News

Pfizer has published a study with potentially important implications for future therapeutic targets to treat Friedreich’s ataxia (FA). The study, titled “Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin,” was conducted through Pfizer’s Rare Disease Research…

A recent study links frataxin protein levels to disease features in patients with Friedreich’s ataxia (FA). The article, titled “Frataxin levels in peripheral tissue in Friedreich ataxia,” was published in Annals of Clinical and Translational Neurology journal. FA is a neurological disorder that progressively damages the nervous…

Researchers have long known that — due to a genetic mutation —  the levels of the protein frataxin are decreased in Friedreich’s ataxia. Because of the neurological nature of the disease, the effects of the mutation have mainly been studied in neurons within the central nervous system, and not much is known about…

New research indicates that a complete assessment of heart function can identify cardiomyopathy in most people with Friedreich’s ataxia (FA), and that electrocardiography, especially, shows early heart abnormalities. The work, titled “The cardiomyopathy in Friedreich’s ataxia — New biomarker for staging cardiac involvement,” appeared in the…

Researchers have shown that a potential new therapeutic target for patients with Friedreich’s ataxia (FA) could be a mutation that causes misfolding in specific proteins, which results in lowered protein concentrations. The study, led by senior scientists at the Department of Basic and Clinical Neuroscience, Maurice Wohl Institute, King’s…

In a new study entitled “Efficient attenuation of Friedreich’s ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA,” researchers suggest that the chemical compound deferiprone, a mitochondrial permeable iron chelator, is an effective drug to treat Friedreich’s ataxia-mediated cardiomyopathy by…

Retrotope recently announced a second clinical trial site, the Collaborative Neuroscience Network, LLC (CNS), has opened in Long Beach, California, as part of the company’s ongoing 28-day, first-in-human randomized, double-blind, controlled, ascending dose study of orally dosed experimental therapy RT001. The study will evaluate the safety, tolerability, pharmacokinetics (PK), disease state and exploratory endpoints in…

Recent research results indicate that targeting the TORC1 pathway could one day be a treatment for Friedreich’s ataxia (FA). The work, titled “TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich’s Ataxia,” was published in the online journal PLOS One. FA is a rare condition of…

A team of researchers have identified six new, highly specific compounds that hold promise of bringing “new perspectives” to the treatment of Friedreich’s ataxia (FA). The research, entitled “A Yeast/Drosophila Screen to Identify New Compounds Overcoming Frataxin Deficiency,” was published in Oxidative Medicine and Cellular Longevity. FA is a neuromuscular…

Treatment options for most hereditary ataxias are very scarce. Since 2014, drugs with known safety profiles have been tested in the treatment of hereditary ataxias such as Friedreich’s ataxia and spinocerebellar ataxia. A pilot study in patients with cerebellar ataxias of different causes has shown significant benefits upon riluzole treatment, a drug…