March 1, 2023 — The United Mitochondrial Disease Foundation (UMDF) applauds the decision by the U.S. Food and Drug Administration (FDA) to approve a medication to treat Friedreich’s Ataxia (FA), making it the first disease associated with mitochondrial dysfunction to have an FDA approved treatment.
Yesterday evening (Feb. 28, 2023), Reata Pharmaceuticals announced the FDA has approved the New Drug Application for Omaveloxolone (omav), now known as SKYCLARYS™, for people confirmed to have FA, who are 16 years of age or older, and live in the US.
FA is a rare, progressive neuromuscular disease caused by mitochondrial dysfunction that affects an estimated 15,000 children and adults globally. Prior to this FDA action, there was no approved medication for FA.
“Today, we recognize the great work of the Friedreich’s Ataxia Research Alliance and Friedreich’s Ataxia community of investigators and affected families in getting a treatment approved,” said Brian Harman, President and CEO of UMDF. “The approval is great news for mitochondrial medicine, in general. It should encourage the mitochondrial disease community that approved treatments, and hopefully one day cures, are not only possible, but probable.”
Added Harman: “The FDA’s approval also reinforces UMDF’s position that the study of mitochondrial dysfunction could hold the key to treatments for not only rare inherited forms of mitochondrial disease, but a broad range of diseases – starting with Friedreich’s Ataxia – extending into Alzheimer’s, Parkinson’s, Amyotrophic lateral sclerosis (ALS), and many more.”
Is Friedreich’s Ataxia a mitochondrial disease?
Primary mitochondrial diseases are a collection of rare, inherited conditions that directly impact mitochondrial function and cause abnormal energy production as a primary feature. There are many genetic and non-genetic conditions such as FA that can cause the mitochondria to not work optimally. These are considered conditions with mitochondrial dysfunction. Whether a condition is considered a primary mitochondrial disease or a result of mitochondrial dysfunction is a subject that continues to evolve as our scientific knowledge expands. There is debate amongst researchers and clinicians as to whether FA should qualify as a primary mitochondrial disease. What we do know is the phenotypic features (symptoms) of FA are caused by mitochondrial dysfunction.
How does Friedreich’s Ataxia differ from most mitochondrial diseases?
FA is a monogenic condition (caused by one gene) with a uniform phenotype that is caused by a mechanism that is well-understood, making it different from primary mitochondrial diseases caused by mutations in several hundred genes.
Could this drug be used to treat a primary mitochondrial disease?
This medication was previously used in a clinical study of mitochondrial myopathy, but the trial was suspended before it could be concluded. The sponsor of the trial (Reata Pharmaceuticals) decided to continue with a separate clinical trial in the FA population.
Will this drug now be studied for other variations beyond mitochondrial myopathy and FA?
UMDF leadership as well as our Science and Medical Advisory Board are constantly in touch with industry partners like Reata Pharmaceuticals. Based on this success, we will be advocating for Omaveloxolone efficacy studies for mitochondrial disease variations including and beyond mitochondrial myopathy.
What about off-label use for mitochondrial disease?
Off-label use of medication is allowed in the USA, but insurance coverage could be problematic. While we don’t yet have any details, we anticipate this will be an expensive medication that insurance – both private and public – will only approve for patients with genetically-confirmed FA. If you have any questions about the role of SKYCLARYS™ in your specific condition, please discuss this with your healthcare professional. You may also reach out to a clinician at any Mitochondrial Care Center, who have specific mitochondrial disease expertise.