News

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…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

Treatment with histone deacetylase inhibitors (HDACi) can restore the cellular pathways that become impaired upon loss of functional frataxin protein in Friedreich’s ataxia, a study using stem cells shows. The study, “Transcriptional profiling of isogenic Friedreich ataxia neurons and effect…

Large interruptions of GAA repeats in the frataxin (FXN) gene are very rare among patients with Friedreich’s ataxia (FA), a study has found. However, when these are present, it may be of importance to disease progression, researchers say. The study, “Large Interruptions of GAA Repeat Expansion Mutations in…