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A group of researchers compiled a database of small RNAs that circulate in the blood of Friedreich’s ataxia (FA) patients with different disease symptoms. Researchers hope this resource will assist research into FA’s mechanisms and possibly identify biomarkers of disease progression and patients’ response to treatment. The study,…

Novoheart, in partnership with Pfizer, has created new models of cardiac dysfunction in Friedreich’s ataxia (FA) using human stem cells as the basis, the company announced. These models are part of the company’s MyHeart platform, an approach that aims to capture the major clinical symptoms of FA. “We…

People with Friedreich’s ataxia (FA) in South Brazil exhibited clinical symptoms similar to patients in Europe, although FA has a much lower prevalence in Brazil, according to researchers. Their study, “Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil,” was published in the journal The Cerebellum.

People with Friedreich’s ataxia (FA) have alterations in the connectivity of different brain regions, which most likely is associated with the disease’s neurological symptoms. Researchers used magnetic resonance imaging (MRI) to analyze the brains of patients…

A therapy already approved to treat cancer could potentially be used to prevent heart abnormalities in Friedreich’s ataxia patients, according to a study that used a fruit fly model of the disease. The study, “Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a…

Painful muscle spasms in a patient with Friedreich’s ataxia (FA) were managed by administering baclofen in the spinal canal, a case study reports. The study was published in the journal Stereotactic and Functional Neurosurgery. About 11-15% of patients with Friedreich’s ataxia experience painful muscle spasms or muscle contractions, but little…

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

A gene therapy approach to deliver frataxin, the protein that’s deficient in Friedreich’s ataxia (FA) patients, was able to reverse disease-related changes in a new mouse model of the disease, a French study reports. The study, “Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy…

As therapies for Friedreich’s ataxia seek to increase the amount of frataxin, whose shortage underlies the disease, scientists conducting an in vitro study warn that levels of the protein must be tightly regulated because overproduction may result in detrimental effects. The study, “Adding a temporal dimension to the…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…