title: Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial.
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.
authors.affiliation: SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy. mariotti.c@istituto-besta.it
authors.forename: Caterina
authors.initials: C
authors.lastname: Mariotti
authors.forename: Roberto
authors.initials: R
authors.lastname: Fancellu
authors.forename: Serena
authors.initials: S
authors.lastname: Caldarazzo
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Nanetti
authors.forename: Daniela
authors.initials: D
authors.lastname: Di Bella
authors.forename: Massimo
authors.initials: M
authors.lastname: Plumari
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Lauria
authors.forename: Maria D
authors.initials: MD
authors.lastname: Cappellini
authors.forename: Lorena
authors.initials: L
authors.lastname: Duca
authors.forename: Alessandra
authors.initials: A
authors.lastname: Solari
authors.forename: Franco
authors.initials: F
authors.lastname: Taroni
mesh_terms: D000328:Adult; D000975:Antioxidants / Q000627:therapeutic use; D004305:Dose-Response Relationship, Drug; D004311:Double-Blind Method; D004921:Erythropoietin / Q000627:therapeutic use*; D005260:Female; D005621:Friedreich Ataxia / Q000188:drug therapy* / Q000378:metabolism*; D006801:Humans; D033862:Iron-Binding Proteins / Q000378:metabolism*; D008297:Male; D011994:Recombinant Proteins / Q000627:therapeutic use; D018709:Statistics, Nonparametric; D013997:Time Factors; D016896:Treatment Outcome; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000627:therapeutic use; D055815:Young Adult; D000096923:Frataxin
chemical_list: D000975:Antioxidants; D004921:Erythropoietin; D033862:Iron-Binding Proteins; D011994:Recombinant Proteins; D014451:Ubiquinone; D000096923:Frataxin; C036619:idebenone