Neurological effects of recombinant human erythropoietin in Friedreich's ataxia: a clinical pilot trial

Mov Disord. 2008 Oct 15;23(13):1940-4. doi: 10.1002/mds.22294.


In a "proof-of-concept" study, we demonstrated that recombinant human erythropoietin (rhuEPO) increases frataxin levels in Friedreich's ataxia (FRDA) patients. We now report a 6-month open-label clinical pilot study of safety and efficacy of rhuEPO treatment in FRDA. Eight adult FRDA patients received 2.000 IU rhuEPO thrice a week subcutaneously. Clinical outcome measures included Ataxia Rating Scales. Frataxin levels and indicators for oxidative stress were assessed. Hematological parameters were monitored biweekly. Scores in Ataxia Rating Scales such as FARS (P = 0.0063) and SARA (P = 0.0045) improved significantly. Frataxin levels increased (P = 0.017) while indicators of oxidative stress such as urine 8-OHdG (P = 0.012) and peroxide levels decreased (P = 0.028). Increases in hematocrit requiring phlebotomies occurred in 4 of 8 patients. In this explorative open-label clinical pilot study, we found an evidence for clinical improvement together with a persistent increase of frataxin levels and a reduction of oxidative stress parameters in patients with FRDA receiving chronic treatment with rhuEPO. Safety monitoring with regular blood cell counts and parameters of iron metabolism is a potential limitation of this approach.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 8-Hydroxy-2'-Deoxyguanosine
  • Adult
  • Deoxyguanosine / analogs & derivatives
  • Deoxyguanosine / urine
  • Enzyme-Linked Immunosorbent Assay / methods
  • Erythropoietin / therapeutic use*
  • Female
  • Follow-Up Studies
  • Friedreich Ataxia / drug therapy*
  • Friedreich Ataxia / physiopathology*
  • Friedreich Ataxia / urine
  • Humans
  • Iron-Binding Proteins / metabolism
  • Lymphocytes / metabolism
  • Male
  • Middle Aged
  • Pilot Projects
  • Recombinant Proteins
  • Severity of Illness Index
  • Treatment Outcome


  • Iron-Binding Proteins
  • Recombinant Proteins
  • frataxin
  • Erythropoietin
  • 8-Hydroxy-2'-Deoxyguanosine
  • Deoxyguanosine