News

Researchers report that the analysis of the neurological changes occurring in patients with Friedrich’s Ataxia (FDRA) may serve as prediction factors of disease progression and be useful in the design of clinical trials to investigate future therapies. The findings suggest, namely, that clinical trials would benefit from recruitment of younger…

Researchers have created a cell model that will allow the study of molecular changes that result from the loss of the Friedreich’s ataxia (FA) protein frataxin at different time points in development. The model will likely advance knowledge into the molecular consequences of frataxin loss, and will allow both the identification…

Early results from Retrotope‘s Phase 1/2 clinical trial assessing RT001 as a potential treatment for Friedreich’s ataxia (FA) show that it has met it primary safety, tolerability and pharmacokinetics endpoints, the study’s lead investigator announced. The ongoing trial, titled “A First in Human Study of RT001 in Patients with Friedreich’s Ataxia” (NCT02445794),…

Several Australian institutions collaborated to evaluate the structural integrity of a major component of the central nervous system, cortical grey matter, in patients with Friedreich ataxia (FRDA). The scientists found structural abnormalities in several brain regions, primarily in the cortical motor system, which represents a step forward in understanding the disease.

Recent research suggests that correcting the frataxin deficiency in neurons derived from Friedrich’s ataxia (FA) patients may not only stop disease progression, it may also lead to clinical improvement by rescuing dysfunctional surviving neurons. The study, “Friedreich ataxia induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected…

Researchers report identifying two potential blood biomarkers of Friedreich’s ataxia disease progression and drug response that could be used, in addition to frataxin levels, as tools in future clinical trials of the disease. The study, “Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug…

Friedreich’s ataxia (FA) patients have elevated blood levels of a factor indicating increased collagen production, a finding that researchers could link to remodeling of heart tissue. These findings could help identify heart problems in FA patients, especially because heart conditions represent the typical cause of death in Friedreich’s ataxia. The study,…

A new study from the University of California reported several unknown neurobehavioral deficits observed in an animal model for Friedrich’s ataxia (FA) that can be used to assess the effect of potential drug therapies. The study, “Neurobehavioral deficits in the KIKO mouse model of Friedreich’s ataxia,” was…

The frataxin gene regulates iron storage in cells, but mutations in the gene are known to cause Friedreich’s ataxia (FA). A study now shows the mutation causes iron toxicity and the loss of nerve cells in fruit flies, an effect prevented when they were put on a low-iron diet. The…

Researchers at the College of Health & Life Sciences in London have identified a mechanism that may lead to neurodegeneration in Friedreich’s ataxia (FA) patients, and which could be a possible target for novel gene therapies. Their study, “Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and…