Pharmacological treatments for Friedreich ataxia

Cochrane Database of Systematic Reviews

Volumn 2016, Issue 8, 2016, Pages

  Kearney, Mary ^a   Orrell, Richard W ^b   Fahey, Michael ^c   Brassington, Ruth ^d   Pandolfo, Massimo ^e  

^a IRISH COLLEGE OF GENERAL PRACTITIONERS   (Ireland)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c MONASH UNIVERSITY   (Australia)

^d NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^e ERASME HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIOXIDANT; DRUG; HISTONE DEACETYLASE INHIBITOR; PLACEBO; VITAMIN; ALPHA TOCOPHEROL; IDEBENONE; UBIDECARENONE; UBIQUINONE;

ADVERSE OUTCOME; CINAHL; CLINICAL TRIAL (TOPIC); COCHRANE LIBRARY; DATA ANALYSIS; DATA SYNTHESIS; DRUG THERAPY; ECHOCARDIOGRAPHY; EMBASE; FRIEDREICH ATAXIA; HEART EJECTION FRACTION; HEART LEFT VENTRICLE MASS; HUMAN; INFORMATION PROCESSING; MEDLINE; MULTICENTER STUDY (TOPIC); NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PRIORITY JOURNAL; QUALITY OF LIFE; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; RISK ASSESSMENT; SURVIVAL; SYSTEMATIC REVIEW; SYSTEMATIC REVIEW (TOPIC); ANALOGS AND DERIVATIVES; DIAGNOSTIC IMAGING; DRUG EFFECTS; ECHOGRAPHY; HEART; HYPERTROPHY, LEFT VENTRICULAR; META ANALYSIS; RARE DISEASES;

ANTIOXIDANTS; FRIEDREICH ATAXIA; HEART; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; RANDOMIZED CONTROLLED TRIALS AS TOPIC; RARE DISEASES; UBIQUINONE; ULTRASONOGRAPHY; VITAMIN E;

EID: 84984646254     PISSN: 14651858     EISSN: None     Source Type: Journal    
DOI: 10.1002/14651858.CD007791.pub4     Document Type: Review

References (56)

