José Lopes, PhD,  managing science editor—

Normalizing the cardiac levels of frataxin via gene therapy or an alternative strategy could be an effective treatment for cardiac symptoms in patients with Friedreich’s ataxia (FA), as suggested by three-dimensional (3D) heart tissues made in the lab, a study suggests. The study, “Correlation between frataxin…

Biomarkers for Friedreich’s ataxia (FA) may come from measurements of frataxin (FXN) levels in red blood cells and energy production in calf cells, imaging approaches in the nervous system and the heart, as well as markers of nerve cell damage, according to a review of ongoing work. The research,…

Despite some benefits seen in clinical measures like cardiac health and reports by Friedreich’s ataxia (FA) patients of lesser fatigue and better function upon treatment with idebenone in clinical trials, a new two-month study found little difference between those given the therapy and those on placebo. The study, “…

Adding a molecule that specifically binds iron in mitochondria to sun creams could help protect the skin cells of Friedreich’s ataxia (FA) patients from their increased sensitivity to damage caused by ultraviolet A (UVA) radiation. Besides FA patients, this discovery might benefit people living with other disorders also characterized…

A 12-week treatment with the investigational therapy omaveloxolone improved neurological function, and was safe and well-tolerated by Friedreich’s ataxia (FA) patients in a Phase 2 clinical trial. The study, “Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia,” was published in the journal…

Increasing the amount of a protein called GRP75 repairs the characteristic Friedreich’s ataxia (FA) frataxin deficiency and mitochondrial alterations, according to a study in patient-derived and mouse cells. The study, “GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models,” was published in the…

A gene therapy approach to increase the amount of the critical frataxin protein shows that correcting only half of the heart muscle cells, or cardiomyocytes, is enough to fully restore the cardiac function in a mouse model of Friedreich’s Ataxia (FA) The study, “Correction of half…

Central nervous system (CNS) damage in Friedreich’s ataxia (FA) starts in the spinal cord and specific brain areas in children, progressing to more widespread white and grey matter injury in adults, according to a new imaging study. The findings could lead to biomarkers for future studies and indicate that…

Pharmacological screening in a fly cardiac model of Friedreich’s ataxia (FA) identified 11 potentially protective compounds. The two most promising are the anti-inflammatory Azulfidine (sulfasalazine)  and the antidepressant Luvox (fluvoxamine), according to the researchers. The study “Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model…

A new case report describes a 7-year-old boy with Friedreich’s ataxia (FA) who has a particularly early age of disease onset and an extremely rare type of mutation in the FXN gene, which led to unsteady gait, tremor, and spine curvature, among other manifestations. The study, “…