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

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

Research output: Contribution to journalArticle

Abstract

Background: 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. Methods: 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. Results: Erythropoietin treatment was safe and well tolerated, but did not result in any significant hematological, clinical, or biochemical effects in Friedreich ataxia patients.

Original languageEnglish
Pages (from-to)446-449
Number of pages4
JournalMovement Disorders
Volume27
Issue number3
DOIs
Publication statusPublished - Mar 2012

Keywords

  • Erythropoietin
  • Frataxin
  • Friedreich ataxia
  • Idebenone

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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