Alice Melão,  —

Pfizer and REGENXBIO have established a new collaboration to develop gene therapies specifically designed to treat people with Friedreich’s ataxia. Under the terms of the agreement, Pfizer will be able to use REGENXBIO’s proprietary NAV adeno-associated virus (AAV) system to deliver genes that could help…

Dimethyl fumarate, an approved therapy for multiple sclerosis (MS), may help people with Friedreich’s ataxia by increasing the amount of frataxin protein that is deficient in these patients, an international research team has found. This suggests that the treatment may help overcome the metabolic impairment characteristic of Friedreich’s ataxia and…

A patient with Friedreich’s ataxia has been dosed with Minoryx Therapeutics’ investigational therapy leriglitazone in the ongoing Phase 2 FRAMES trial, the company announced. This first patient was enrolled at the Hospital La Paz in Madrid, and was administered the new therapy at the end of April…

Minoryx Therapeutics announced it will soon launch a Phase 2 trial in Spain to evaluate its lead therapeutic candidate, MIN-102, in patients with Friedreich’s ataxia. The study (2018-004405-64), named FRAMES, was approved by the Spanish Agency of Medicines and Medical Devices (AEMPS) and is expected to initiate patient…

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…

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…

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…

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…

A noninvasive assessment of the nerve structures in the superficial membrane of the eye, known as the cornea, can help quantify the severity of nerve cell damage in patients with Friedreich’s ataxia, researchers suggest. This finding was reported in the study, “Corneal Confocal Microscopy: Neurologic Disease Biomarker…