News

After nearly 1.5 years of treatment, vatiquinone (PTC-743) was found to slow disease progression by 75% in children and adults with Friedreich’s ataxia (FA), according to top-line MOVE-FA trial data. In key secondary measures, PTC Therapeutics‘ oral therapy candidate for FA also demonstrated significant benefits among patients…

Short-read genome sequencing (SR-GS), a test that can identify difficult-to-detect mutations, may help to correctly diagnose atypical Friedreich’s ataxia (FA) in people whose symptoms and family history are not indicative of FA, a study in Germany shows. The study, “Short-read genome sequencing allows ‘en route’ diagnosis of patients…

CTI-1601, an experimental therapy by Larimar Therapeutics, is generally well tolerated by people with Friedreich’s ataxia (FA) and increases the levels of frataxin, a protein they’re missing, in their skin and mouth (buccal) cells after two weeks. That’s according to top-line data from the first group of patients…

A naturally occurring molecule known as adenosine was found to improve the mitochondrial function in cells called fibroblasts from a Friedreich’s ataxia (FA) patient. Mitochondria are structures often dubbed the powerhouses of the cell, as they play an essential role in producing energy. Mitochondrial dysfunction is a hallmark of…

May is Friedreich’s Ataxia (FA) Awareness Month, and advocates and patient organizations have slated several initiatives — including weekly webinars — to focus attention on the rare disease and ongoing research aimed at its cure. Leading these efforts is the Friedrich’s Ataxia Research Alliance (FARA), which will mark…

Measuring abnormalities in the neurological circuits the brain uses to make sense of sound could be a useful way to track the severity of Friedreich’s ataxia in people with the disease as well as in laboratory models, a new study reports. The study, “Auditory neuropathy in…

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…