News

In Friedreich’s ataxia, neurodegeneration related to dysfunctional iron metabolism has been described in the cerebellum – a brain region crucial for movement coordination. A new study, however, shows that disturbed iron metabolism with resulting tissue damage is far more widespread, and may serve as a biomarker of disease progression or…

A recent study describes a case of ataxia with isolated vitamin E deficiency (AVED) that was initially misdiagnosed as Friedreich’s ataxia, delaying proper treatment. The study was published in the journal Case Reports in Neurological Medicine. AVED is a rare genetic disease characterized by progressive cerebellar ataxia, dorsal column signs, and pyramidal deficits on examination. Clinically,…

In the largest clinical trial to date, researchers observed that treatment of the alpha form of erythropoietin protein did not benefit Friedreich’s ataxia (FA) patients. The study, “Long-Term Effect of Epoetin Alfa on Clinical and Biochemical Markers in Friedreich Ataxia,” was published in the…

The direct and indirect annual costs of care for Friedreich’s ataxia (FA) can be as high as £11,000 to £19,000 per person, according to a study titled “Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany,” published in BioMed Central’s open access journal…

Scientists believe that delivery of functional frataxin mRNA via RNA transcript therapy (RTT) can become a potential therapy for Friedreich’s ataxia patients. The study, “Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich’s ataxia,” was published in the journal Scientific Reports. Friedreich’s…

Mutations in the FXN gene — responsible for Friedreich’s ataxia (FA) — mainly come in the form of repeats of three DNA bases, GAA, at the start of the gene. Cases where one gene copy holds a repeat mutation and the other copy contains another kind of mutation account for only 2 percent to 4 percent…

Agilis Biotherapeutics, LLC, and Waisman Biomanufacturing have signed an exclusive partnership agreement to develop and produce AGIL-FA, Agilis’ potential gene therapy for the treatment of Friedreich’s ataxia (FA). Agilis, a biotechnology company specializing in therapies for rare genetic diseases that affect the central nervous system (CNS), and Waisman, a nonprofit gene…

University of Texas (UT) Southwestern Medical Center researchers have identified RNA and DNA synthetic agents that increase frataxin levels and alleviate Friedreich’s ataxia (FA), suggesting that synthetic nucleic acids that target the specific disease-causing mutation can be lead compounds for FA therapy. The research paper, “Activating frataxin expression by repeat-targeted nucleic acids,”…

Retrotope announced the completion of a first dosing cohort, and the opening of patient enrollment for a highest dose cohort, in its ongoing, 28-day clinical study of orally dosed RT001 in Friedreich’s ataxia (FA) patients. The treatment to date has been well-tolerated, with no serious adverse effects or dose limiting toxicities, the pharmaceutical company reported. “We…

The Illinois Biotechnology Industry Organization (iBIO) recently announced that Kyle Bryant, founder and director of Ride Ataxia, Friedreich’s Ataxia Research Alliance, will be one of the keynote speakers for the 2016 iBIO Industry Exposition (iBIO, IndEx) at the Hilton Orrington in Evanston, Illinois, April 19-20. The meeting, whose theme is “Converge to…