News

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…

This month’s Democratic takeover of the U.S. House of Representatives following the Nov. 6 midterm elections could be good news for Americans with rare diseases, according to the National Organization for Rare Disorders (NORD), which represents 280 patient advocacy organizations. “The entire community advocated against the repeal of the Affordable…

People with Friedreich’s ataxia (FRDA) have fewer small nerve fibers in their skin compared with healthy subjects, and the greater a patient’s defects in the frataxin (FXN) gene, the more the nerve fiber loss, a…

Iron chelation therapy using deferiprone, while helping heart function, does not seem to improve neurological symptoms in Friedreich’s ataxia patients, a review study argues. The study, “New Perspectives in Iron Chelation Therapy for the Treatment of Neurodegenerative Diseases,” was published in the journal Pharmaceuticals. Some research suggests that…

Muscle stimulation through focal vibrations produced by a specialized device may prevent further deterioration of motor function in children with cerebellar ataxia, but not in Friedreich’s ataxia patients, according to a small study. The study, “Non-invasive Focal Mechanical Vibrations Delivered by Wearable Devices: An Open-Label Pilot Study…