Friedreich's ataxia: idebenone treatment in early stage patients.

摘要: BACKGROUND Antioxidant therapy has been applied to Friedreich's ataxia patients. We assessed the effect of idebenone treatment in patients with ataxia. METHODS DESIGN open-label trial. Nine (age range 11 - 19 years) were treated (5 mg/kg/day). Patients evaluated before start and throughout one year by International Cooperative Ataxia Rating Scales (ICARS) scores, neurophysiological investigations echocardiographic measurements. Serum concentrations measured HPLC electrochemical detection. The number GAA repeats at frataxin gene was analyzed PCR. RESULTS ranged between 0.04 0.37 micro mol/L. Significantly positive correlation observed values percentage difference ICARS scores 12 months after (r = 0.883; p 0.002). Significant reduction comparing baseline conditions 3 (p 0.017). No differences measurements therapy. CONCLUSIONS Cerebellar improvement notable mild first Idebenone early stages disease seems reduce progression cerebellar manifestations. Further blind trials a greater higher doses are needed fully assess therapeutic potential