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.
Conditions
Interventions
Trade Name: Neorecormon
Product Name: Neorecormon
Product Code: EU1/97/031-032
Pharmaceutical Form: Solution for injection
INN or Proposed INN: H-116PI-DE.pdf
Other descriptive name: Epoeitin beta
Con
Sponsors
Medizinische Universität Innsbruck, Univ.-Klinik für Neurologie
Eligibility
Sex/Gender
All
Inclusion criteria
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: 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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Aims of the proposed study 1) to investigate morphological and biochemical parameters of skeletal mus-cle systematically, to identify hematopoietic progenitor cells (CD34, CD133) as well as to measure baseline Frataxin expression in skeletal muscle (specimen) of FRDA patients. 2) to measure numbers of circulating CD34 and CD133 hematopoietic progenitor cells in peripheral blood of FRDA patients in response to rhuEPO treatment; 3) to study effects of rhuEPO treatment on Frataxin expression, numbers of CD34 and CD133 hematopoietic progenitor cells, satellite cells, capillary density and respiratory chain complex activi-ties of skeletal muscle tissue obtained by re-biopsy. 4) to identify changes in muscle energy metabolism (in-vivo marker) in skeletal muscle of rhuEPO treated FRDA patients applying magnetic resonance spectros-copy at baseline and study endpoint. ;Secondary Objective: ;Primary end point(s): 1) to investigate morphological and biochemical parameters of skeletal muscle systematically, to identify hematopoietic progenitor cells (CD34, CD133) as well as to measure baseline Frataxin expression in skeletal muscle (specimen) of FRDA patients. 2) to measure numbers of circulating CD34 and CD133 hematopoietic progenitor cells in peripheral blood of FRDA patients in response to rhuEPO treatment; 3) to study effects of rhuEPO treatment on Frataxin expression, numbers of CD34 and CD133 hematopoietic progenitor cells, satellite cells, capillary density and respiratory chain complex activities of skeletal muscle tissue obtained by re-biopsy. 4) to identify changes in muscle energy metabolism (in-vivo marker) in skeletal muscle of rhuEPO treated FRDA patients applying magnetic resonance spectroscopy at baseline and study endpoint. | — |
Countries
Austria
Outcome results
None listed