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Some molecules involved in metabolism — all daily operations run by cells — are found in different amounts in patients with Friedreich’s ataxia (FA) versus healthy individuals and may be used as both diagnostic biomarkers and therapeutic targets, a small study suggests. The study, “Metabolomics analysis reveals dysregulation…

DNA repeats in the gene that codes for frataxin — a protein that’s not made enough in Friedreich’s ataxia — act as a molecular “stop sign” that results in no working protein being made, a study in lab-grown cells found. Researchers were able to offset the “stop sign” and…

Mutations that cause Friedreich’s ataxia lead to abnormalities in how nerve fibers grow and reduce their ability to repair themselves, according to a study done in mouse cells. These differences may contribute to nerve cell degeneration that is characteristic of the disease, researchers say. The study, “Frataxin…

Note: This story was updated July 13, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world.

A combination of the antioxidant resveratrol and the multiple sclerosis treatment dimethyl fumarate (DMF) increased the activity of the FXN gene — whose mutation causes Friedreich’s ataxia — in cell and mouse models of the disease, a study showed. Using resveratrol and DMF together also led to improved…

Both clinical severity and frataxin protein levels correlate with the number of disease-causing trinucleotide repeats in the FXN gene of people with Friedreich’s ataxia (FA), with more repeats linked to worse disease. But FA symptoms appear to plateau with anything greater than 700 repeats — after which both clinical…

Children and adults with Friedreich’s ataxia (FA) have lower lean body mass — simply put, the weight of everything in the body except fat — than healthy individuals of about the same age, a study found. Using mice, researchers showed that this loss of lean body mass occurred…

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…

The U.S. Food and Drug Administration (FDA) has granted priority review to Reata Pharmaceuticals’ omaveloxolone, an investigational once-daily oral therapy for Friedreich’s ataxia. If approved, omaveloxolone would become the first therapy available for the treatment of the disease in the U.S. The decision comes following the company rounding…