News

Edge Research, funded by the Muscular Dystrophy Association (MDA), carried out a survey called ONEVoice to evaluate key areas of concern and devise solutions among carers, family members and patients with different types of neuromuscular disorders. ONEVoice, which took place from Jan. 18 to Feb. 20, involved…

Iron-induced cell death may contribute to the progression of Friedreich’s ataxia, a study in human and mice cells shows. Inhibition of this degenerative mechanism may represent a new therapeutic strategy for people affected by this rare disease, researchers suggest. The study, “Ferroptosis as a novel therapeutic target…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

Neurocrine Biosciences and Voyager Therapeutics have formed an alliance in hopes of bringing potentially life-changing treatments to market for Friedreich’s ataxia (FA) and Parkinson’s disease. The collaboration is aimed at developing and commercializing Voyager’s gene therapy programs, including VY-FXN01 for Friedreich’s and VY-AADC for…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…

A 12-week treatment with the investigational therapy omaveloxolone improved neurological function, and was safe and well-tolerated by Friedreich’s ataxia (FA) patients in a Phase 2 clinical trial. The study, “Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia,” was published in the journal…

Etravirine — an FDA-approved antiviral therapy currently used in the treatment of HIV — could serve as a specific treatment for Friedreich’s ataxia (FA), according to a study. Etravirine increased frataxin in cells derived from FA patients to levels similar to those of healthy cells. The article, “…

Increasing the amount of a protein called GRP75 repairs the characteristic Friedreich’s ataxia (FA) frataxin deficiency and mitochondrial alterations, according to a study in patient-derived and mouse cells. The study, “GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models,” was published in the…

Adult patients with Friedreich’s ataxia have generalized abnormalities in the structure and function of both left and right ventricles of the heart, a study shows. The study, “Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia,” was published in the…

A gene therapy approach to increase the amount of the critical frataxin protein shows that correcting only half of the heart muscle cells, or cardiomyocytes, is enough to fully restore the cardiac function in a mouse model of Friedreich’s Ataxia (FA) The study, “Correction of half…