Steve Bryson, PhD,  science writer—

Abnormalities found in sensory nerve cells — cells that detect body position and movement — derived from people with Friedreich’s ataxia (FA) may help explain the loss of coordination seen in FA patients, according to a cell-based study. These sensory nerves were unable to fully extend nerve fibers toward…

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…

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…

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…

Repeat use of G-CSF stem cell therapy, an approved medicine, was safe in adults with Friedreich’s ataxia and associated with significant elevations in frataxin protein and disease-related biomarkers, a pilot study in the U.K. reported. Because interventions that increase frataxin and reverse the harmful effects of the protein’s deficiency are…

Levels of the protein frataxin, which are abnormally low in people with Friedreich’s ataxia (FA), are further reduced by excess iron and increased protein degradation, a study found. Screening approved compounds in a yeast model identified those that prevented this additional frataxin loss in cells isolated from a patient,…

Children and adolescents with Friedreich’s ataxia (FA) who have an enlarged heart were found to have a high prevalence of irregular heartbeats, and were more likely to have early progression to end-stage disease, according to a nationwide U.K. study. The age of onset and the characteristics of heart enlargement…

Increased sodium levels were found in regions of the brain commonly affected by Friedreich ataxia (FA) — the cerebellum and brainstem — before structural changes, an MRI imaging study has demonstrated for the first time. The findings showed that increased sodium in these regions was related to an earlier…

Compounds that blocked the activity of histone deacetylases — enzymes that suppress gene activity — increased the activity of the FXN gene, which is low in people with Friedreich’s ataxia (FA) and limits frataxin protein levels, a proof-of-concept study demonstrated. Researchers used nerve cells derived from FA patients to screen…

Reata Pharmaceuticals has completed a rolling submission of a new drug application (NDA) seeking approval in the U.S. for its investigational oral therapy omaveloxolone to treat Friedreich’s ataxia (FA). In a rolling submission, companies can submit individual sections of review applications to the U.S. Food and Drug…