Some proteins in the cerebrospinal fluid (CSF) — the fluid that flows around the brain and spinal cord — are present in unusual amounts in patients with Friedreich’s ataxia, and may be candidate biomarkers for diagnosis, a small study suggests. Researchers found that the proteins are involved in how…
Disease progression can vary significantly among people with Friedreich’s ataxia (FA) — even when patients are grouped by disease severity — a multicenter natural history study reported. Further, changes in symptom worsening may be smaller in older patients with the inherited, progressive disease. These findings, and others from the…
Skin cells of people with Friedreich’s ataxia (FA) show dysregulated levels of fat molecules, including abnormal levels of a class of fats called ceramides that are important for maintaining cellular membranes, a new study shows. Moreover, the researchers noted that impairments in fat molecules known as lipids “predicted the…
Note: This story was updated on Aug. 10, 2022, to add the U.S. Food and Drug Administration has extended its review of the omaveloxolone application through the end of February. Following a meeting with the agency, Reata Pharmaceuticals has submitted new data to the U.S. Food and Drug Administration…
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…
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