News

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…

Depression can be severe and clinically relevant among patients with Friedreich’s ataxia, and its symptoms are most often expressed as a lack of motivation and negative feelings toward self, a study reports. The study, “Depressive symptoms in Friedreich ataxia,” were published in the International Journal of Clinical and Health…

A naturally produced RNA molecule called FAST-1 can prevent the readout of the FXN gene and, consequently, production of the frataxin protein, contributing to the development of Friedreich’s ataxia, researchers suggest. This finding was reported in a study published in the journal Scientific Reports and supports the hypothesis that inhibition…

High blood levels of three specific proteins may represent new biomarkers to monitor active immune cells and ongoing nerve cell damage in Friedreich’s ataxia, researchers suggest. These findings were reported in the study, “Plasma Markers of Neurodegeneration Are Raised in Friedreich’s…