News

Fredrich’s ataxia (FA) impairs the regulation of hundreds of genes in muscle cells, resulting in reduced activity in those responsible for mitochondrial function and increased activity of repressor genes, a study reports. Addressing both aspects of this genetic abnormality “double hit” may be necessary to achieve the best therapeutic…

Researchers have identified a more high-throughput genetic sequencing method to quantify the GAA repeats in the FXN gene that cause Friedreich’s ataxia. Since the number of repeats has been linked to clinical disease presentation, a better way to show their quantity will aid a more accurate understanding of how a…

Altered connections between the cerebellum, a brain region important for coordinating voluntary movements, and the cerebral cortex, involved in higher-level processes, are associated with greater severity of Friedreich’s ataxia (FA), an MRI study showed. Unusual changes in connectivity also were seen to correlate with damage to the brain’s white…

A new mouse model of Friedreich’s ataxia (FA), designed to better reflect a more severe disease course, could help researchers study the disease’s mechanisms and develop new therapies. The mice, which reportedly house the largest number of GAA repeats in the FXN gene of any existing model — about 800-900 of…

Skyclarys (omaveloxolone), the first approved therapy for Friedreich’s ataxia (FA), demonstrate a favorable heart and liver safety profile in the MOXIe clinical trial, analyses of trial data report. Changes in markers of heart or liver function generally were not accompanied by changes in disease symptoms. Skyclarys “was…

Abnormalities found in sensory nerve cells — cells that detect body position and movement — derived from people with Friedreich’s ataxia (FA) may help explain the loss of coordination seen in FA patients, according to a cell-based study. These sensory nerves were unable to fully extend nerve fibers toward…

A new assay to measure levels of the frataxin protein in blood could be used to assess the effectiveness of treatments in early clinical trials. The researchers showed that measuring frataxin with this method, which uses pig blood as part of the standardization procedure, could distinguish between people with or…

Reata Pharmaceuticals’ omaveloxolone has won approval from the U.S. Food and Drug Administration (FDA) for treating Friedreich’s ataxia (FA), making it the first-ever therapy for this patient population. Now branded Skyclarys, the once-daily oral treatment is indicated for treating FA in adults and adolescents ages 16 and older.

Motion-capture suits can be combined with machine learning to predict how Friedreich’s ataxia (FA) will progress, a new proof-of-concept study shows. The technology may help to improve the efficiency of clinical trials in FA and other slowly progressing diseases, according to researchers. The study, “A wearable…

Assessing the levels of methylation — small chemical tags on specific DNA regions — in the FXN gene may help identify Friedreich’s ataxia (FA) carriers showing no disease symptoms, a study suggests. Making such a diagnosis is often “fraught with technical difficulties,” according to researchers, who sought “a reliable…