Friedreich's ataxia is a rare, inherited, progressive neurodegenerative disease caused by mutations in the FXN gene, which reduces production of frataxin, a protein essential for normal mitochondrial function and cardiac health. Symptoms typically begin in childhood and include progressive loss of coordination, muscle weakness, and fatigue. Most patients experience worsening mobility and often require a wheelchair by their teens or early twenties.
Approximately 80% of individuals with Friedreich's ataxia develop cardiomyopathy, which is a major contributor to morbidity and mortality. Skyclarys, developed by Reata Pharmaceuticals Inc., is the only FDA-approved drug for Friedreich's ataxia in adults and adolescents aged 16 and older. Approved in February 2023, the drug is indicated to slow the loss of strength and coordination and slow Friedreich's ataxia (FA) disease progression. However, there are currently no approved therapies specifically for FA-associated cardiomyopathy.
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