News

People with Friedreich’s ataxia (FA) may have elevated blood levels of cardiac troponin I and T, markers of heart damage, without signs of heart dysfunction, a study suggests. Being younger, female, or having a higher number of GAA repeats, the main type of FA-causing mutation, was associated with higher…

Inhibiting ferroptosis, a type of iron-dependent cell death, could be a promising therapeutic strategy for heart disease management in people with Friedreich’s ataxia, a study found. Through a series of experiments, scientists found that mice lacking a protein called SIRT3 in heart cells showed cellular properties similar to what’s…

The nonprofit Critical Path Institute (C-Path) and the Friedreich’s Ataxia Research Alliance (FARA) are partnering to bolster the library of data from people with Friedreich’s ataxia (FA) and make it more accessible for researchers to develop new treatments. The effort will involve integrating additional FA datasets into C-Path’s…

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…

A low dose of calcitriol, an activated form of vitamin D used to help manage hypoparathyroidism and other disorders, led to statistically significant increases in frataxin protein levels among people with Friedreich’s ataxia in a small clinical trial conducted in Spain. Although patients in the yearlong study did…

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…

The U.S. Food and Drug Administration (FDA) has selected nomlabofusp, an investigational treatment for Friedreich’s ataxia (FA), to participate in the Support for Clinical Trials Advancing Rare Disease Therapeutics (START) pilot program. Launched by the FDA in September 2023, the milestone-driven program seeks to accelerate the development of…

The U.S. Food and Drug Administration (FDA) has removed the partial hold on the clinical development of nomlabofusp, an experimental treatment for Friedreich’s ataxia (FA). The decision followed a review of data from a Phase 2 dose exploration trial (NCT05579691), which showed the treatment was well tolerated…

Thanks to a philanthropic donation of up to £650,000 (about $825,000), the Oxford-Harrington Rare Disease Centre (OHC) is offering two new grant programs to support the development of treatments for Friedreich’s ataxia (FA). The new awards, dubbed The FA Alliance Catalyst Fund and The FA Alliance Innovation Fund,…

Friedreich’s ataxia (FA) patients with less common types of disease-causing mutations in the FXN gene may have a distinct clinical presentation from patients with a more standard genetic profile, research suggests. A certain group of these mutations associated with higher production of frataxin — the protein lacking in FA — were…