FDA Approved: First treatment for Friedreich’s ataxia

The FDA approved the drug Skyclarys (Omaveloxolone) as the first treatment for Friedreich’s ataxia, a rare, inherited, degenerative disease that damages the nervous system, characterized by impaired coordination and walking.

Disease/ Condition

Friedreich’s ataxia is a rare genetic disease that causes difficulty walking, a loss of sensation in the arms and legs, and impaired speech. It’s also known as spinocerebellar degeneration.

“Ataxia” means lack of order. There are a number of types of ataxia with a number of causes. The disease causes damage to parts of your brain and spinal cord, and can also affect your heart.

Friedreich’s ataxia affects approximately 1 in every 40,000 people. Although there’s no cure for Friedreich’s ataxia, there are several treatments available to help you cope with the symptoms.

Symptoms of Friedreich’s ataxia

Friedreich’s ataxia can be diagnosed between the age 2 and a person’s early 50s, but it’s most commonly diagnosed between ages 10 and 15.

Difficulty with walking is the most common initial symptom of the condition. Other symptoms include:

• vision changes
• loss of hearing
• weak muscles
• lack of reflexes in your legs
• poor coordination or lack of coordination
• speech problems
• involuntary eye movements
• foot deformities, such as clubfoot
• difficulty sensing vibrations in your legs and feet

Friedreich’s ataxia Causes

Friedreich’s ataxia is a genetic disorder that’s inherited from both parents by what’s called “autosomal recessive transmission.” The disease is linked to a gene called FXN. Normally this gene will cause your body to produce up to 33 copies of a specific DNA sequence.

Side-effects of Friedreich’s ataxia

The most common side effects of Skyclarys were an increase in alanine transaminase and an increase in aspartate aminotransferase, which can be signs of liver damage, headache, nausea, abdominal pain, fatigue, diarrhea, and musculoskeletal pain.

Source: https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-treatment-friedreichs-ataxia?utm_medium=email&utm_source=govdelivery