Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia

• Status: Completed
• Trial end date: 2009-06-01
• Target enrollment: 0
• Participant gender: All

Summary

Friedreich's ataxia is a rare genetic disorder characterized by severe neurological disability and cardiomyopathy. Friedreich's ataxia is the consequence of frataxin deficiency. Although several drugs have been proposed, there is no available treatment. It was recently demonstrated that erythropoietin can increase the intracellular levels of frataxin in an in-vitro model.

The present project is aimed at testing the possible therapeutic approach of erythropoietin, which is an already available and commercialized drug. The investigators will perform both in-vitro and in-vivo tests, in order to asses its efficacy and safety in patients. The results will be useful to plan further clinical trials.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Federico II University
• Treatments: Epoetin Alfa

Criteria

Inclusion Criteria:

• Molecular diagnosis of FA based on a homozygous GAA expansion within the FRDA with a triplet repeat sequence in the pathological range.

• Age >18, <50 years

Exclusion Criteria:

• Failure to meet one of the inclusion criteria

• Patients in treatment with Idebenone

• Wheelchair bound patients

• Significant renal, hepatic or haematological disease

• Positive history for arterial or venous thrombosis

• Acute diseases that might interfere with the study

• Positive history for arterial hypertension

• Present or programmed pregnancy

• Known hypersensitivity to study drug

• Other unacceptable concomitant medications (in particular agents thought to have a neuroprotective potential as tocopherol, amantadine, memantine, free radical scavengers).