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Researchers have developed and characterized mouse models of Friedreich’s ataxia (FA) carrying a rare disease-causing mutation, a study reports. The rare FXN gene mutation, dubbed G130V, is found in some FA patients alongside the common gene expansion defects seen in most cases. These patients experience less severe symptoms and…

Among people with Friedreich’s ataxia, thinner layers of nerve cells at the retina — the light-sensing cells located at the back of the eye — are associated with more severe disease and lower frataxin protein levels, a study reported. Results suggest that measuring the thickness of these retinal nerves…

Nerve and heart muscle cells derived from a man with Friedreich’s ataxia (FA) showed differences in the activity of multiple genes, a study reported. In nerve cells, deficiency in the frataxin protein, the underlying cause of FA, influenced genes related to energy-producing glucose metabolism, or glycolysis. In heart…

Prime Medicine’s gene-editing technology — called Prime Editing — successfully corrected the genetic deficits associated with Friedreich’s ataxia (FA) and restored nerve cell projections in preclinical studies using patient cells, the company has announced. The company also announced positive updates from a number of its 18 other developmental programs…

Researchers have developed statistical models to help predict the progression of Friedreich’s ataxia using data such as age at disease onset and genetic information. Although the models are not yet accurate enough to be employed in clinical use, the researchers said this is a first step toward individualized medicine…

People with Friedreich’s ataxia show marked abnormalities in the structure of the upper spinal cord, some of which are correlated with measures of disease duration and severity, a study reports. “These results provide new insights about [the development of Friedreich’s ataxia] and indicate that spinal cord MRI may be…

The investigational therapy DT-216 safely worked to more than double the activity of the FXN gene — involved in energy production in cells — in people with Friedreich’s ataxia (FA). That’s according to new data from a single-ascending dose (SAD) Phase 1 clinical trial, which showed the treatment candidate was…

A $4.8 million grant from the California Institute for Regenerative Medicine (CIRM) will support a research project hoping to move a one-time gene editing treatment for Friedreich’s ataxia closer to clinical trials. “If successful, this approach could prevent the neurologic and cardiac complications in [Friedreich’s ataxia] and address the pressing…

People with Friedreich’s ataxia (FA) who also have diabetes, a condition that causes their blood glucose (sugar) level to become too high, are more likely than those who don’t have diabetes to have worse outcomes from COVID-19, according to a single-center study. Having diabetes increased both the chance of…

Low levels of the frataxin protein — the underlying cause of Friedreich’s ataxia (FA) — and the ensuing problems in mitochondria, the cells’ powerhouses, may activate certain immune responses in the disease, a study suggests. In lab-grown human heart, muscle precursor, and connective tissue cells, suppressing frataxin production was…