CHOP was a lead clinical trial site for the treatment
The Food and Drug Administration (FDA) has approved omaveloxolone (brand name Skyclarys) the first treatment for Friedreich’s ataxia (FA), a rare, progressive neurogenetic condition that causes a progressive loss of coordination and muscle strength, eventually relegating patients to the full-time use of a wheelchair. As part of the Friedreich’s Ataxia Center of Excellence, Children’s Hospital of Philadelphia (CHOP) was a lead study site for the clinical trial that led to the treatment’s approval. The drug, manufactured by Reata Pharmaceuticals, is a once-a-day oral pill meant to improve neurological function and slow the progression of the disease.
“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, director of the Friedreich's Ataxia Program and an attending neurologist in the Division of Neurology at Children's Hospital of Philadelphia. “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.”
FA affects an estimated 5,000 patients in the United States and 22,000 patients globally. Although it is relatively rare, it is the most common form of inherited ataxia. The disease leads to degeneration of multiple areas in the brain and spinal cord, causing people with the disease to develop progressive difficulty with walking, coordination, and speech. Those with the condition tend to lose the ability to walk approximately 10 to 15 years after disease onset and typically die by their late 30s.
An autosomal recessive disorder, FA is caused by mutations in the frataxin gene, which leads to dysfunction in the mitochondria – the energy powerhouses of the cell – and consequently 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, a transcription factor that regulates the cellular defense against oxidative stress, so researchers have investigated the potential of treatments that activate Nrf2 to restore its function.
Omaveloxolone is a potent activator of Nrf2 and, in numerous studies led by Dr. Lynch, 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.
The treatment has been approved for those ages 16 to 40 with genetically confirmed FA. Learn more about the treatment and FDA approval here.