Artuch R, Aracil A, Mas A, Colomé C,Rissech M, Monrós E, Pineda M.

Biochemistry Department, Neurology Department, Pharmacy Department, Cardiology Department, and Genetics Department. Hospital Sant Joan de Dèu, University of Barcelona, Spain.

E-mail: rartuch@hsjdbcn.org

Abstract: Antioxidant therapy has been applied to Friedreich's ataxia patients. We assessed the effect of idebenone treatment in patients with Friedreich's ataxia.

Methods: Nine Friedreich's ataxia patients (age range 11-19 years) were treated with idebenone (5mg/kg/day). Patients were evaluated before the start of the therapy and throughout one year of treatment by the ICARS scores, neurophysiological investigations and echocardiographic measurements. Serum idebenone concentrations were measured by HPLC with electrochemical detection. The number of GAA repeats at the frataxin gene was analyzedby PCR.Results: Serum idebenone concentrations ranged between 0.04-0.37 µmol/L. Significantlypositive correlation was observed between idebenone values and the percentage of difference between the ICARS scores before and 12 months after the start of the therapy (r=0.883; p = 0.002). Significant reduction was observed comparing the ICARS scores in baseline conditions and after 3 months of treatment (p=0.017). No differences were observed in echocardiographic measurements after the start of the therapy.

Conclusions: Cerebellar improvement was notable in mild patients after the first 3 months of therapy. Patients with a greater number of repeats seem to need higher doses of idebenone. Idebenone treatment at early stages of the disease seems to reduce the progression of cerebellar manifestations.