News

A large, European registry study shows that Friedreich’s ataxia patients have a considerable spectrum of clinical symptoms that go beyond the typical neurological ataxia. Common non-neurologic clinical symptoms identified by researchers included abnormal eye movements and skeletal deformities, as well as urinary problems and heart disease. Their study, “Nonataxia…

Specific antioxidant compounds and derivatives were able to boost levels of the protein frataxin in cells from Friedreich’s ataxia (FA) patients, according to researchers from Arizona State University in Tempe. Their study, “Phenothiazine antioxidants increase mitochondrial biogenesis and frataxin levels in Friedreich’s ataxia cells,” appeared in the journal …

Long-term use of EPI-743 (vatiquinone), an investigational therapy being developed by BioElectron, can improve neurological function and prevent disease progression in Friedreich’s ataxia (FA) patients, results from a Phase 2 clinical trial show. Trial data was reported in the study, “Double-blind, randomized and controlled trial of EPI-743 in…

A discovery made in plants may shed light on the genetic mechanism underlying Friedreich’s ataxia (FA) and open the door to new ways to treat the disease, a study reports. Looking at genetic alterations in plants similar to the ones found in the…

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…