In 2007, 8-year-old Isabel Maugee began having gait problems while playing soccer. Caroline Maugee and her husband, Eric, thought their daughter had knock knees. A year later, the couple was shocked when Isabel and her twin brother, Christian, were diagnosed with a disease they had never heard of —…
News
Leriglitazone, an oral therapy being investigated as a Friedreich’s ataxia (FA) treatment, extends nerve cell survival, improves mitochondrial function, helps balance iron levels, and prevents ferroptosis (a type of iron-dependent cell death), a cell-based study showed. Data also showed that combining leriglitazone with lower doses of the approved…
A combination of insulin, diabetes medications, and supplements that help cells produce energy lowered blood sugar and eased neurological symptoms for a woman with Friedreich’s ataxia and diabetes, according to a case report from India. Researchers said the case was “the first reported instance of concurrent long-term [blood sugar]…
Functional assessments, such as a test of how far an individual can walk in one minute, may be useful for tracking disease progression in children with Friedreich’s ataxia (FA), a study reports. “Our study overall emphasizes the importance of integrating a range of outcome assessments tailored to the specific…
The investigational therapy nomlabofusp increased the levels of frataxin, the protein deficient in people with Friedreich’s ataxia (FA), in several tissues of animal models, and improved heart function and survival in an FA mouse model, a study showed. The findings are consistent with benefits of the Larimar…
Four years of daily treatment with Skyclarys (omaveloxolone) continues to slow the progression of Friedreich’s ataxia (FA) compared to what would be expected in patients without treatment. That’s according to new data from the extension study of the Phase 2 MOXIe clinical trial (NCT02255435), which also showed…
Bill Nye is back in the lab, with the host of the popular 1990s science education TV show “Bill Nye the Science Guy” now starring in a National Ataxia Foundation (NAF) campaign focused on raising awareness and understanding of Friedreich’s ataxia (FA). FA is a rare, inherited, and progressive disorder. It…
Daily use of the experimental therapy nomlabofusp is leading to long-term clinical improvements and increases in frataxin levels for people with Friedreich’s ataxia (FA) relative to what would be expected in the absence of treatment. That’s according to new data from an ongoing open-label extension study (NCT06447025)…
International Ataxia Awareness Day is coming up this Thursday, and organizations around the world are getting ready for this annual daylong opportunity to shine a light on what it’s really like to live with Friedreich’s ataxia (FA) and other ataxia types. “September 25, International Ataxia Awareness Day, is an…
Supplementation with alpha-lipoic acid (ALA), a naturally occurring antioxidant, boosts the production of frataxin, the protein that’s deficient in people with Friedreich’s ataxia (FA), according to a cell-based study. Alpha-lipoic acid reversed many cellular features of FA, including dysfunction of energy-producing mitochondria, impaired iron metabolism, and oxidative stress, a…
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