Effects of recombinant human Erythropoietin on circulating and intramuscular endothelial progenitor cells, neovascularisation and oxidative metabolism of skeletal muscle in Friedreich’s Ataxia

Phase 1

• Conditions: Friedreich's ataxia (FRDA) is the most common autosomal recessive neurodegenerativ disease (1:50 000) affecting the central and peripheral nervous system. Extraneural organs are also affected during the course of the disease as a significant proportian of patients develop cardiomyopathy or diabetes. FRDA is caused by a GAA triplet expansion in the FRDA gene on chromosome 9q13 resulting in a loss of function of the gene product Frataxin.

• Registration Number: EUCTR2008-000040-13-AT
• Lead Sponsor: Medizinische Universität Innsbruck, Univ.-Klinik für Neurologie

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2009-01-27
• Last Update Posted: 30 November 2020

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 7

Inclusion Criteria

Seven adult subjects with definite FRDA will be enroled in this study. Skeletal muscle will be ob-tained by an open biopsy from at baseline (untreated) and after 2 months of rhuEPO treatment after written informed consent. Treatment encompasses rhuEPO 3.000 IU (~100 IU/kg KG) three times weekly subcutaneously for 8 weeks. Specimen from the quadriceps muscle and MR spec-troscopy from the contralateral side will be obtained pre- and post rhuEPO treatment. Frataxin-levels will be assessed in lymphocytes and muscle specimen at baseline and study end-point. Fur-thermore, FACS analysis of circulating CD34+ and CD133+ cells in peripheral blood will be perfo-med bi-weekly. The numbers of CD34+ and CD133+ cells and capillary density per mm2 will be quantified in skeletal muscle at baseline and after 8 weeks EPO treatment. Biochemically, complex I, II, and III of the respiratory chain in the quadriceps muscle will be evaluated pre-and post treat-ment.
Are the trial subjects under 18? no
Number of subjects for this age range:
F.1.2 Adults (18-64 years)
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years)
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

Exclusion criteria for participation in this study are hemoglobin-levels above 14mg/dl at the begin-ning of the study, malignancies, thrombocytosis, other diseases like chronic inflammatory disease, chronic alcohol abuse, severe diabetes mellitus type I and II (HbA1c above 8%), chronic liver in-sufficiency, epilepsy, cardiac insufficiency (NYHA above 2), history of thrombotic / thromboembolic events, anticoagulation, pregnancy and breast feeding, iron deficiency, vitamin B12 and folate de-ficiency, cardiovascular diseases, severe psychiatric disorders, known hypersensitivity to erythro-poietin, participation to another clinical trial.

Study & Design

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