Clinical Experience with Deferiprone Treatment for Friedreich Ataxia

Sandra Elincx-Benizri, Amir Glik, Drorit Merkel, Michael Arad, Dov Freimark, Evgenia Kozlova, Ioav Cabantchik, Sharon Hassin-Baer*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Friedreich ataxia is an inherited disorder characterized by degeneration of the peripheral and central nervous system and hypertrophic cardiomyopathy. Homozygous mutations in the frataxine (FXN) gene reduce expression of frataxin and cause accumulation of iron in the mitochondria. Deferiprone, an oral iron chelator, has been shown effective in cell and animal models of Friedreich ataxia. The results of a 6-month randomized, double blind placebo-controlled study suggested that deferiprone 20 mg/kg/day may reduce disease progression. The authors present their experience of 5 Friedreich ataxia patients treated with deferiprone (20 mg/kg/day), in addition to idebenone treatment, followed over a period of 10-24 months, under off-label authorization. The patients were monitored for laboratory parameters, cardiac assessment, neurological evaluations, and quality of life. The authors conclude that combined therapy of a low dose of deferiprone with idebenone is relatively safe, might improve neurological function, and seems to improve heart hypertrophy, warranting further studies.

Original languageEnglish
Pages (from-to)1036-1040
Number of pages5
JournalJournal of Child Neurology
Volume31
Issue number8
DOIs
StatePublished - 1 Jul 2016

Keywords

  • Friedreich ataxia
  • cardiomyopathy
  • deferiprone
  • idebenone
  • iron chelation

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