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Displaying 6 studies
The purpose of this study is to evaluate acetazolamide for the treatment of ataxia in patients with PMM2-CDG.
The purpose of this study is to create a repository for cerebellar ataxia and nucleotide repeat diseases in order to fully investigate the genetic and phenotypic presentations of both.
The purpose of this study is to test the safety and effectiveness of synthetically produced (+) Epicatechin for treating patients who have Friedreich's Ataxia, a neurological disorder.
The Mitochondrial Disease Biobank is a place to store blood and tissue samples from people with symptoms of mitochondrial disease. Health information about each donor will be attached to the samples.
The purpose of this study is to compare the effectiveness of BHV-4157 (200mg once daily) versus placebo after 48 weeks of treatment in subjects with spinocerebellar ataxia (SCA).
The purpose of this study is to create a clinical registry of patients with FRDA seen at Mayo Clinic.