Randomized placebo-controlled double-blind trial to assess safety and efficacy of erythropoietin in adult patients with Friedreich's ataxia (a pilot study) - ND

Conditions: 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: 6.1Level: PTClassification code 10003591

Registration Number: EUCTR2007-003357-85-IT

Lead Sponsor: ISTITUTO NEUROLOGICO CARLO BESTA

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: Not specified

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

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.