News

Gene therapy safely reversed heart problems, lowered blood markers for heart muscle damage, and extended survival in a mouse model of severe Friedreich’s ataxia (FA), a new study shows. The findings further support the development of gene therapy for FA patients with severe heart…

Diabetes, heart rhythm problems, and neurological disability were found to be the clinical factors most likely to influence life expectancy in people with Friedreich’s ataxia (FA) in a recent European registry study. Scientists used the information to generate a model, which also included left ventricle dysfunction, that doctors might…

People in the Friedreich’s ataxia (FA) community await the possibility of gene therapies for their disease, with many saying they would participate in gene therapy trials regardless of the potential for side effects or other consequences. Around half of the survey’s 137 respondents expected that such treatment — delivering…

A deficiency in the frataxin protein, which is the underlying cause of Friedreich’s ataxia (FA), alters a process in a large protein structure in mitochondria critical for energy production, a cell-based study suggests. Specifically, this deficiency affects the formation of iron-sulfur clusters — which are specialized molecules needed for…

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.

Friedreich’s Ataxia News consistently covered the latest in scientific research, treatment development, and clinical studies for Friedreich’s ataxia (FA) throughout 2023. Here are the top 10 most widely read stories of last year: No. 10 – Dosing starts in 2nd patient group in trial of gene therapy candidate…

The Committee for Medicinal Products for Human Use (CHMP) — an arm of the European Medicines Agency — is recommending the approval of Skyclarys (omaveloxolone) for treating Friedreich’s ataxia (FA) in people ages 16 and older in the European Union. The European Commission now will review the CHMP’s…

A yet unreported mutation that involves the loss of a large piece of the FXN gene, which is linked to Friedreich’s ataxia (FA), was identified in a man with typical symptoms of the disease, according to a report from Spain. “With this case, we want to raise awareness about…

Microglia, the brain’s resident immune cells, may go awry in Friedreich’s ataxia (FA) and contribute to lasting inflammation in the brain, possibly playing a part in nerve cell degeneration, according to a new study in a mouse model of the disease. “This work is the first to provide multilayer…

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.