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L ong‐term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia
Author(s) -
Saccà Francesco,
Puorro Giorgia,
Marsili Angela,
Antenora Antonella,
Pane Chiara,
Casali Carlo,
Marcotulli Christian,
Defazio Giovanni,
Liuzzi Daniele,
Tatillo Chiara,
Cambriglia Donata Maria,
Schiano di Cola Giuseppe,
Giuliani Luigi,
Guardasole Vincenzo,
Salzano Andrea,
Ruvolo Antonio,
De Rosa Anna,
Cittadini Antonio,
De Michele Giuseppe,
Filla Alessandro
Publication year - 2016
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.26552
Subject(s) - medicine , erythropoietin , ataxia , epoetin alfa , frataxin , placebo , clinical endpoint , gastroenterology , clinical trial , randomized controlled trial , surgery , pathology , alternative medicine , psychiatry , iron binding proteins , transferrin
Background Friedreich ataxia is an autosomal recessive disease with no available therapy. Clinical trials with erythropoietin in Friedreich ataxia patients have yielded conflicting results, and the long‐term effect of the drug remains unknown. Methods We designed a double‐blind, placebo‐controlled, multicenter trial to test the efficacy of epoetin alfa on 56 patients with Friedreich ataxia. The primary endpoint of the study was the effect of epoetin alfa on peak oxygen uptake (VO 2 max) at the cardiopulmonary exercise test. Secondary endpoints were frataxin levels in peripheral blood mononuclear cells, improvement in echocardiography findings, vascular reactivity, neurological progression, upper limb dexterity, safety, and quality of life. Epoetin alfa or placebo (1:1 ratio) was administered subcutaneously at a dose of 1200 IU/Kg of body weight every 12 weeks for 48 weeks. Results A total of 56 patients were randomized; 27 completed the study in the active treatment group, and 26 completed the study in the placebo group[KG1]. VO 2 max was not modified after treatment (0.01 [−0.04 to 0.05]; P = .749), as well as most of the secondary endpoint measures, including frataxin. The 9‐hole peg test showed a significant amelioration in the treatment group (−17.24 sec. [−31.5 to −3.0]; P = .018). The treatment was safe and well tolerated. Conclusions Although results are not in favor of an effect of epoetin alfa in Friedreich ataxia, this is the largest trial testing its effect. It is still possible that epoetin alfa may show some symptomatic effect on upper‐limb performance. This study provides class I evidence that erythropoietin does not ameliorate VO 2 max in patients with Friedreich ataxia. © 2016 International Parkinson and Movement Disorder Society