Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia

Federico II University

Status and phase

Completed

Phase 2

Conditions

Friedreich's Ataxia

Treatments

Drug: Epoetin alfa

Study type

Interventional

Funder types

Other

Identifiers

NCT00631202

FA_EPO_3

Details and patient eligibility

About

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.

Full description

Friedreich ataxia (FRDA) is an inherited recessive disorder characterized by progressive neurological disability. FRDA is the consequence of frataxin deficiency. Although several drugs have been proposed for FRDA, there is no available treatment. Recently it was shown that recombinant human erythropoietin (rhu-EPO) administration increases frataxin expression in cultured human lymphocytes of FRDA patients. It is therefore of primary importance to test extensively rhu-EPO's ability in increasing frataxin levels in-vitro and in-vivo. In addition rhu-EPO is an already available and commercialized drug approved for the treatment of anaemia associated with chronic renal disease, heart failure and cancer. Towards this overall purpose, we will perform an acute clinical trial in FRDA patients with rhu-EPO and will assess its effect in-vivo on frataxin expression. In addition, rhu-EPO's safety in FRDA patients based on laboratory parameters and neurological indexes will be tested. The results will be useful to gain new insight in the role of rhu-EPO in FRDA, and in the future, it may be useful to plan further clinical trials.

Enrollment

10 estimated patients

Sex

All

Ages

18 to 50 years old

Volunteers

No Healthy Volunteers

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).