News

Design Therapeutics is on track to start clinical trials next year of its new and improved experimental treatment for Friedreich’s ataxia (FA), called DT-216P2. “Leading our portfolio of potential first- or best-in-class therapies is DT-216P2 for FA, a serious neurodegenerative disease with a significant need for new therapies,…

Diazoxide, a medication used to treat high blood pressure, protected cells — isolated from a person with Friedreich’s ataxia (FA) — against cellular damage caused by oxidative stress, suggesting it could be repurposed to treat the disease. Because diazoxide can’t make it to the brain, which is affected by…

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…

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…