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Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia

This study has been completed.
Information provided by:
Federico II University Identifier:
First received: February 28, 2008
Last updated: May 26, 2010
Last verified: May 2010

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.

Condition Intervention Phase
Friedreich's Ataxia Drug: Epoetin alfa Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Single-Center, Open-Label, Sequential Trial to Test the Efficacy, Safety and Tolerability of Epoetin Alfa in Patients With Friedreich's Ataxia

Resource links provided by NLM:

Further study details as provided by Federico II University:

Primary Outcome Measures:
  • Primary endpoint will be the frataxin level in PBMCs from patients at different timing from a single Epoetin alfa administration. [ Time Frame: 0, 24, 48, 96 hours; 7, 15, 30, 60 days ]

Secondary Outcome Measures:
  • Echocardiography: Strain and strain rate after EPO administration at the highest study dose [ Time Frame: 0, 30 days ]
  • Safety laboratory parameters, adverse events and tolerability [ Time Frame: 0, 7, 15, 30, 60 days ]
  • International cooperative ataxia rating scale (ICARS). [ Time Frame: 0, 7, 30 days ]

Estimated Enrollment: 10
Study Start Date: February 2008
Study Completion Date: June 2009
Primary Completion Date: December 2008 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: I
Treatment arm
Drug: Epoetin alfa
Patients that will satisfy all inclusion/exclusion criteria will be sequentially treated with three single Epoetin alfa administrations. The first time the dose will be 600U/KG BW s.c. in a single administration. The outcome measures will be assessed. A washout period of 1 month will be necessary to eliminate any carry-over effect. A second administration of 1200U/KG BW s.c. will be performed. Outcome measures will be again assessed.
Other Name: Eprex 40.000 IU

Detailed 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.

Ages Eligible for Study:   18 Years to 50 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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).
  Contacts and Locations
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Please refer to this study by its identifier: NCT00631202

Dipartimento di Scienze Neurologiche
Naples, Italy, 80131
Sponsors and Collaborators
Federico II University
Study Director: Alessandro Filla, MD Dipartimento di Scienze Neurologice, University "Federico II" Naples
  More Information

Additional Information:
Responsible Party: Prof. Alessandro Filla, Dipartimento di Scienze Neurologiche Identifier: NCT00631202     History of Changes
Other Study ID Numbers: FA_EPO_3
Study First Received: February 28, 2008
Last Updated: May 26, 2010

Keywords provided by Federico II University:
Epoetin alfa

Additional relevant MeSH terms:
Cerebellar Ataxia
Friedreich Ataxia
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases
Epoetin Alfa
Hematinics processed this record on September 21, 2017