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Note: This story was updated Dec. 19, 2024, to clarify that the BOLD study does include measures of efficacy. Since its 2023 launch as the first and — to date — only approved treatment for Friedreich’s ataxia in the U.S., Skyclarys (omaveloxolone) has benefited most patients by either…

A genetic analysis of connective tissue cells from a woman with late-onset Friedreich’s ataxia (FA) and her younger sister, who did not have the disease, found differences in the activity levels of almost 400 genes in the affected sister, according to a recent study. Genes with the most altered…

Data from wearable sensors that are designed to collect real-world information about a person’s ability to function in daily life correlated well with standard clinical assessments of disease severity among people with Friedreich’s ataxia (FA), a study finds. These types of remote monitoring tools could help to better track…

A study of heart health with vatiquinone, an investigational oral Friedreich’s ataxia (FA) therapy, found no increased risk of cardiac problems in healthy adults, including when doses about 3.5 times above the therapeutic dose were evaluated, scientists reported. Blood levels of vatiquinone did not correlate with changes in…

In adults with Friedreich’s ataxia (FA), treatment with nomlabofusp may increase levels of frataxin protein to at least half of what’s typically seen in people who don’t have the disease, according to new analysis of clinical trial data. The analysis also predicted that use of the experimental therapy…

Key takeaways from the webinar include the complexity of the relationship between FA patients and caregivers, and the importance of practicing open communication and empathy and asking for help when necessary.

Male mouse models of Friedreich’s ataxia (FA) in a study showed worse heart function than females, with weaker heart pumping and a larger left ventricle, the heart’s main pumping chamber. The differences are relevant as these mice are widely used for preclinical testing of new treatments for the disease. Researchers…

Cardiomyopathy in people with Friedreich’s ataxia (FA) significantly associated with a shortening of chromosomal telomeres —  the “tips” of chromosomes — in immune cells, a study reported. Telomere length is known to decrease with age, and younger FA patients, up to around the mid-30s, had longer telomeres than…

PTC Therapeutics says it’s planning, this December, to ask the U.S. Food and Drug Administration (FDA) to approve its oral therapy vatiquinone — which has been tested in pediatric patients as well as adults — as a treatment for Friedreich’s ataxia (FA). “We look forward to submitting…

The U.S. Food and Drug Administration (FDA) has given rare pediatric disease designation to PPL-001, Papillon Therapeutics’ investigational cell therapy for Friedreich’s ataxia (FA). This status is granted to potential medicines or therapy approaches meant to treat serious or life-threatening diseases affecting fewer than 200,000 people in…