1. 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. European Journal of Neurology 2008;15(12):1371-9. [PUBMED: 19049556]
2. 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):1676-9. [PUBMED: 12771264]
3. NCT00811681 Effect of pioglitazone administered to patients with Friedreich's ataxia: proof of concept (ACTFRIE). clinicaltrials.gov/ct2/show/NCT00811681 (accessed 24 February 2015).
4. NCT00905268 A study of efficacy, safety and tolerability of idebenone in the treatment of Friedreich's ataxia (FRDA) patients (MICONOS). clinicaltrials.gov/ct2/show/NCT00905268 (accessed 8 January 2015).
5. Santhera Pharmaceuticals. Santhera's MICONOS Trial with Catena/Sovrima in Friedreich's Ataxia misses Primary Endpoint. http://www.santhera.com/index.php?docid=212&vid=&lang=&newsdate=201005&newsid=1417424&newslang=en May 2010 (accessed May 2015).
6. Weidemann F, Rummey C, Bijnens B, Störk S, Jasaitye R, Dhooge J, et al. The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms. Circulation 2012;125(13):1626-34. [PUBMED: 22379112]
7. Di Prospero N, Baker A, Jeffries N, Fischbeck K. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurology 2007;6(10):878-86.
8. Lagedrost SJ, Sutton MS, Cohen MS, Satou GM, Kaufman BD, Perlman SL, et al. Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA). American Heart Journal 2011;161(3):639-45.
9. Lynch DR, Perlman S, Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia. Archives of Neurology 2010;67(8):941-7.
10. Mariotti C, Fancellu R, Caldarazzo S, Solari A, Nanetti L, Tomasello C, et al. Erythropoietin in patients with Friedreich's ataxia: results of a randomized, double-blind, placebo controlled, dose-finding clinical trial. European Journal of Neurology 2010;17(s3):598.
11. Pandolfo M, Arpa J, Delatycki MB, Le Quan Sang KH, Mariotti C, Munnich A, et al. Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial. Annuals of Neurology 2014;76(4):509-21.
12. Schöls L, Zange J, Abele M, Schillings M, Skipka G, Kuntz-Helner S, et al. L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial. Journal of Neural Transmission 2005;112(6):789-96.
13. Arpa J, Sanz-Gallego I, Rodriguez-de-Rivera FJ, Dominguez-Melcón FJ, Prefasi D, Oliva-Navarro J, et al. Triple therapy with deferiprone, idebenone and riboflavin in Friedriech's ataxia - open-label trial. Acta Neurologica Scandinavica 2014;129(1):32-40.
14. Artuch R, Aracil A, Mas A, Colomé C, Rissech M, Monrós E, et al. Friedreich's ataxia: idebenone treatment in early stage patients. Neuropediatrics 2002;33(4):190-3.
15. Boddaert N, Le Quan Sang KH, Rötig A, Leroy-Willig A, Gallet S, Brunnelle F, et al. Selective iron chelation in Friedreich ataxia: biological and clinical implications. Blood 2007;110(1):401-8.
16. Boesch N, Strum B, Hering S, Golderberg H, Poewe W, Scheiber-Mojdehkar B. Friedreich's ataxia; clinical pilot trial with recombinant human erythropoietin. Annuals of Neurology 2007;62(5):521-4.
17. Boesch S, Nachbauer WW, Mariotti C, Filla A, Saccà F, Klockgether T, et al. Safety and tolerability of carbamylated erythropoetin in patients with Friedreich's ataxia. Movement Disorders 2014;29(7):935-9.
18. Buyse G, Mertens L, Di Salvo G, Matthijs I, Weidemann F, Eyskens B, et al. Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology 2003 May 27;60(10):1569-70.
19. Bürk K, Mälzig U, Wolf S, Heck S, Dimitriadis K, Schmitz-Hübsch T, at al. Comparison of three clinical rating scales in Friedreich Ataxia (FRDA). Movement Disorders 2009;24(12):1779-84.
20. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al. Friedreich's Ataxia: Autosomal Recessive Disease caused by an Intronic GAA Triplet Repeat Expansion. Science 1996;271(5254):1423-7.
21. Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Human Molecular Genetics 1997;6(11):1771-80.
22. Clinical Trials.gov. Friedreich ataxia. clinicaltrials.gov/ct2/results?term=friedreich+ataxia&pg=1 May 2015.
23. Cnop M, Igoillo-Esteve M, Rai M, Begu A, Serroukh Y, Depondt C, et al. Central role and mechanism of ß-cell dysfunction and death in Freidreich ataxia-associated diabetes. Annals of Neurology 2012;72(6):971-82.
24. Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia. New England Journal of Medicine 1996;335(16):1169-75.
25. European Medicines Agency. Sovrima: EPAR - Public assessment report. EMEA/387246/2009. ema.europa.eu 2008 (accessed 10 February 2012).
26. Emond M, Lepage G, Vanesse M, Pandolfo M. Increased levels of plasma malondialdehyde in Friedreich ataxia. Neurology 2000;55(11):1752-3.
27. Fahey MC, Corben L, Collins V, Churchyard AJ, Deltatycki MB. How is disease progress in Friedreich's ataxia best measured? A study of four rating scales. Jounrnal of Neurology, Neurosurgery and Psychiatry 2006;78(4):205-11.
28. Grommes C, Karlo JC, Caprariello A, Blankenship D, Dechant A, Landreth GE. The PPARy agonist pioglitazone crossed the blood brain barrier and reduces tumor growth in a human xenograft model. Cancer Chemotherapy Pharmacology 2013;4:929-36.
29. Grothues F, Smith GC, Moon JC, Bellenger NG, Collins P, Klein HU, et al. Comparison of interstudy reproducibility of cardiovascular magnetic resonance with two-dimensional echocardiography in normal subjects and in patients with heart failure or left ventricular hypertrophy. American Journal Cardiology 2002;90(1):29-34.
30. Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rotig A, et al. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart 2002;87(4):346-9.
31. PrCATENA. hc-sc.gc.ca/dhp-mps/prodpharma/sbd-smd/drug-med/sbd_smd_2009_catena_117672-eng.php (accessed 25 May 2016).
32. Herman D, Jenssen K, Burnett R, Soragni E, Perlman SL, Gottesfeld JM. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nature Chemical Biology 2006;2(10):551-8.
33. Higgins JPT, Green S (editors). Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 [updated March 2011]. The Cochrane Collaboration, 2011. Available from www.cochrane-handbook.org.
34. Kakhlon O, Manning H, Breuer W, Melamed-Book N, Lu C, Cortopassi G, et al. Cell function impaired by frataxin deficiency are restored by drug-mediated iron chelation. Blood 2008;112(13):5219-27.
35. Kemp K, Mallam E, Hares K, Witherick J, Scolding N, Wilkins A. Mesenchymal Stem Cells Restore Frataxin Expression and Increase Hydrogen Peroxide Scavenging Enzymes in Friedreich Ataxia Fibroblasts. PLoS ONE (plosone.org) 2011; Vol. 6, issue 10:e26098. [DOI: 10.1371/journal.pone.0026098]
36. Libri V, Yandim C, Athanasopaulos A, Layse N, Natisvili T, Pui Pik L, et al. Epigentic and neurological effects and safety of high-doe nicotinamide in patients with Friedreich's ataxia: an exploratory, open label, dose-escalation study. The Lancet 2014;384(9942):504-13.
37. Lodi R, Rajagopalan B, Blamire AM, Cooper JM, Davies CH, Bradley JL, et al. Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study. Cardiovascular Research 2001;52(1):111-9.
38. Lufino M, Silva AM, Németh A, Alegre-Abarrategui J, Russell A, Wade-Martins R. A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds. Human Molecular Genetics 2013;22(25):5173-87.
39. Grogan M. Efection Fraction:What does it measure?. mayoclinic.org/ejection-fraction/expert-answers/faq-20058286 (accessed 20 May 2015).
40. Nachbauer W, Hering S, Seifert M, Steinkeliner H, Sturm B, Scheiber-Mojedhkar B, et al. Effects of erythropoietin on frataxin levels and mitochondrial function in Friedreich ataxia--a-dose-response trial. Cerebellum 2011;10(4):763-9.
41. Pandolfo M. Drug Insight: antioxidant therapy in inherited ataxias. Natural Clinical Practice Neurology 2008;4(2):86-96.
42. Perdomini M, Belbellaa B, Monassier L, Reutenauer L, Messaddeq N, Cartier N, et al. Prevention and reversal of severe mitochondrial cardiomyopathy be gene therapy in a mouse model of Friedreich's ataxia. Nature Medicine 2014; Vol. 20:542-7. [DOI: 10.1038/nm.3510]
43. Pineda M, Arpa J, Montero R, Aracil A, Domínguez F, Galván M. Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. European Journal of Paediatric Neurology 2008;12(6):470-5.
44. Ribai P, Pousset F, Tanguy M-L, Rivaud-Pechoux S, Le Ber I, Gasparini F, et al. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Archives of Neurology 2007;64(4):558-64.
45. Robinson R. HDAC inhibition appears safe in early trial on Friedreich's ataxia. Neurology Today 2014;14(11):46-7. [DOI: 10.1097/01.NT.0000451003.10471.a7]
46. Rustin P, von Kliest-Retzow JC, Chantrel-Groussard K, Sidi D, Munnich A, Rötig A. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 1999;354(9177):477-9.
47. Saccà F, Piro R, DeMichele G, Acquaviva F, Antenora A, Carlomagna G, et al. Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. Movement Disorder Society 2010;26(4):739-42.
48. Santhera Pharmaceuticals. Santhera's MICONOS Trial with Catena®/Sovrima® in Friedreich's Ataxia Misses Primary Endpoint [press release]. lacaf.org/santhera-trial-with-catena-in-friedreich-ataxia-misses-primary-endpoint/ May 20 2010 (accessed 8 August 2016).
49. Schulz JB, Dehmar T, Schols L, Mende H, Hardt C, Vorgerd M, et al. Oxidative stress in patients with Friedreich ataxia. Neurology 2000;55(11):1719-21.
50. Soragni E. Miao W, Iudicello M, Jacoby D, DeMercanti S, Clerico M, et al. Epigenetic therapy in Friedreich ataxia. Annuals of Neurology 2014;76(4):489-508.
51. Sterne JAC, Egger M, Moher D (editors). Chapter 10: Addressing reporting biases. In: Higgins JPT, Green S (editors). Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 [updated March 2011]. The Cochrane Collaboration, 2011. Available from www.cochrane-handbook.org.
52. Tomassini B, Arcuri G, Fortuni S, Sandi C, Ezzatizdeh V, Casali C, et al. Interferon gamma upregulates frataxin and corrects the function deficits in a Freidreich ataxia model. Human Molecular Genetics 2012;13:2855-61. [DOI: 10.1093/hmg/dds110]
53. Trouillas P, Takayanagi T, Haller M, Currier RD, Subramony SH, Wessel K, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. Journal of the Neurological Sciences 1997;145(2):205-11.
54. Tsou AY, Paulsen EK, Lagedrost SJ, Perlman SL, Mathews KD, Wilmot GR, et al. Mortality in Friedreich Ataxia. Journal of the Neurological Sciences 2011;307:46-9.
55. Kearney M, Orrell RW, Fahey M, Pandolfo M. Antioxidants and other pharmacological treatments for Friedreich ataxia. Cochrane Database of Systematic Reviews 2009, Issue 4. [DOI: 10.1002/14651858.CD007791.pub2]
56. Kearney M, Orrell RW, Fahey M, Pandolfo M. Antioxidants and other pharmacological treatments for Friedreich ataxia. Cochrane Database of Systematic Reviews 2012, Issue 4. [DOI: 10.1002/14651858.CD007791.pub3]