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CHOP Research Paved Way for First FDA-approved Treatment for Friedreich’s Ataxia
As part of the Friedreich's Ataxia Center of Excellence, Children's Hospital of Philadelphia was a lead study site for the clinical trial that led to the approval of omaveloxolone (Skyclarys), a once-a-day oral pill meant to improve neurological function and slow the progression of Friedreich's ataxia (FA), an inherited neurodegenerative disorder. The is the first treatment approved by the U.S. Food and Drug Administration for the disease that is found in approximately one in 50,000 people worldwide.
Manufactured by Reata Pharmaceuticals, a biopharmaceutical company focused on developing and commercializing novel therapies for patients with severe diseases, omaveloxolone is approved for people ages 16 to 40 with genetically confirmed FA.
"As the first approved drug for FA, this is a major event not only for FA but also for all ataxias and the rare disease community," said David Lynch, MD, PhD, co-director of the Friedreich's Ataxia Center of Excellence and director of the Friedreich's Ataxia Program at CHOP. "We are grateful for the support of the Friedreich's Ataxia Research Alliance (FARA), whose generous funding supported the background research that paved the way for this development, and to the patients who participated in the trials that led to this approval."
The Friedreich's Ataxia Center of Excellence maintains a dynamic research program focused on FA that spans clinical, translational, and basic science research efforts leading to a greater understanding of the metabolic dysfunction underlying the disorder.
In studies led by Dr. Lynch, omaveloxolone, a potent activator of Nrf2, a transcription factor that regulates the cellular defense against oxidative stress, was shown to be effective at improving symptoms and slowing progression of the disease, effectively sending patients back in time, on average, by a year or two and keeping them at that disease state for three to four years.
Understanding Friedreich's Ataxia
Although rare, FA is the most common form of hereditary ataxia found in children. The disease affects the function of the cerebellum, the part of the brain that helps plan and coordinate movements. Those with FA experience progressive loss of speech, balance, and coordination; muscle weakness; and fatigue. In most cases, the disease begins in childhood and commonly progresses to motor incapacitation and wheelchair reliance approximately 10 to 15 years after disease onset and eventually death.
FA is caused by mutations in the frataxin gene, which leads to dysfunction in the mitochondria — the biological batteries that produce energy within the cell — causing decreased production of adenosine triphosphate (ATP), the energy that powers cellular function. Studies have shown that those with the condition have impaired signaling of Nrf2, leading researchers to investigate the potential of treatments that activate Nrf2 to restore its function.