News

Seven microRNAs that circulate in the blood may serve as biomarkers that help clinicians to diagnose Friedreich’s ataxia, according to results of a recent study. High levels of one of these molecules, called miR-323-3p, also has the potential to identify those patients with disease-associated cardiomyopathy (heart failure), the researchers report. Their study,…

Australian researchers have successfully turned stem cells from Friedreich’s ataxia (FA) patients into heart cells to study molecular anomalies that may contribute to this disease. These “heart cells in a dish” provide valuable information for the design of novel treatments. Their study, “Friedreich’s ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological…

An abnormal increase in protein acetylation leads to heart disease in Friedreich’s ataxia (FA) patients and may represent a new therapeutic target for early intervention, a study finds. The study “Progressive mitochondrial protein lysine acetylation and heart failure in a model of Friedreich’s ataxia cardiomyopathy,” appeared in Plos One. The authors found a close…

Friedreich’s ataxia (FRDA) patients have less mitochondria than other people because of the mutation in the frataxin (FXN) gene that is associated with the disorder, according to two studies. University of California at Davis researchers also said that a multiple sclerosis therapy the United States and Europe have already approved…

Researchers detected alterations in cerebral brain functions of patients with Friedreich’s ataxia and believe they may mitigate the impact of motor impairments of the disease. The study, “Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study,” was published in the journal Movements Disorders. Friedreich’s ataxia (FA), the most common inherited ataxia is characterized by motor…

Omaveloxolone, a drug developed by Reata Pharmaceuticals, may slow disease progression and promote the recovery of lost neurological function in patients with Friedreich’s ataxia (FA). The encouraging results come from the first of the two-part MOXIe Phase 2 trial (NCT02255435) that is evaluating the drug’s efficacy and…

People with late-onset Friedreich’s ataxia have similar, but not identical, abnormalities of brain structures as those who become ill at an earlier age, researchers recently demonstrated. The study sheds light on why the features of the disease differ in people with early and late onset. Researchers also argued that their…

Pfizer is seeking a European patent on a family of compounds that can treat Friedreich’s ataxia by increasing levels of the frataxin protein that is lacking in the disease. It noted in its patent application that Resverlogix has already developed a therapy called apabetalone (RVX-208) that is based on the compounds.

The Friedreich’s Ataxia Research Alliance (FARA) and the UPenn Center for Orphan Disease Research are sponsoring fundraising events May 20 to mark Friedreich’s Ataxia Awareness Day — an annual celebration to call attention to the rare, debilitating and often life-shortening degenerative neuromuscular disorder. Since its formation in 1998, FARA, a national, public,…

As a kid growing up in Seattle, Sam Bridgman lived and dreamed sports. An avid Seahawks fan, he loved football, baseball, hockey, soccer, skiing and boxing. In fact, world heavyweight champion Muhammad Ali was his idol, and “Impossible is Nothing” his mantra. But in 2006, Bridgman learned he had Friedreich’s…