title: Clinical Experience With Deferiprone Treatment for Friedreich Ataxia.
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.
authors.affiliation: Movement Disorders Institute, Department of Neurology, Sagol Neuroscience Center, Chaim Sheba Medical Center, Tel-Hashomer, Ramat-Gan, Israel.
authors.forename: Sandra
authors.initials: S
authors.lastname: Elincx-Benizri
authors.affiliation: Cognitive Neurology Clinic and Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.
authors.forename: Amir
authors.initials: A
authors.lastname: Glik
authors.affiliation: Division of Hematology, Chaim Sheba Medical Center, Ramat-Gan, Israel Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Drorit
authors.initials: D
authors.lastname: Merkel
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel Leviev Heart Center, Chaim Sheba Medical Center, Tel-Hashomer, Ramat-Gan, Israel.
authors.forename: Michael
authors.initials: M
authors.lastname: Arad
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel Leviev Heart Center, Chaim Sheba Medical Center, Tel-Hashomer, Ramat-Gan, Israel.
authors.forename: Dov
authors.initials: D
authors.lastname: Freimark
authors.affiliation: Movement Disorders Institute, Department of Neurology, Sagol Neuroscience Center, Chaim Sheba Medical Center, Tel-Hashomer, Ramat-Gan, Israel.
authors.forename: Evgenia
authors.initials: E
authors.lastname: Kozlova
authors.affiliation: Department of Biological Chemistry, Alexander Silberman Institute of Life Sciences, Hebrew University of Jerusalem Givat Ram, Jerusalem, Israel.
authors.forename: Ioav
authors.initials: I
authors.lastname: Cabantchik
authors.affiliation: Movement Disorders Institute, Department of Neurology, Sagol Neuroscience Center, Chaim Sheba Medical Center, Tel-Hashomer, Ramat-Gan, Israel Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel shassin@post.tau.ac.il.
authors.forename: Sharon
authors.initials: S
authors.lastname: Hassin-Baer
mesh_terms: D000293:Adolescent; D000328:Adult; D000975:Antioxidants / Q000627:therapeutic use; D000077543:Deferiprone; D018450:Disease Progression; D004311:Double-Blind Method; D004359:Drug Therapy, Combination; D005260:Female; D005500:Follow-Up Studies; D005621:Friedreich Ataxia / Q000188:drug therapy* / Q000503:physiopathology; D006801:Humans; D007502:Iron Chelating Agents / Q000627:therapeutic use*; D008297:Male; D011728:Pyridones / Q000627:therapeutic use*; D011788:Quality of Life; D016896:Treatment Outcome; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000627:therapeutic use; D055815:Young Adult
chemical_list: D000975:Antioxidants; D007502:Iron Chelating Agents; D011728:Pyridones; D014451:Ubiquinone; D000077543:Deferiprone; C036619:idebenone
keywords: Friedreich ataxia; cardiomyopathy; deferiprone; idebenone; iron chelation