Until recently, the only therapeutic options for people with Friedreich ataxia were symptomatic and focused on symptom management: mobility aids, surgery, psychotherapy, speech therapy, heart medications, hearing and vision aids. However, the Friedreich ataxia community received hugely exciting news when the U.S. Food and Drug Administration (FDA) approved Skyclarys (omevoloxolone). This is the first FDA approval within this specific disease state.
In a news release from the FDA, the organization shared more information on the approval and on Skyclarys itself. Skyclarys is an orally administered therapy. It has received Orphan Drug, Priority Review, Rare Pediatric Disease, and Fast Track designations in the United States, as well as Orphan Drug designation in the European Union. Learn more about Skyclarys here.
The drug approval was supported by safety and efficacy data from a Phase 2 clinical study and open-label extension (OLE). 103 patients enrolled. During the initial 48-week period, patients received either 150mg Skyclarys or a placebo. Researchers sought to evaluate how Skyclarys improved or affected the modified Friedreich’s Ataxia Rating Scale (mFARS) score. This score measures Friedreich ataxia progression.
Ultimately, the study found that Skyclarys improved mFARS scores, improved coordination, and reduced speech and swallowing difficulties within the 48-week period. Data from the OLE also shows durable and sustained treatment responses over a three-year period. While Skyclarys is safe and relatively well-tolerated, some adverse reactions may occur. These may include headache, diarrhea, abdominal pain, fatigue, nausea, musculoskeletal pain, and increased AST and ALT levels.
What is Friedreich Ataxia (FRDA/FA)?
Also referred to as Friedreich’s Ataxia, Friedreich ataxia is a rare genetic disease that causes progressive movement and nervous system issues. FXN gene mutations cause Friedreich ataxia. Normally, this gene encodes for the production of frataxin, a protein that plays a role in mitochondrial function. An estimated 1 in every 40,000-50,000 people in the United States has Friedreich ataxia.
Symptoms relating to Friedreich ataxia usually manifest between ages 5-15. However, it is considered late-onset if symptoms appear after 25 years old and very late-onset if symptoms appear after 40 years old. People with the late-onset and very late-onset forms often experience slower disease progression. Symptoms of this disease can, but do not always, include:
- Ataxia (impaired muscle coordination)
- Poor balance and coordination
- Difficulty walking
- Scoliosis (abnormal spinal curvature)
- Chest pain
- Impaired sensory function
- Shortness of breath
- Cardiac arrhythmias
- Slowed or slurred speech
- Hearing/vision loss
- Heart disease