News

Vatiquinone found to slow FA progression by 75% after 1.5 years

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 test may help diagnose atypical FA

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…

Gene abnormality in FA muscle cells is a ‘double hit’: Study

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…