This study is designed to determine if chelation therapy with desferrioxamine will reduce mitochondrial iron overload and arrest disease progression in patients with Friedreich ataxia. This study is based on findings in yeast that mutations of the frataxin gene (or in the yeast, the homolog of frataxin) result in mitochondrial iron overload and mitochondrial dysfunction. Seven patients have been entered on this study. No toxicity from desferrioxamine has been detected. All patients have had a decrease in total body iron stores, as indicated by a decrease in the serum ferritin concentration. No patient has developed iron-deficiency anemia. Abnormalities on cardiac biopsy have been noted in every patient with dense punctate deposits within mitochondria. Improvement in electroretinograms in several patients is the first indication that the therapy may be useful in arresting (or perhaps improving) neurologic function. The primary endpoint of this study is a reduction of cardiac mitochondrial iron overload as demonstrated by cardiac myocyte biopsies before and after one year of chelation. The first patients will reach the one-year study point in the autumn of 1999.
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