Efficacy Study of Epoetin Alfa in Friedreich Ataxia

• Status: Completed
• Trial end date: 2015-06-01
• Target enrollment: 0
• Participant gender: All

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 several drugs have been proposed, there is no available treatment. Four trials recently demonstrated that erythropoietin can increase the intracellular levels of frataxin. The present project is aimed at testing a long term therapeutic approach using erythropoietin, which is an already available and commercialised drug. The study will test the effect of erythropoietin on exercise capacity, which is reduced in patients with FRDA. Additional objectives of the study will be the drug's safety and tolerability, and its effect on frataxin, blood vessel reactivity, heart functional indexes, and disease progression.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Federico II University
• Collaborators: Associazione Italiana per la lotta alle Sindromi Atassiche (AISA); Friedreich's Ataxia Research Alliance
• Treatments: Epoetin Alfa

Criteria

Inclusion Criteria:

• 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 Criteria:

• 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.