Magdalena Kegel,  —

The production and function of mitochondria — cellular power plants that convert nutrients to energy — is impaired in the cerebellum of the brain in early stages of a Friedreich’s ataxia mouse model, researchers at Children’s Hospital of Philadelphia report. The findings support the idea that the cerebellar disease in…

In patients with Friedreich’s ataxia, the severity of the mutation in the frataxin gene may become worse over time, according to a study published in the journal PLOS ONE. This insight has an impact on the understanding of the timing of symptom onset, and is crucial for the…

Sensory neurons derived from patients with Friedreich’s ataxia may be a valuable model for studying disease processes and test new treatments, researchers from the Université Libre de Bruxelles in Belgium argued. The neurons, grown from patients’ stem cells, capture many of the features researchers believe are key disease mechanisms…

Biomarin has selected a potential therapy candidate to test in human clinical trials in Friedreich’s ataxia. The compound, BMN 290, turns the frataxin gene back on by altering the three-dimensional structure of the genetic sequence. Tests in animal models of Friedreich’s ataxia show that BMN 290 increases frataxin production…

Among all efforts made to advance research and treatment development in Friedreich’s ataxia (FA), one stands out: the Friedreich’s Ataxia Global Patient Registry run by the Friedreich’s Ataxia Research Alliance (FARA). This FA registry aims to collect data from patients worldwide to make clinical trial recruiting a more efficient…

A University of Pennsylvania medical professor has won an American Chemical Society award for his pioneering work on the molecular abnormalities that underpin Friedreich’s ataxia. Dr. Ian A. Blair received the 2017 Founders’ Award from the society’s Division of Chemical Toxicology for helping to increase understanding of the abnormalities. Blair is the A.N.

Research into how abnormalities in the large area of the brain are part of Friedreich’s Ataxia disease processes will advance understanding and improve the chances of finding new treatments, researchers from Australia’s Monash University contend in a review. But research needs to focus on larger, multi-modal studies that will allow both…

Researchers at the Children’s Hospital of Philadelphia (CHOP) have linked the presence of diabetes in Friedreich’s ataxia (FA) patients to more severe symptoms and a reduced capacity to manage daily living tasks. These insights suggest that identifying patients with diabetes and more actively managing their disease might help improve their health…

People with late-onset Friedreich’s ataxia have similar, but not identical, abnormalities of brain structures as those who become ill at an earlier age, researchers recently demonstrated. The study sheds light on why the features of the disease differ in people with early and late onset. Researchers also argued that their…

Pfizer is seeking a European patent on a family of compounds that can treat Friedreich’s ataxia by increasing levels of the frataxin protein that is lacking in the disease. It noted in its patent application that Resverlogix has already developed a therapy called apabetalone (RVX-208) that is based on the compounds.