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Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial
Author(s) -
Mariotti Caterina,
Fancellu Roberto,
Caldarazzo Serena,
Nanetti Lorenzo,
Di Bella Daniela,
Plumari Massimo,
Lauria Giuseppe,
Cappellini Maria D.,
Duca Lorena,
Solari Alessandra,
Taroni Franco
Publication year - 2012
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.24066
Subject(s) - frataxin , ataxia , erythropoietin , placebo , medicine , idebenone , gastroenterology , endocrinology , surgery , pharmacology , iron binding proteins , pathology , transferrin , alternative medicine , psychiatry
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. © 2012 Movement Disorder Society