News

Nearly half of people with Friedreich’s ataxia (FA) in the U.K. have insufficient vitamin D levels, although these levels were not associated with measures of disease severity, a new analysis shows. In addition, nearly 30% of patients had vitamin D levels in the deficiency range, meaning their levels were…

In 2018, when Nell Choi was 9 years old, she began experiencing symptoms that led to hospitalization and a diagnosis of neuromyelitis optica spectrum disorder (NMOSD), type positive. A month later, when Nell came home, she was weak, in a wheelchair, and had lost 20 pounds. To…

Friedreich’s ataxia (FA) is characterized by defects in how cells regulate iron, which seem to differ by tissue and over time, according to a study using a new mouse model designed to better reflect the human disease. Specifically, animals showed an early buildup of iron in the brain and…

In adults with Friedreich’s ataxia (FA), a brain communication pathway connecting the cerebellum to the motor cortex, which coordinates and controls movement, showed signs of tissue shrinkage, disrupted brain signaling, and reduced energy production on MRI scans. According to the imaging study, FA-related changes across the so-called dentato-thalamo-cortical…

Following feedback from the U.S. Food and Drug Administration (FDA), Larimar Therapeutics is on track to soon submit an application seeking accelerated approval — which gets a drug to patients but still requires additional testing — of nomlabofusp, its protein replacement therapy for Friedreich’s ataxia (FA). Larimar recently…

Abnormal buildup of iron in mitochondria, the powerhouses of cells, may contribute to heart damage in Friedreich’s ataxia, according to a new study done in a mouse model. Data also indicate that heart cells have reduced ability to recycle damaged mitochondria in Friedreich’s ataxia. Collectively, the findings shed new…

Skyclarys (omaveloxolone) improved key measures of function and cellular health in nerve cells from the dorsal root ganglia, clusters of sensory nerve cells next to the spinal cord that are affected early in Friedreich’s ataxia (FA), according to a cell-based study. The researchers also found that combining low…

Scientists at the University of Oxford are embarking on five pioneering research projects — together backed by more than half a million dollars in funding — that aim to advance the discovery of new treatments for Friedreich’s ataxia (FA). The new projects are being funded by the Oxford-Harrington Rare…

Researchers have developed a new type of gene therapy that, according to the findings of a new study in animal models, may correct both nerve and heart problems in people with Friedreich’s ataxia (FA). The one-time treatment, administered via a spinal tap, was designed to simultaneously target the heart…

Sensors worn while walking at a natural pace can accurately distinguish people with Friedreich’s ataxia (FA) from those without the disease, according to a study. Data from these sensors also showed that FA patients with greater step-to-step variability and irregular trunk movements during walking had more severe disease. “Digital…