Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia

May 26, 2010 updated by: Federico II University

Single-Center, Open-Label, Sequential Trial to Test the Efficacy, Safety and Tolerability of Epoetin Alfa in Patients With Friedreich's Ataxia

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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.

Study Type

Interventional

Enrollment (Anticipated)

10

Phase

  • Phase 2

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Italy
      • Naples, Italy, 80131
        • Dipartimento di Scienze Neurologiche

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 50 years (Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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).

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: Non-Randomized
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / 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 Names:
  • Eprex 40.000 IU

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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
0, 24, 48, 96 hours; 7, 15, 30, 60 days

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Federico II University

Investigators

  • Study Director: Alessandro Filla, MD, Dipartimento di Scienze Neurologice, University "Federico II" Naples

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

February 1, 2008

Primary Completion (Actual)

December 1, 2008

Study Completion (Actual)

June 1, 2009

Study Registration Dates

First Submitted

February 28, 2008

First Submitted That Met QC Criteria

February 28, 2008

First Posted (Estimate)

March 7, 2008

Study Record Updates

Last Update Posted (Estimate)

May 27, 2010

Last Update Submitted That Met QC Criteria

May 26, 2010

Last Verified

May 1, 2010

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • FA_EPO_3

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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