Alice Melão,  —

Several studies have suggested that the deregulation of iron processing in the organism is an important feature of frataxin deregulation, and consequently of Friedreich’s ataxia, according to a review study. In the study, “Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?”…

A comprehensive evaluation of the brain with magnetic resonance imaging (MRI)-based methods and clinical features of Friedreich’s ataxia (FA) may provide valuable information to fully understand the neurological impairment linked to the disease, researchers suggest. This is supported by the findings from the study, “Functional and Structural…

A rare case report of a 16-year-old boy with Friedreich’s ataxia who retained responsive tendon reflexes highlights the importance of recognizing unusual symptoms of the disease to enable proper and timely care. The case study was described by researchers from the University of Kentucky College of Medicine in the study…

Long-term use of EPI-743 (vatiquinone), an investigational therapy being developed by BioElectron, can improve neurological function and prevent disease progression in Friedreich’s ataxia (FA) patients, results from a Phase 2 clinical trial show. Trial data was reported in the study, “Double-blind, randomized and controlled trial of EPI-743 in…

PTC Therapeutics announced it will acquire Agilis Biotherapeutics, a company focused on the development of gene therapies targeting rare diseases that affect the central nervous system (CNS). The acquisition will represent an expansion of PTC Therapeutics’ portfolio by including Agilis’ lead product candidate AGIL-AADC, for aromatic L-amino…

A therapy already approved to treat cancer could potentially be used to prevent heart abnormalities in Friedreich’s ataxia patients, according to a study that used a fruit fly model of the disease. The study, “Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a…

Painful muscle spasms in a patient with Friedreich’s ataxia (FA) were managed by administering baclofen in the spinal canal, a case study reports. The study was published in the journal Stereotactic and Functional Neurosurgery. About 11-15% of patients with Friedreich’s ataxia experience painful muscle spasms or muscle contractions, but little…

Friedreich’s ataxia is associated with a chronic inflammatory state, according to the genetic pattern of peripheral blood cells revealed in a research study. The UCLA study is titled “Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients,” and is published in the…

The Muscular Dystrophy Association (MDA) awarded 13 grants totaling $2.6 million to promote and support research projects aimed at better understanding and treating muscular dystrophies and related life-threatening diseases, including Friedreich’s ataxia. Five of the new grants were awarded to recognized researchers in the neuromuscular field, and five were granted…

Using human cells, researchers have found that targeting the MLH3 protein involved in DNA repair can reduce the GAA repeat expansion that causes Friedreich’s ataxia. This finding adds new knowledge about the mechanisms involved in Friedreich’s ataxia, but it also may lead to new development of disease-modifying therapies. The finding…