News

People with Friedreich’s ataxia (FA), regardless of age, have a thinner layer of nerve cells in the eye’s retina compared with unaffected individuals, a study involving almost 200 patients found. Such thinning, which correlated with neurological disease severity and vision loss, continued to increase over time. Researchers believe retinal…

In-depth monitoring and prompt treatment enabled a man with Friedreich’s ataxia (FA) to successfully undergo a thyroidectomy — thyroid gland removal surgery — despite active symptoms of a life-threatening “thyroid storm” during the procedure, according a recent case report. A thyroid storm is a medical emergency that arises when…

A first group of patients has been treated with LX2006, an investigational gene therapy for heart disease in people with Friedreich’s ataxia (FA), in a Phase 1/2 clinical trial and dosing has begun in a second group. LX2006 has been well tolerated and not associated with unexpected…

Continuous exposure to low levels of oxygen, or hypoxia, prevented or rapidly reversed motor symptoms in a mouse model of Friedreich’s ataxia, a study suggested. While a continuous mild hypoxia regimen also slowed the onset of motor symptoms, it didn’t reverse motor impairment. Intermittent hypoxia had a detrimental effect…

Disruptions to the DNA replication process during cell division may cause the expansion of FXN mutations that underlie Friedreich’s ataxia (FA), according to a recent study. Researchers have developed a new system to study the growth of these mutations — called GAA repeats — in human cells. They found that…

After nearly 1.5 years of treatment, vatiquinone (PTC-743) was found to slow disease progression by 75% in children and adults with Friedreich’s ataxia (FA), according to top-line MOVE-FA trial data. In key secondary measures, PTC Therapeutics‘ oral therapy candidate for FA also demonstrated significant benefits among patients…

Short-read genome sequencing (SR-GS), a test that can identify difficult-to-detect mutations, may help to correctly diagnose atypical Friedreich’s ataxia (FA) in people whose symptoms and family history are not indicative of FA, a study in Germany shows. The study, “Short-read genome sequencing allows ‘en route’ diagnosis of patients…

CTI-1601, an experimental therapy by Larimar Therapeutics, is generally well tolerated by people with Friedreich’s ataxia (FA) and increases the levels of frataxin, a protein they’re missing, in their skin and mouth (buccal) cells after two weeks. That’s according to top-line data from the first group of patients…

A naturally occurring molecule known as adenosine was found to improve the mitochondrial function in cells called fibroblasts from a Friedreich’s ataxia (FA) patient. Mitochondria are structures often dubbed the powerhouses of the cell, as they play an essential role in producing energy. Mitochondrial dysfunction is a hallmark of…

May is Friedreich’s Ataxia (FA) Awareness Month, and advocates and patient organizations have slated several initiatives — including weekly webinars — to focus attention on the rare disease and ongoing research aimed at its cure. Leading these efforts is the Friedrich’s Ataxia Research Alliance (FARA), which will mark…