Erythropoieitn in Friedreich Ataxia

Phase 1

• Conditions: FRIEDREICH ATAXIA; MedDRA version: 14.1Level: PTClassification code 10008025Term: Cerebellar ataxiaSystem Organ Class: 10029205 - Nervous system disorders; Therapeutic area: Diseases [C] - Nervous System Diseases [C10]

• Registration Number: EUCTR2011-006156-37-IT
• Lead Sponsor: IVERSITA' DEGLI STUDI DI NAPOLI FEDERICO II

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2012-07-26
• Last Update Posted: 17 July 2017

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

• Molecular diagnosis of Friedreich Ataxia • Age =12 years • Body weight =30 Kg • SARA score =30 • Patient able to read and sign the informed consent
Are the trial subjects under 18? yes
Number of subjects for this age range: 10
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 50
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

• Treatment with Erythropoietin in the previous 12 months • Treatment with Idebenone • Contraindications to cardiopulmonary test: valvulopathies, 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 significant by the investigator (any abnormal and clinically non significant cardiac disease associated with Friedreich Ataxia is not an exclusion criteria) • Any clinically significant ECG abnormalities that may interfere with the study • Any abnormal and clinically significant 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 1 month 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, or - Breastfeeding, or - Inadequate contraception

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: efficacy of Epoetin alfa on exercise capacity in patients with Friedreich Ataxia;Secondary Objective: • Assess the efficacy of the study drug on frataxin levels • Assess the efficacy of the study drug on cardiomyopathy • Assess the efficacy of the study drug on vascular reactivity* • Assess the efficacy of the study drug on clinical progression • Assess the safety and tolerability of the study drug • Quality of life;Primary end point(s): Primary Endpoint is the peak oxygen consumption (VO2 max) at the cardiopulmonary exercise test (CPET);Timepoint(s) of evaluation of this end point: 0, 24, and 48 weeks

Secondary Outcome Measures

Name	Time	Method
Secondary end point(s): • Secondary outcome variables at the CPET • Difference in frataxin levels in peripheral blood mononuclear cells (PBMCs), at all time points • Difference in the main Echocardiographic parameters at 6, and 12 months • Difference in vascular reactivity measured with FMD at 6, and 12 months* • Difference in the clinical scale SARA at 6, and 12 months • Analysis of serious and non-serious adverse events recorded during the clinical trial • EQ-5D/ADL/IADL • 9HPT;Timepoint(s) of evaluation of this end point: 0, 12, 24, 36, and 48 weeks