Friedreich ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder caused a mutation in the FXN gene, which encodes a protein named frataxin. As a result of the mutation, frataxin is quantitatively reduced but qualitatively normal. Thus, any pharmacological agent able to increase frataxin intracellular levels would have a great therapeutic relevance. MedDRA version: 6.1 Level: PT Classification code 10003591
Conditions
Interventions
Trade Name: EPREX*1FL 40000UI/ML 1ML
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: Erythropoietin
Other descriptive name: Erythropoietin
Concentration unit: IU international unit(s)
Sponsors
ISTITUTO NEUROLOGICO "CARLO BESTA"
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1.male or female aged 18 to 40 years; 2.Clinical diagnosis of FRDA; 3.Genetic confirmation of FRDA diagnosis, with evidence of presence of >300 GAA triplets on both alleles; 4.Effective contraception during the study 5.No conditions known to be contraindications to the use of EPO 6.written informed consent. Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: 1.Hypertrophic cardiopathy, with interventricular septum and/or left ventricle posterior wall thickness >14 mm; 2.Hypertension (defined as a repeatedly elevated blood systolic pressure above 140 mmHg with a diastolic pressure above 90 mmHg), in the absence of anti-hypertensive treatment; 3.Presence of other neurological disorders, hemathological disorders, or major comorbidities (e.g. psychiatric disease, heart or lung failure, active malignancy, polycythemia; myeloproliferative disorder, hypercoagulable disorders, porphyria); 4.Subjects with known hypersensitivity to human albumin; 5.Treatment with any potential therapeutic agents for FRDA during the three months prior to screening (except for idebenone at the standard dosage of 5 mg per kg per day); 6.Hematocrit (Hct) >50%; 7.Haemoglobin >16 g/dL; 8.Female subjects who are pregnant or lactating 9.Employees of the investigator or study centre with direct involvement in the proposed study or other studies under the direction of that investigator or study centre.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Efficacy evaluation: The primary efficacy endpoint will be: Increased level of frataxin protein in peripheral lymphocytes;Secondary Objective: The secondary endpoints will include: Ataxia Rating Scale (ICARS) SF-36 Quality of Life rating scale Echocardiogram Skin biopsy: observation of sensory nerve fibre regeneration;Primary end point(s): To assess safety and tolerability of rhuEPO administration in patients with FRDA, and to evaluate its efficacy in incrementing the levels of frataxin protein in the patients? peripheral blood lymphocytes. | — |
Countries
Italy
Outcome results
None listed