News

Horizon Pharma has dropped its entire Actimmune (interferon gamma-1b) clinical development program in Friedreich’s ataxia following the failure of a Phase 3 trial which aimed to show that the treatment improves outcomes of the disease. The results are disappointing for patients with a disease lacking any effective treatment. The STEADFAST…

Recent research in Friedreich’s ataxia (FA) has revealed new possibilities for lipid metabolism as a therapeutic target to slow the progression of the disease in patients. The latest knowledge of the molecular basis of FA and its underlying metabolic alterations was discussed in a review study titled “Oxidative stress…

Researchers have identified the molecular mechanism through which loss of frataxin, the protein missing in Friedreich’s ataxia (FA), causes cell damage leading to neurodegeneration, according to a new mouse study. This finding may prove helpful in designing new therapies to treat Friedreich’s ataxia patients. The study, “Loss Of Frataxin…

Restoring normal frataxin production, the protein missing in Friedrich’s ataxia (FA), may become possible in the future, according to research recently published in the journal PLoS One. The study is titled “Disruption Of Higher Order DNA Structures In Friedreich’s Ataxia (GAA)n Repeats By PNA Or LNA Targeting,” and was…

DNA-like compounds that appear to correct the abnormal three-dimensional structures formed in the mutated region of the frataxin gene — the culprit of Friedreich’s ataxia — may open research into how the atypical structures prevent the gene from working. This, in turn, could lead to the development of drugs that…

Heart cells grown from patient-derived, induced pluripotent stem cells can provide plenty of information about heart disease in Friedreich’s ataxia, a recent review argues, underscoring that such cell models are also the way forward to advance discovery of drug therapies. However, the review, “Using human pluripotent stem…

Analyzing speech disparity in Friedreich’s ataxia using a program called Analysis of Dysphonia in Speech and Voice (ADSV) provides a measure that has excellent sensitivity and specificity, according to a study published in the Journal of Voice. Finding a good measure that can track disease progression and determine the effectiveness of any treatment is vital for the management of Friedreich’s ataxia. According to the authors, a better understanding of the condition can help optimize the communication abilities, occupational success, and social interactions of the affected people.

Younger Friedreich’s ataxia patients have an abnormal assembly of heart structures called intercalated discs (ICD) which prevent proper transmission of signals between heart muscle cells and contribute to heart disease. The study, “The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy,” published in the…

An Indian population study has shown that a specific mutation in a gene involved in iron regulation, the HFE gene, is seen frequently in patients with Friedreich’s ataxia (FA), and it could be a culprit in damaging the peripheral nerves in FA. The study, “Iron related hemochromatosis (HFE) gene mutations…

Patients with late-onset Friedrich’s ataxia (LOFA) may present variable sensory nerve conduction, according to new research. The study, “Variable Sensory Nerve Conduction Parameters In Late Onset Friedreich Ataxia,” was published in the journal Muscle & Nerve. Nerve conduction studies are commonly performed by neurology specialists to assess the…