Higher than normal activation of the mTOR and AKT signaling pathways — both key to proper cardiovascular function — may underlie the heart disease called cardiomyopathy that is common in people with Friedreich’s ataxia (FA), according to a new study using a mouse model of FA. When the mice…
The Friedreich’s ataxia community wants to get people talking about ataxia — a group of disorders that affect co-ordination, balance, and speech — for this year’s International Ataxia Awareness Day (IAAD), which takes place on Sept. 25. “A great way to spread awareness is to encourage people to…
A substantial knowledge gap still exists about the prevalence of Friedreich’s ataxia (FA) around the world, as well as its impact on the quality of life of patients and caregivers, and care costs, a review study has found. Nevertheless, the limited available data point to physical impairment as the…
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…
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…
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