News

The clinical benefits of stem cell therapy in Friedreich’s ataxia patients will be assessed in a small pilot study at the University of Bristol in the United Kingdom. Friedreich’s ataxia (FA) is a rare neurodegenerative disorder caused by mutations in the FXN gene, which contains instructions to produce frataxin, an essential…

Researchers have found that patients with Friedreich’s ataxia (FA) show progressive deterioration of auditory neural responses to ongoing acoustic stimulation. The study titled “Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia,” was published in the journal Clinical Neurophysiology. Patients with auditory neuropathy…

Retrotope has submitted the design of a pivotal clinical trial for its Friedreich’s ataxia therapy RT001 to the U.S. Food and Drug Administration. The submission was prompted by results of a Phase 1/2 trial showing that the therapy was safe and exhibited early signs of effectiveness — an ability to improve patients’ physical functioning. A…

Researchers found that patients with Friedreich’s ataxia (FA) show a gradual reduction in low-contrast visual acuity over time. This decline is more pronounced in those with higher numbers of GAA repeats, a hallmark in FA, and could be a biomarker for future studies. The study, “Longitudinal analysis of low-contrast…

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Results from a Phase 1/2 clinical study support the safety and tolerability of RT001, an investigational therapy for Friedreich’s ataxia. Patients treated with RT001 also were seen to improve in physical functioning tests. The study, “Randomized, clinical trial of RT001: Early signals of efficacy in Friedreich’s ataxia,” was published…

Researchers found that the use of mobility devices is associated with a poorer quality of life in children with Friedreich’s ataxia (FA). The study, “Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia,” was published in the Journal of Child Neurology. Friedreich’s ataxia is a…

Inhibitors of p38 — a protein involved in regulating cell growth — show potential for use as therapeutic agents in the treatment of Friedreich’s ataxia (FA), a recent study suggests. The study, “Identification of p38 MAPK as a novel therapeutic target for Friedreich’s ataxia,” was published in the journal…

Researchers report that genetic tests for Friedreich’s ataxia (FA) are complex and may require additional screening in cases of typical clinical presentation. The study, “Pitfalls in molecular diagnosis of Friedreich ataxia,” was published in the European Journal of Medical Genetics. Friedreich’s ataxia is caused by mutations in the…

Using human cells, researchers have found that targeting the MLH3 protein involved in DNA repair can reduce the GAA repeat expansion that causes Friedreich’s ataxia. This finding adds new knowledge about the mechanisms involved in Friedreich’s ataxia, but it also may lead to new development of disease-modifying therapies. The finding…