New Hope for Friedreich's Ataxia Patients: FDA Approves Omaveloxolone as a New Treatment Option

April 21, 2023

Friedreich's Ataxia (FA) is a rare genetic disorder that affects approximately 1 in 50,000 people worldwide. It is a progressive condition that primarily affects the nervous system, leading to symptoms such as difficulty with balance and coordination, muscle weakness, and speech problems. The disease often begins in childhood and worsens over time, greatly impacting a patient's quality of life. However, there is hope for those living with this debilitating disease, as the U.S. Food and Drug Administration (FDA) has recently approved a new treatment option, SKYCLARYS, the oral, once-daily medication, also known as omaveloxolone. This drug has been shown to improve neurological function in patients with FA, offering hope for those struggling with this condition.

"The great news about the approval of omaveloxolone is that people with FA aged 16 or over living in the USA no longer have to hear that there is no approved therapy for their condition,” said Matthew Wood, Director of the Oxford-Harrington Rare Disease Centre (OHC) and Professor at the University of Oxford. “There is now a once-daily, oral medication available to them that will alter the progression of their disease, so it's a big milestone for the community. Additionally, it highlights the importance of our mission here at the OHC to deliver new medicines for patients suffering from rare disease."

Friedreich’s Ataxia was chosen as the first disease priority area of the OHC and on 3rd February 2022 the Friedreich’s Ataxia Alliance at Oxford (FA Alliance) was formally launched. The FA Alliance, a consortium of investigators, will work collaboratively with the existing global FA research and therapeutic development community to accelerate delivery of therapies to treat FA, such as omaveloxolone.

Omaveloxolone is a novel drug that has recently been approved by the FDA for the treatment of FA in individuals aged 16 and above. The goal of the OHC is to deliver 20 drugs in the next ten years and this development fuels much needed hope within the rare disease community.

The effectiveness of omaveloxolone as a treatment option for FA was evaluated in clinical trials involving over 100 patients with the condition. The studies found that treatment with omaveloxolone resulted in significant improvements in neurological function, as measured by clinical investigation scales. In addition, patients who received the drug experienced fewer symptoms and better quality of life compared to those who received a placebo. Furthermore, analysis of an extension phase of the trial also indicated a long-term benefit of omaveloxolone treatment on disease course in FA up to 144 weeks (2 years 9 months).

Based on the positive results of these trials, the FDA approved Reata Pharmaceuticals’ SKYCLARYS for the treatment of FA on February 28, 2023 (Rare Disease Day). It becomes the first ever approved therapy for FA, representing a major milestone for the community. While the drug is not a cure, it has been shown to be effective in improving the symptoms of the disease and slowing down its progression.

Professor Wood said, “This drug will slow the progression of FA, but it is not a cure. It is acting further downstream of the genetic cause underlying FA. For this reason, the advanced therapeutic approaches we often hear discussed such as gene or cell therapy, gene editing, CRISPR and oligonucleotides are still required, so we will continue to identify projects that are aiming to develop these sorts of therapeutics for FA. FA is a multisystem disease affecting the central nervous system as well as the heart and pancreas, so it is likely that multiple therapies will be required to treat FA. This is hopefully only the first of several medicines that will be approved.”

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Related link: New Hope for Patients with Friedreich's Ataxia: The Promise of Omaveloxolone Read about the approval of omaveloxolone in Harrington Discovery Institute's blog.