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…
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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…
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Retrotope Announces Second Clinical Trial Site For Friedreich’s Ataxia Study Open for Enrollment
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…
In a recent study, entitled “Stable isotopes and LC–MS for monitoring metabolic disturbances in Friedreich’s ataxia platelets” and published in the journal Bioanalysis, U.S. researchers show that platelets from Friedreich’s ataxia patients can be used as a biomarker of the disease and as a tool to investigate…
A recent study from researchers based in France described a new experimental system that can be used to identify drugs to treat Friedreich’s ataxia (FA). The research report, titled “A Yeast/Drosophila Screen to Identify New Compounds Overcoming Frataxin Deficiency,” appeared in the journal Oxidative Medicine and…
Friedreich ataxia is an inherited neurodegenerative disease characterized by a progressive impairment of gait movements and sensory functions and an early age onset (< 25 years). This disease is caused by a mutation on the FXN gene (hyper-expansion of GAA trinucleotide repeats) leading to the lack of frataxin, a mitochondrial…
In a recent study entitled “FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia” a team of researchers reported that the mechanisms leading to silencing of the FXN gene, the underlying cause of Friedreich ataxia (FA), is not confined to tissues and cells reported to be affected…
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