrial diseases
    • Stacpoole PW, deGrauw TJ, Feigenbaum AS, Hoppel C, Kerr DS, McCandless SE, et al. Design and implementation of the first randomized controlled trial of coenzyme Q10 in children with primary mitochondrial diseases. Mitochondrion 2012; 12: 623-629.
    • (2012) Mitochondrion , vol.12 , pp. 623-629
    • Stacpoole, P.W.1    deGrauw, T.J.2    Feigenbaum, A.S.3    Hoppel, C.4    Kerr, D.S.5    McCandless, S.E.6
  • 27
    • 3042717908 scopus 로고    scopus 로고
    • Pilot trial of high dosages of coenzyme Q10 in patients with Parkinson's disease
    • Shults CW, Flint BM, Song D, Fontaine D. Pilot trial of high dosages of coenzyme Q10 in patients with Parkinson's disease. Exp Neurol 2004; 188: 491-494.
    • (2004) Exp Neurol , vol.188 , pp. 491-494
    • Shults, C.W.1    Flint, B.M.2    Song, D.3    Fontaine, D.4
  • 29
    • 33846115045 scopus 로고    scopus 로고
    • A randomized clinical trial of coenzyme Q10 and GPI-1485 in early Parkinson disease
    • NINDS NET-PD Investigators
    • NINDS NET-PD Investigators. A randomized clinical trial of coenzyme Q10 and GPI-1485 in early Parkinson disease. Neurology 2007; 68: 20-28.
    • (2007) Neurology , vol.68 , pp. 20-28
  • 30
    • 34447252358 scopus 로고    scopus 로고
    • Randomized, double-blind, placebo-controlled trial on symptomatic effects of coenzyme Q10 in Parkinson disease
    • Storch A, Jost WH, Vieregge P, Spiegel J, Greulich W, Durner J, et al. Randomized, double-blind, placebo-controlled trial on symptomatic effects of coenzyme Q10 in Parkinson disease. Arch Neurol 2007; 64: 938-944.
    • (2007) Arch Neurol , vol.64 , pp. 938-944
    • Storch, A.1    Jost, W.H.2    Vieregge, P.3    Spiegel, J.4    Greulich, W.5    Durner, J.6
  • 32
    • 34548606803 scopus 로고    scopus 로고
    • Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial
    • Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol 2007; 6: 878-886.
    • (2007) Lancet Neurol , vol.6 , pp. 878-886
    • Di Prospero, N.A.1    Baker, A.2    Jeffries, N.3    Fischbeck, K.H.4
  • 35
    • 62549120780 scopus 로고    scopus 로고
    • Idebenone: an emerging therapy for Friedreich ataxia
    • Meier T, Buyse G. Idebenone: an emerging therapy for Friedreich ataxia. J Neurol 2009; 256(Suppl. 1): 25-30.
    • (2009) J Neurol , vol.256 , Issue.SUPPL. 1 , pp. 25-30
    • Meier, T.1    Buyse, G.2
  • 36
    • 77955450939 scopus 로고    scopus 로고
    • A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia
    • Lynch DR, Perlman SL, Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia. Arch Neurol 2010; 67: 941-947.
    • (2010) Arch Neurol , vol.67 , pp. 941-947
    • Lynch, D.R.1    Perlman, S.L.2    Meier, T.3
  • 37
    • 84856732716 scopus 로고    scopus 로고
    • Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study
    • Meier T, Perlman SL, Rummey C, Coppard NJ, Lynch DR. Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study. J Neurol 2012; 259: 284-291.
    • (2012) J Neurol , vol.259 , pp. 284-291
    • Meier, T.1    Perlman, S.L.2    Rummey, C.3    Coppard, N.J.4    Lynch, D.R.5
  • 39
    • 80052959702 scopus 로고    scopus 로고
    • A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
    • Klopstock T, Yu-Wai-Man P, Dimitriadis K, Rouleau J, Heck S, Bailie M, et al. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain 2011; 134: 2677-2686.
    • (2011) Brain , vol.134 , pp. 2677-2686
    • Klopstock, T.1    Yu-Wai-Man, P.2    Dimitriadis, K.3    Rouleau, J.4    Heck, S.5    Bailie, M.6
  • 42
    • 84869874364 scopus 로고    scopus 로고
    • Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease
    • Blankenberg FG, Kinsman SL, Cohen BH, Goris ML, Spicer KM, Perlman SL, et al. Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease. Mol Genet Metab 2012; 107: 690-699.
    • (2012) Mol Genet Metab , vol.107 , pp. 690-699
    • Blankenberg, F.G.1    Kinsman, S.L.2    Cohen, B.H.3    Goris, M.L.4    Spicer, K.M.5    Perlman, S.L.6
  • 43
    • 84867897915 scopus 로고    scopus 로고
    • EPI-743 reverses the progression of the pediatric mitochondrial disease-Genetically defined Leigh Syndrome
    • Martinelli D, Catteruccia M, Piemonte F, Pastore A, Tozzi G, Dionisi-Vici C, et al. EPI-743 reverses the progression of the pediatric mitochondrial disease-Genetically defined Leigh Syndrome. Mol Genet Metab 2012; 107: 383-388.
