News

Ataxia patients who took part in a new, at-home program for speech impairment showed significant improvements in their ability both to speak more clearly and retain vocal control, results of a small four-week study showed. These findings were presented in an IARC 2017 poster session by Adam P. Vogel with the…

A new set of small molecules specifically targeting the ubiquitin degradation system inside cells was found to effectively increase frataxin protein levels in several cell types taken from Friedreich’s ataxia (FA) patients, and merits further investigation. The study reporting these findings, “Highly specific ubiquitin-competing molecules promote frataxin accumulation in Friedreich ataxia iPSC-derived neuronal…

Dr. Colin Meyer, the chief medical officer and vice president of Reata Pharmaceuticals, spoke Friday in a taped interview with reporter Patricia Inacio about omaveloxolone, an oral therapy in line to possibly become the first FDA-approved treatment for Friedreich’s ataxia. A Phase 2 clinical trial, called MOXIe (NCT02255435), is moving into a second and…

The degree of genetic defects in the frataxin gene appears to result in adults with Friedreich’s ataxia having a relatively smaller left ventricle in the heart, a study presented as a poster at IARC 2017 reported. The poster was presented by Roger Peverill of the Monash Cardiovascular Research Centre at Monash…

Synthetic molecules were able to increase frataxin protein levels in cells taken from Friedreich’s ataxia patients to levels near those found in cells of healthy people, results of an early study, reported at IARC 2017, showed. The presentation, by David Corey at the University of Texas Southwestern, was titled “Activation of…

Patients with different types of spinocerebellar ataxias showed significant improvement in their ability to hear and perceive complex sounds — essential to participating in everyday conversations — when wearing a wireless listening device, a small study showed. The data was presented at IARC 2017 by Kay Uus with the University of Manchester on…

Clinical trials to assess changes in the motor skills of Friedreich’s ataxia patients can and should include physical tests — specifically, the so-called exercise stress test performed on adaptive equipment, a new study reports. The study was presented by Kimberly Lin of The Children’s Hospital of Philadelphia and the Perelman School of Medicine…

Intimate and focused, conferences like IARC 2017 — the International Ataxia Research Conference — are the type of scientific meeting that “all rare disease patient groups should try to do,” Warren Huff, the founder and chief executive officer of Reata Pharmaceuticals, said in an interview with Friedreich’s Ataxia…

Problems in the somatosensory (sensory nervous) and auditory systems of patients with Friedreich’s ataxia are potential biomarkers of early sensory damage, according to a small study. The research, “Cortical responses and change detection to auditory and somatosensory stimuli in Friedreich ataxia,” was presented at IARC 2017  by Gilles Naeije of the Service…

In this Facebook Live Chat, reporter Hal Foster — joined by two leading Friedreich’s ataxia researchers, Louise Corben with the Murdoch Childrens Research Institute in Australia, and David Lynch with Children’s Hospital of Philadelphia — looked back at day three of IARC 2017 in Pisa, Italy, and toward what the future might…