News

Synthetic molecules targeting the hallmark gene mutation in Friedreich’s ataxia (FA) were able to restore frataxin protein levels to normal in cells taken from patients, a study has found. FA is caused by a mutation in the FXN gene, resulting in reduced levels of frataxin, a protein…

PTC Therapeutics announced it will acquire Agilis Biotherapeutics, a company focused on the development of gene therapies targeting rare diseases that affect the central nervous system (CNS). The acquisition will represent an expansion of PTC Therapeutics’ portfolio by including Agilis’ lead product candidate AGIL-AADC, for aromatic L-amino…

Patients with Friedreich’s ataxia (FA) have smaller spinal cords and evidence of atrophy in specific areas of the brain — differences that, in their degree, work to help predict clinical decline, a German study reports. The study, “Structural characteristics of the central nervous system in Friedreich ataxia:…

Omaveloxolone, Reata Pharmaceuticals’ investigational candidate for the treatment of Friedreich’s ataxia (FA), has been granted orphan drug status from the European Medicines Agency. The EMA’s decision follows orphan drug designation from the U.S. Food and Drug Administration granted in June 2017. These designations are expected to…

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…