The severity of the frataxin mutation, which causes Friedreich’s ataxia (FA), is the main factor determining the speed of the disease’s progression, next to age — a finding that may improve the design of future clinical trials for Friedreich’s ataxia therapies, researchers found. The study, “Progression of Friedreich ataxia:…
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The Friedreich’s Ataxia Center of Excellence at The Children’s Hospital of Philadelphia is presenting a one-day annual symposium on Friedreich’s ataxia (FA) Monday, Oct. 17, in King of Prussia, Pennsylvania. The ninth annual meeting demonstrates the ongoing outreach of the Friedreich’s Ataxia Research Alliance (FARA) to the FA community nationwide and an…
Patients with Friedreich’s ataxia (FA) show notable mental health stability despite physical decline compared to patients with other neurodegenerative disorders. These findings are reported in a three-year longitudinal study of FA patients, using self-reporting questionnaire scales. In the study, “A longitudinal study of the SF-36 version 2 in Friedreich ataxia,” published…
Antioxidants do not seem to improve neurological symptoms in Friedreich’s Ataxia according to a literature review conducted by a team of international scientists and published in Cochrane Database of Systematic Reviews.
Researchers from Turkey described the case of a large family, several members of which had Friedreich’s Ataxia with atypical features.
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…
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Potential Friedreich’s Ataxia Treatment, RT001, Shows Safety and Tolerability in Clinical Trial
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…
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