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Home > Drugs > Treatments > Friedreich’s Ataxia

Medications for Friedreich’s Ataxia

Friedreich’s ataxia is a rare, genetic, degenerative neuromuscular disorder characterized by progressive loss of coordination, muscle weakness, and fatigue. Patients with Friedreich’s ataxia become incapacitated and eventually require a wheelchair.

Friedreich’s ataxia is caused by a trinucleotide repeat expansion in the first intron of the frataxin gene, which encodes the mitochondrial protein frataxin. Pathogenic repeat expansions can lead to impaired transcription and reduced frataxin expression, which can result in mitochondrial iron overload and poor cellular iron regulation, increased sensitivity to oxidative stress, and impaired mitochondrial ATP production.

Skyclarys (omaveloxolone) is the first therapy specifically indicated for the treatment of Friedreich’s ataxia. It works as an activator of Nrf2, a transcription factor that induces molecular pathways that promote the resolution of inflammation by restoring mitochondrial function, reducing oxidative stress, and inhibiting pro-inflammatory signaling.

 

Drugs used to treat Friedreich’s Ataxia

Name Drug Class Updated
Skyclarys Miscellaneous central nervous system agents 05-Aug-2023
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