News

Supplementation with alpha-lipoic acid (ALA), a naturally occurring antioxidant, boosts the production of frataxin, the protein that’s deficient in people with Friedreich’s ataxia (FA), according to a cell-based study. Alpha-lipoic acid reversed many cellular features of FA, including dysfunction of energy-producing mitochondria, impaired iron metabolism, and oxidative stress, a…

Skyclarys (omaveloxolone) may improve the function of peripheral sensory nerves — those found outside the brain and spinal cord, which detect sensations and help provide the brain with information — in people with Friedreich’s ataxia (FA). That’s according to a new report from Slovenia describing the cases of two sisters…

A new study reports that Skyclarys (omaveloxolone) improves the heart’s ability to contract and pump blood while reducing inflammation and heart failure markers in a mouse model of Friedreich’s ataxia (FA) with severe heart disease. Skyclarys had no impact on the development of scar tissue, or fibrosis, in…

On a hot, Texas afternoon, Madelyn Raynsford’s home buzzes with the practical chaos of preparing for a new life: half-packed boxes, baby gear spread out, her two dogs lounging nearby. Her computer screen is filled with tabs researching safe and adaptive feeding options. Baby bottles top the list — not…

Levels of mitochondrial complex 1 (MC1) — a group of proteins essential to the function of mitochondria, cells’ powerhouses — are lower than normal in the hearts of people with Friedreich’s ataxia (FA), a small study showed. The findings indicate that imaging of MC1 could be a useful biomarker…

The U.S. Food and Drug Administration (FDA) has declined to approve the oral therapy vatiquinone for treating children and adults with Friedreich’s ataxia (FA). In a complete response letter, the regulatory agency said it would not approve vatiquinone at this time because of a lack of adequate data…

People with Friedreich’s ataxia (FA) show distinct changes in the blood proteins neurofilament light chain (NfL) and tau that could help track the disease and measure the effects of treatment, a study finds. In younger patients, NfL levels were sharply higher than in healthy people, making it a promising…

A committee of Canada’s Drug Agency (CDA) has recommended that insurers should cover the cost of Skyclarys (omaveloxolone) for Friedreich’s ataxia (FA), but only under certain conditions, including a substantial reduction in the drug’s cost. “The CDA recommendation represents an important step toward changing that reality by…

Genetic mutations causing Friedreich’s ataxia (FA) and influencing disease severity may be more complex than previously understood, according to research from the University of Oklahoma. Sanjay Bidichandani, PhD, genetics section chief at the university’s medical college, used a new genetic sequencing technique to find “spelling errors” in the FXN gene…

An experimental therapy may help increase the protein that’s missing or deficient in Friedreich’s ataxia (FA) in people with a rare mutation in the FXN gene, a new study suggests. The therapy targets a rare mutation, known as c.165+5G>C, which has been reported in only three patients to date. The…