COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC:

Get the latest research information from NIH: Menu

Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00631202
Recruitment Status : Completed
First Posted : March 7, 2008
Last Update Posted : May 27, 2010
Information provided by:
Federico II University

Brief 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.

Condition or disease Intervention/treatment Phase
Friedreich's Ataxia Drug: Epoetin alfa Phase 2

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.

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 10 participants
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
Study Start Date : February 2008
Actual Primary Completion Date : December 2008
Actual Study Completion Date : June 2009

Arm Intervention/treatment
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

Primary Outcome Measures :
  1. 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 :
  1. Echocardiography: Strain and strain rate after EPO administration at the highest study dose [ Time Frame: 0, 30 days ]
  2. Safety laboratory parameters, adverse events and tolerability [ Time Frame: 0, 7, 15, 30, 60 days ]
  3. International cooperative ataxia rating scale (ICARS). [ Time Frame: 0, 7, 30 days ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
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).

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00631202

Layout table for location information
Dipartimento di Scienze Neurologiche
Naples, Italy, 80131
Sponsors and Collaborators
Federico II University
Layout table for investigator information
Study Director: Alessandro Filla, MD Dipartimento di Scienze Neurologice, University "Federico II" Naples

Additional Information:
Layout table for additonal information
Responsible Party: Prof. Alessandro Filla, Dipartimento di Scienze Neurologiche Identifier: NCT00631202    
Other Study ID Numbers: FA_EPO_3
First Posted: March 7, 2008    Key Record Dates
Last Update Posted: May 27, 2010
Last Verified: May 2010
Keywords provided by Federico II University:
Epoetin alfa
Additional relevant MeSH terms:
Layout table for 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