Phase 2 Study of Deferiprone in the Treatment of NBIA

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DESCRIPTION (provided by applicant): This is a clinical study to treat patients with a rare genetic movement disorder known as neurodegeneration with brain iron accumulation (NBIA). It is characterized by the progressive degeneration of the nervous system and iron accumulation in the brain, primarily the basal ganglia. There is no cure for NBIA, which primarily affects children. Iron chelator therapy has been proposed, but not systematically studied as a treatment because of the lack of an iron chelator that effectively crosses the blood-brain barrier. Deferiprone, an oral iron chelator, used internationally for the treatment of systemic iron overload, crosses the blood-brain barrier. Clinical reports suggest deferiprone at approximately 30 mg/kg/day has radiographic and clinical efficacy in symptomatic patients with excess brain iron but no systemic iron accumulation. The primary aim of this study is to establish the safety of deferiprone in NBIA, and demonstrate efficacy of deferiprone in diminishing dystonic behaviors. The proposed research study will be a blinded, placebo-controlled, randomized trial of drug versus placebo in a 2:1 ratio in 40 patients over a four year period. Patients eligible will be NBIA/PKAN mutation positive, over 8 years of age, who have failed therapy and have shown clinical progression without improvement over the last six months. An MRI protocol using R2 of the brain will measure changes in brain iron content. Outcome measures will include improvement in neurologic and functional assessments.