Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial

Movement Disorders

Volumn 27, Issue 3, 2012, Pages 446-449

  Mariotti, Caterina ^a   Fancellu, Roberto ^a   Caldarazzo, Serena ^a   Nanetti, Lorenzo ^a   Di Bella, Daniela ^a   Plumari, Massimo ^a   Lauria, Giuseppe ^a   Cappellini, Maria D ^b   Duca, Lorena ^b   Solari, Alessandra ^a   Taroni, Franco ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

Erythropoietin; Frataxin; Friedreich ataxia; Idebenone

Indexed keywords

FRATAXIN; IDEBENONE; PLACEBO; RECOMBINANT ERYTHROPOIETIN;

ABSENCE OF SIDE EFFECTS; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DOSE RESPONSE; DOUBLE BLIND PROCEDURE; DRUG EFFICACY; DRUG SAFETY; DRUG TOLERABILITY; ERYTHROCYTE COUNT; FEMALE; FRIEDREICH ATAXIA; HEMOSIDEROSIS; HUMAN; IRON DEFICIENCY ANEMIA; MALE; PHASE 2 CLINICAL TRIAL; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL; SCALE UP; SCORING SYSTEM; SIDE EFFECT; TRANSFERRIN BLOOD LEVEL; TREATMENT OUTCOME;

ADULT; ANTIOXIDANTS; DOSE-RESPONSE RELATIONSHIP, DRUG; DOUBLE-BLIND METHOD; ERYTHROPOIETIN; FEMALE; FRIEDREICH ATAXIA; HUMANS; IRON-BINDING PROTEINS; MALE; RECOMBINANT PROTEINS; STATISTICS, NONPARAMETRIC; TIME FACTORS; TREATMENT OUTCOME; UBIQUINONE; YOUNG ADULT;

EID: 84858292675     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.24066     Document Type: Article

References (17)

1. Schulz JB, Boesch S, Bürk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009; 5: 222-234.
2. Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996; 271: 1423-1427.
3. Cossee M, Schmitt M, Campuzano V, et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A. 1997; 94: 7452-7457.
4. Tan G, Napoli E, Taroni F, Cortopassi G. Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells. Hum Mol Genet. 2003; 12: 1699-1711.
5. Taroni F, DiDonato S. Pathways to motor incoordination: the inherited ataxias. Nature Rev Neurosci. 2004; 5: 641-655.
6. Sturm B, Stupphann D, Kaunal C, et al. Recombinant human erythropoietin: effects on fZrataxin expression in vitro. Eur J Clin Invest. 2005; 35: 711-717.
7. 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: 521-524.
8. Boesch S, Sturm B, Hering S, et al. Neurological effects of recombinant human erythropoietin in Friedreich's ataxia: a clinical pilot study. Mov Disord. 2008; 23: 1940-1944.
9. Lauria G, Campanella A, Filippini G, et al. Erythropoietin in amyotrophic lateral sclerosis: A pilot, randomized, double-blind, placebo-controlled study of safety and tolerability. Amyotroph Lateral Scler. 2009; 10: 410-415.
10. Schmitz-Hübsch T, du Montcel ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006; 66: 1717-1720.
11. Burk K, Malzig U, MD, Wolf S, et al. Comparison of three clinical rating scales in Friedreich ataxia (FRDA). Mov Disord. 2009; 24: 1779-1784.
12. Apolone G, Mosconi P. The Italian health survey: translation, validation and norming. J Clin Epidemiol. 1998; 51: 1025-1036.
13. Brines M, Cerami A. Emerging biological roles for erythropoietin in the nervous system. Nature Rev. 2005; 6: 484-494.
14. Steinkellner H, Scheiber-Mojdehkar B, Goldenberg H, Sturm B. A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels. Anal Chim Acta. 2010; 659: 129-132.
15. 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: 1676-1679.
16. Saccà F, Piro R, De Michele G, et al. Epoietin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. Mov Disord. 2011; 26: 739-742.
17. 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: 763-769.