## Abstract In a “proof‐of‐concept” study, we demonstrated that recombinant human erythropoietin (rhuEPO) increases frataxin levels in Friedreich's ataxia (FRDA) patients. We now report a 6‐month open‐label clinical pilot study of safety and efficacy of rhuEPO treatment in FRDA. Eight adult FRDA pa
A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial
✍ Scribed by David R. Lynch; Steven M. Willi; Robert B. Wilson; M. Grazia Cotticelli; Karlla W. Brigatti; Eric C. Deutsch; Olena Kucheruk; William Shrader; Patrice Rioux; Guy Miller; Amale Hawi; Thomas Sciascia
- Book ID
- 112143448
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 455 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0885-3185
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## Abstract ## Background: Friedreich ataxia is a rare disease caused by GAA‐trinucleotide‐repeat expansions in the frataxin gene, leading to marked reduction of qualitatively normal frataxin protein. Recently, human recombinant erythropoietin was reported to increase frataxin levels in patients w
## Abstract Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia of all four limbs, dysarthria, and arreflexia. A variety of measures are currently used to quantify disease progression, including the Friedreich Ataxia Rating Scale, examiner‐rated functional