Status:

COMPLETED

Efficacy Study of Epoetin Alfa in Friedreich Ataxia

Lead Sponsor:

Federico II University

Collaborating Sponsors:

Friedreich's Ataxia Research Alliance

Associazione Italiana per la lotta alle Sindromi Atassiche (AISA)

Conditions:

Friedreich Ataxia

Eligibility:

All Genders

12+ years

Phase:

PHASE2

Brief Summary

Friedreich's ataxia (FRDA) is a rare genetic disorder characterised by severe neurological disability and cardiomyopathy. Friedreich's ataxia is the consequence of frataxin deficiency. Although severa...

Detailed Description

Friedreich's ataxia (FA) is an autosomal recessive ataxia caused by a trinucleotide GAA expansion in the first intron of the FXN gene. The gene encodes for a 210aa mitochondrial protein called frataxi...

Eligibility Criteria

Inclusion

  • Molecular diagnosis of Friedreich Ataxia
  • Age ≥12 years
  • Body weight ≥30, ≤90 Kg
  • SARA score ≤30
  • Patient able to read and sign the informed consent
  • Patients able to perform a cardiopulmonary test

Exclusion

  • Treatment with Erythropoietin in the previous 12 months
  • Treatment with Idebenone
  • Contraindications to CPET: cardiac valve disease, ischemic cardiomyopathy, atrial fibrillation, asthma, chronic obstructive pulmonary disease, other arrhythmias judged as not compatible with exercise.
  • Any Cardiac and/or Hepatic and/or Renal disease judged as clinically relevant by the investigator
  • Any clinically relevant ECG abnormalities that may interfere with the study
  • Any abnormal and clinically relevant laboratory exams at screening visit that may interfere with the trial
  • Anemia with Hemoglobin \<10 g/dL
  • Positive history for venous and/or arterial thrombosis
  • Drug-resistant arterial hypertension
  • Positive history for drug-resistant epilepsy
  • Patients in treatment with not allowed study drugs (starting from 3 months prior to screening)
  • Any acute/chronic disease that might interfere with the clinical trial, as judged by the investigator
  • Hypersensitivity to Epoetin alfa or any other component of the study drug
  • Patients not able to comply to the study
  • For female patients (Sexually not active, hysterectomized, sterilized, menopause patients are excluded from the following criteria): pregnancy and/or breastfeeding and/or inadequate contraception.

Key Trial Info

Start Date :

January 1 2013

Trial Type :

INTERVENTIONAL

Allocation :

ACTUAL

End Date :

June 1 2015

Estimated Enrollment :

56 Patients enrolled

Trial Details

Trial ID

NCT01493973

Start Date

January 1 2013

End Date

June 1 2015

Last Update

August 11 2015

Active Locations (3)

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Page 1 of 1 (3 locations)

1

Università di Bari

Bari, BA, Italy, 70124

2

Università la Sapienza, Neurologia C

Rome, RM, Italy, 00186

3

Dipartimento di Scienze Neurologiche

Napoli, Italy, 80131