A review of Friedreich ataxia clinical trial results

Journal of Child Neurology

Volumn 27, Issue 9, 2012, Pages 1217-1222

  Perlman, Susan L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

clinical trials; frataxin; Friedreich ataxia; treatment

Indexed keywords

ALPHA TOCOPHEROL; ALPHA TOCOTRIENOL QUINONE; DEFERIPRONE; GINKGO BILOBA EXTRACT; IDEBENONE; IMMUNOGLOBULIN; IRON CHELATING AGENT; PIOGLITAZONE; RECOMBINANT ERYTHROPOIETIN; RESVERATROL; RILUZOLE; UBIDECARENONE; VARENICLINE;

CONFERENCE PAPER; DRUG EFFICACY; DRUG MEGADOSE; DRUG SAFETY; DRUG SCREENING; DRUG TOLERABILITY; FRIEDREICH ATAXIA; GENETIC COUNSELING; HEART VENTRICLE HYPERTROPHY; HUMAN; IRON CHELATION; LOW DRUG DOSE; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; QUALITY OF LIFE; RANDOMIZED CONTROLLED TRIAL (TOPIC); UNSPECIFIED SIDE EFFECT;

CLINICAL TRIALS AS TOPIC; DATABASES, FACTUAL; FRIEDREICH ATAXIA; HUMANS;

EID: 84865626592     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812453872     Document Type: Conference Paper

References (45)

1. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain. 1981 ; 104 (3). 589-620 (Pubitemid 12202197)
2. Schulz JB, Boesch S, Burk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009 ; 5 (4). 222-234
3. Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. 1996 ; 335 (16). 1169-1175 (Pubitemid 26339770)
4. Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet. 1997 ; 6 (11). 1771-1780 (Pubitemid 27460350)
5. Rotig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet. 1997 ; 17 (2). 215-217
6. Lodi R, Cooper JM, Bradley JL, et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci U S A. 1999 ; 96 (20). 11492-11495 (Pubitemid 29487408)
7. Delatycki MB, Camakaris J, Brooks H, et al. Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia. Ann Neurol. 1999 ; 45 (5). 673-675 (Pubitemid 29217600)
8. Tsou AY, Friedman LS, Wilson RB, Lynch DR. Pharmacotherapy for Friedreich ataxia. CNS Drugs. 2009 ; 23 (3). 213-223
9. Burk K, Malzig U, Wolf S, et al. Comparison of three clinical rating scales in Friedreich ataxia (FRDA). Mov Disord. 2009 ; 24 (12). 1779-1784
10. Klockgether T, Ludtke R, Kramer B, et al. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain. 1998 ; 121 (Pt 4). 589-600 (Pubitemid 28162122)
11. Fahey MC, Corben L, Collins V, Churchyard AJ, Delatycki MB. How is disease progress in Friedreich's ataxia best measured? A study of four rating scales. J Neurol Neurosurg Psychiatry. 2007 ; 78 (4). 411-413 (Pubitemid 46580555)
12. Wilson CL, Fahey MC, Corben LA, et al. Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important?. Eur J Neurol. 2007 ; 14 (9). 1040-1047 (Pubitemid 47300780)
13. Lynch DR, Farmer JM, Tsou AY, et al. Measuring Friedreich ataxia: complementary features of examination and performance measures. Neurology. 2006 ; 66 (11). 1711-1716 (Pubitemid 43964627)
14. Epstein E, Farmer JM, Tsou A, et al. Health related quality of life measures in Friedreich ataxia. J Neurol Sci. 2008 ; 272 (1-2). 123-128
15. Friedman LS, Farmer JM, Perlman S, et al. Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord. 2010 ; 25 (4). 426-432
16. Paulsen EK, Friedman LS, Myers LM, Lynch DR. Health-related quality of life in children with Friedreich ataxia. Pediatr Neurol. 2010 ; 42 (5). 335-337
17. Coppola G, Burnett R, Perlman S, et al. A gene expression phenotype in lymphocytes from Friedreich ataxia patients. Ann Neurol. 2011 ; 70 (5). 790-804
18. Schapira A, Lodi R. Assessment of in vitro and in vivo mitochondrial function in Friedreich's ataxia and Huntington's disease. Methods Mol Biol. 2004 ; 277: 293-307
19. Franca MC, D'Abreu A, Yasuda CL, et al. A combined voxel-based morphometry and 1H-MRS study in patients with Friedreich's ataxia. J Neurol. 2009 ; 256 (7). 1114-1120
20. Boesch S, Sturm B, Hering S, Goldenberg H, Poewe W, Scheiber-Mojdehkar B. Friedreich's ataxia: clinical pilot trial with recombinant human erythropoietin. Ann Neurol. 2007 ; 62 (5). 521-524 (Pubitemid 350308777)
21. Boesch S, Sturm B, Hering S, et al. Neurological effects of recombinant human erythropoietin in Friedreich's ataxia: a clinical pilot trial. Mov Disord. 2008 ; 23 (13). 1940-1944
22. Sacca F, Piro R, De Michele G, et al. Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. Mov Disord. 2011 ; 26 (4). 739-742
23. Nachbauer W, Hering S, Seifert M, et al. Effects of erythropoietin on frataxin levels and mitochondrial function in Friedreich ataxia: a dose-response trial. Cerebellum. 2011 ; 10 (4). 763-769
24. Mariotti C, Fancellu R, Caldarazzo S, et al. Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial. Mov Disord. 2012 ; 27 (3). 446-449
25. Armstrong JS, Khdour O, Hecht SM. Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question. FASEB J. 2010 ; 24 (7). 2152-2163
26. Schmucker S, Puccio H. Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches. Hum Mol Genet. 2010 ; 19 (R1). R103 - R110
27. Cotticelli MG, Rasmussen L, Kushner NL, et al. Primary and secondary drug screening assays for Friedreich ataxia. J Biomol Screen. 2012 ; 17 (3). 303-313
28. Orsucci D, Mancuso M, Ienco EC, LoGerfo A, Siciliano G. Targeting mitochondrial dysfunction and neurodegeneration by means of coenzyme Q10 and its analogues. Curr Med Chem. 2011 ; 18 (26). 4053-4064
29. Sugiyama Y, Fujita T, Matsumoto M, Okamoto K, Imada I. Effects of idebenone (CV-2619) and its metabolites on respiratory activity and lipid peroxidation in brain mitochondria from rats and dogs. J Pharmacobiodyn. 1985 ; 8 (12). 1006-1017 (Pubitemid 16190424)
30. Hart PE, Lodi R, Rajagopalan B, et al. Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up. Arch Neurol. 2005 ; 62 (4). 621-626 (Pubitemid 40489896)
31. Cooper JM, Korlipara LV, Hart PE, Bradley JL, Schapira AH. Coenzyme Q10 and vitamin E deficiency in Friedreich's ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy. Eur J Neurol. 2008 ; 15 (12). 1371-1379
32. Hausse AO, Aggoun Y, Bonnet D, et al. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart. 2002 ; 87 (4). 346-349 (Pubitemid 34270947)
33. Mariotti C, Solari A, Torta D, Marano L, Fiorentini C, Di Donato S. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology. 2003 ; 60 (10). 1676-1679 (Pubitemid 36618100)
34. Buyse G, Mertens L, Di Salvo G, et al. Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology. 2003 ; 60 (10). 1679-1681 (Pubitemid 36618101)
35. Pineda M, Arpa J, Montero R, et al. Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur J Paediatr Neurol. 2008 ; 12 (6). 470-475
36. Di Prospero NA, Sumner CJ, Penzak SR, Ravina B, Fischbeck KH, Taylor JP. Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. Arch Neurol. 2007 ; 64 (6). 803-808 (Pubitemid 46919834)
37. 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 (10). 878-886 (Pubitemid 47404985)
38. Lynch DR, Perlman SL, Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia. Arch Neurol. 2010 ; 67 (8). 941-947
39. Lagedrost SJ, Sutton MS, Cohen MS, et al. Idebenone in Friedreich ataxia cardiomyopathy: results from a 6-month phase III study (IONIA). Am Heart J. 2011 ; 161 (3). 639-645
40. 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 (2). 284-291
41. Myers L, Farmer JM, Wilson RB, et al. Antioxidant use in Friedreich ataxia. J Neurol Sci. 2008 ; 267 (1-2). 174-176
42. Artuch R, Aracil A, Mas A, et al. Friedreich's ataxia: idebenone treatment in early stage patients. Neuropediatrics. 2002 ; 33 (4). 190-193
43. Drinkard BE, Keyser RE, Paul SM, et al. Exercise capacity and idebenone intervention in children and adolescents with Friedreich ataxia. Arch Phys Med Rehabil. 2010 ; 91 (7). 1044-1050
44. Velasco-Sanchez D, Aracil A, Montero R, et al. Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia. Cerebellum. 2011 ; 10 (1). 1-8
45. Schols L, Zange J, Abele M, et al. L-carnitine and creatine in Friedreich's ataxia: a randomized, placebo-controlled crossover trial. J Neural Transm. 2005 ; 112 (6). 789-796 (Pubitemid 40655570)