    • (2012) Mol Genet Metab , vol.107 , pp. 383-388
    • Martinelli, D.1    Catteruccia, M.2    Piemonte, F.3    Pastore, A.4    Tozzi, G.5    Dionisi-Vici, C.6
  • 44
    • 52049087584 scopus 로고    scopus 로고
    • Leigh and Leigh-like syndrome in children and adults
    • Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol 2008; 39: 223-235.
    • (2008) Pediatr Neurol , vol.39 , pp. 223-235
    • Finsterer, J.1
  • 45
    • 0030731246 scopus 로고    scopus 로고
    • A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies
    • Tarnopolsky MA, Roy BD, MacDonald JR. A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Muscle Nerve 1997; 20: 1502-1509.
    • (1997) Muscle Nerve , vol.20 , pp. 1502-1509
    • Tarnopolsky, M.A.1    Roy, B.D.2    MacDonald, J.R.3
  • 46
    • 0034642154 scopus 로고    scopus 로고
    • A placebo-controlled crossover trial of creatine in mitochondrial diseases
    • Klopstock T, Querner V, Schmidt F, Gekeler F, Walter M, Hartard M, et al. A placebo-controlled crossover trial of creatine in mitochondrial diseases. Neurology 2000; 55: 1748-1751.
    • (2000) Neurology , vol.55 , pp. 1748-1751
    • Klopstock, T.1    Querner, V.2    Schmidt, F.3    Gekeler, F.4    Walter, M.5    Hartard, M.6
  • 47
    • 20144387513 scopus 로고    scopus 로고
    • Creatine has no beneficial effect on skeletal muscle energy metabolism in patients with single mitochondrial DNA deletions: a placebo-controlled, double-blind 31P-MRS crossover study
    • Kornblum C, Schroder R, Muller K, Vorgerd M, Eggers J, Bogdanow M, et al. Creatine has no beneficial effect on skeletal muscle energy metabolism in patients with single mitochondrial DNA deletions: a placebo-controlled, double-blind 31P-MRS crossover study. Eur J Neurol 2005; 12: 300-309.
    • (2005) Eur J Neurol , vol.12 , pp. 300-309
    • Kornblum, C.1    Schroder, R.2    Muller, K.3    Vorgerd, M.4    Eggers, J.5    Bogdanow, M.6
  • 49
    • 0034905495 scopus 로고    scopus 로고
    • Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects
    • Taivassalo T, Shoubridge EA, Chen J, Kennaway NG, DiMauro S, Arnold DL, et al. Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects. Ann Neurol 2001; 50: 133-141.
    • (2001) Ann Neurol , vol.50 , pp. 133-141
    • Taivassalo, T.1    Shoubridge, E.A.2    Chen, J.3    Kennaway, N.G.4    DiMauro, S.5    Arnold, D.L.6
  • 50
    • 0037314931 scopus 로고    scopus 로고
    • The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients
    • Taivassalo T, Jensen TD, Kennaway N, DiMauro S, Vissing J, Haller RG. The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients. Brain 2003; 126: 413-423.
    • (2003) Brain , vol.126 , pp. 413-423
    • Taivassalo, T.1    Jensen, T.D.2    Kennaway, N.3    DiMauro, S.4    Vissing, J.5    Haller, R.G.6
  • 51
    • 33845285545 scopus 로고    scopus 로고
    • Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions
    • Taivassalo T, Gardner JL, Taylor RW, Schaefer AM, Newman J, Barron MJ, et al. Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Brain 2006; 129: 3391-3401.
    • (2006) Brain , vol.129 , pp. 3391-3401
    • Taivassalo, T.1    Gardner, J.L.2    Taylor, R.W.3    Schaefer, A.M.4    Newman, J.5    Barron, M.J.6
  • 53
    • 84867900559 scopus 로고    scopus 로고
    • Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype
    • DeBrosse S, Okajima K, Zhang S, Nakouzi G, Schmotzer C, Lusk-Kopp M, et al. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype. Mol Genet Metab 2012; 107: 394-402.
    • (2012) Mol Genet Metab , vol.107 , pp. 394-402
    • DeBrosse, S.1    Okajima, K.2    Zhang, S.3    Nakouzi, G.4    Schmotzer, C.5    Lusk-Kopp, M.6
  • 54
    • 55749115090 scopus 로고    scopus 로고
    • Resistance training in patients with single, large-scale deletions of mitochondrial DNA
    • Murphy JL, Blakely EL, Schaefer AM, He L, Wyrick P, Haller RG, et al. Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain 2008; 131: 2832-2840.
    • (2008) Brain , vol.131 , pp. 2832-2840
    • Murphy, J.L.1    Blakely, E.L.2    Schaefer, A.M.3    He, L.4    Wyrick, P.5    Haller, R.G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.