Funding agencies: This study was supported by the Italian Agency for Pharmaceutics (Agenzia Italiana del Farmaco; AIFA grant FARM6H95MJ; to F.T.).
Article first published online: 4 JAN 2012
Copyright © 2012 Movement Disorder Society
Volume 27, Issue 3, pages 446–449, March 2012
How to Cite
Mariotti, C., Fancellu, R., Caldarazzo, S., Nanetti, L., Di Bella, D., Plumari, M., Lauria, G., Cappellini, M. D., Duca, L., Solari, A. and Taroni, F. (2012), Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial. Mov. Disord., 27: 446–449. doi: 10.1002/mds.24066
Relevant conflicts of interest/financial disclosures: Caterina Mariotti received research support from the E-RARE program (01GM0820, RISCA), and Lundbeck Pharmaceuticals (Trial LUAA24493). Roberto Fancellu received research support from EUROSCA grant (LSHM-CT-2004-503304), and AIFA grant (FARM6H95MJ, to F.T.). Serena Caldarazzo received research support from AIFA grant (FARM6H95MJ, to F.T.). Maria D. Cappellini received financial support from the CCM2010 grant on rare diseases (Italian Ministry of Health) and from Novartis Pharma (clinical trials on ICL670). Alessandra Solari received research support from the Fondazione Italiana Sclerosi Multipla (FISM; grants 2007/R/19; 2009/R/28), board membership fees from Novartis, and speaking honoraria from Sanofi Aventis. Franco Taroni received research support from AIFA (grant FARM6H95MJ) and ApoPharma (Study LA29-0207).
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 12 MAR 2012
- Article first published online: 4 JAN 2012
- Manuscript Accepted: 14 NOV 2011
- Manuscript Revised: 26 OCT 2011
- Manuscript Received: 1 APR 2011
- Friedreich ataxia;
Friedreich ataxia is a rare disease caused by GAA-trinucleotide-repeat expansions in the frataxin gene, leading to marked reduction of qualitatively normal frataxin protein. Recently, human recombinant erythropoietin was reported to increase frataxin levels in patients with Friedreich ataxia.
We performed a 6-month, randomized placebo-controlled, double-blind, dose-response pilot trial to assess the safety and efficacy of erythropoietin in increasing frataxin levels. Sixteen adult patient with Friedreich ataxia were randomly assigned to erythropoietin (n = 11) or matching placebo (n = 5). All patients continued Idebenone treatment (5 mg/kg/day). Treatment consisted of a 6-month scaling-up phase, in which erythropoietin was administered intravenously at the following doses: 20,000 IU every 3 weeks, 40,000 IU every 3 weeks, and 40,000 IU every 2 weeks.
Erythropoietin treatment was safe and well tolerated, but did not result in any significant hematological, clinical, or biochemical effects in Friedreich ataxia patients. © 2012 Movement Disorder Society