A new assay to measure levels of the frataxin protein in blood could be used to assess the effectiveness of treatments in early clinical trials. The researchers showed that measuring frataxin with this method, which uses pig blood as part of the standardization procedure, could distinguish between people with or…
Reata Pharmaceuticals’ omaveloxolone has won approval from the U.S. Food and Drug Administration (FDA) for treating Friedreich’s ataxia (FA), making it the first-ever therapy for this patient population. Now branded Skyclarys, the once-daily oral treatment is indicated for treating FA in adults and adolescents ages 16 and older.
Motion-capture suits can be combined with machine learning to predict how Friedreich’s ataxia (FA) will progress, a new proof-of-concept study shows. The technology may help to improve the efficiency of clinical trials in FA and other slowly progressing diseases, according to researchers. The study, “A wearable…
Assessing the levels of methylation — small chemical tags on specific DNA regions — in the FXN gene may help identify Friedreich’s ataxia (FA) carriers showing no disease symptoms, a study suggests. Making such a diagnosis is often “fraught with technical difficulties,” according to researchers, who sought “a reliable…
Abnormalities in the light-sensing cells of the eyes are detectable in carriers of Friedreich’s ataxia (FA), but do not appear to affect parts of the pathways that are essential for vision so carriers do not experience visual impairment. That’s according to a study, “Retinal and Visual…
Objective measures of eye movement abnormalities are associated with measures of disease severity in Friedriech’s ataxia (FA) and other hereditary ataxias, a new study reports. “We have shown that characteristic oculomotor [eye movement] abnormalities can be quantified by the use of eye movement recordings in hereditary ataxias, and that…
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…
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