Patricia Inácio, PhD,  science writer—

Boosting the breakdown of fat promoted higher levels of frataxin, the deficiency of which is a hallmark of Friedreich’s ataxia, and reduced the risk of diabetes in a mouse model of the disease. The study, “Interplay of…

Increasing the levels of a protein known as TSPO in glial cells — which provide nutrients to nerve cells and help with their communication — extended survival and improved mobility in a fruit fly model of Friedreich’s ataxia (FA). These preclinical findings suggest that “TSPO might be a relevant therapeutic target for this…

Levels of iron in the blood, along with iron stored in the liver and spleen, are significantly lower in adults with Friedreich’s ataxia (FA) relative to healthy adults, and the more severe the FA-causing mutation, the lower the iron in blood and organs, a study shows. The findings highlight…

Thickening of the heart muscle, although rare, may be the first manifestation of Friedreich’s ataxia (FA) in children, according to a new study. These findings suggest genetic testing to confirm the FA diagnosis should be considered in children with unexplained hypertrophic cardiomyopathy, when the walls of the left…

Stealth Biotherapeutics’ investigational therapy SBT-589 showed protective effects against cell energy deficits and heart muscle disease across several preclinical models of Friedreich’s ataxia (FA), including a mouse model of pronounced heart disease, according to new laboratory data. SBT-589 is designed to boost the activity of mitochondria — known…

Levels of the frataxin protein in the blood correlate with disease progression and disability status in Friedreich’s ataxia (FA) patients, a study reports. The findings suggest a technique called triple quadrupole mass spectrometry could help assess the effectiveness of treatments in clinical trials.

An intensive and multidisciplinary rehabilitation program eased symptoms of ataxia — lack of coordination and muscle control — and improved motor function in adults and children with Friedreich’s ataxia (FA), a study reported. The sweeping program offered physiotherapy, occupational therapy, manual activities, psychological support, speech therapy, and clinical psychology.

An observational study in Europe is using a mobile health app to better understand how Friedreich’s ataxia (FA) affects patients’ health-related quality of life, as well as their economic and psychosocial well-being, in real time. Called PROFA, the study is taking place across six centers in Germany, Austria, and…

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…

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…