Acauã – A municipality in Piauí is witnessing a growing number of cases of Friedreich’s ataxia, a rare hereditary neurodegenerative disease that impairs coordination, balance and muscle strength. The condition, linked to genetic mutations and often associated with consanguinity, has appeared with unusual frequency in local families, prompting concern among public-health authorities.

Patients have been treated with omaveloxolone, a medication developed by Reata Pharmaceuticals, a U.S.-based company acquired by Biogen in 2023. The drug, marketed under the name Skyclarys, costs about R$ 199,000 per package and is one of the few therapies approved to slow the progression of Friedreich’s ataxia. Approved by the U.S. Food and Drug Administration (FDA) in 2023 and by Anvisa in 2024, the treatment acts by reducing oxidative stress in nerve cells and improving mitochondrial function.

Local and state health officials have begun implementing genetic-screening and early-diagnosis programs to identify carriers and patients eligible for treatment. The Ministry of Health is monitoring the situation to assess the possibility of incorporating the drug into the Unified Health System (SUS). Specialists note that the Piauí case highlights Brazil’s broader challenge in ensuring equitable access to high-cost therapies for rare diseases.

Source: UOL