News

Researchers report identifying two potential blood biomarkers of Friedreich’s ataxia disease progression and drug response that could be used, in addition to frataxin levels, as tools in future clinical trials of the disease. The study, “Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug…

Friedreich’s ataxia (FA) patients have elevated blood levels of a factor indicating increased collagen production, a finding that researchers could link to remodeling of heart tissue. These findings could help identify heart problems in FA patients, especially because heart conditions represent the typical cause of death in Friedreich’s ataxia. The study,…

A new study from the University of California reported several unknown neurobehavioral deficits observed in an animal model for Friedrich’s ataxia (FA) that can be used to assess the effect of potential drug therapies. The study, “Neurobehavioral deficits in the KIKO mouse model of Friedreich’s ataxia,” was…

The frataxin gene regulates iron storage in cells, but mutations in the gene are known to cause Friedreich’s ataxia (FA). A study now shows the mutation causes iron toxicity and the loss of nerve cells in fruit flies, an effect prevented when they were put on a low-iron diet. The…

Researchers at the College of Health & Life Sciences in London have identified a mechanism that may lead to neurodegeneration in Friedreich’s ataxia (FA) patients, and which could be a possible target for novel gene therapies. Their study, “Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and…

A case study of a Freidreich’s ataxia (FA) patient with associated cardiomyopathy reported that an experimental treatment — interferon gamma (INFγ) therapy — could improve cardiac function. The study, “Interferon gamma may improve cardiac function in Friedreich’s ataxia cardiomyopathy,” was recently published in International Journal of Cardiology. INFγ is an important cell signaling molecule,…

KRAM Wellness’ flagship product, Flexfit, is a three-in-one injury prevention product that provides a controlled stretch using an adjustable, non-elastic design. The company reports that, in addition to aiding fitness fans, this newly available device is used by chiropractors and physical therapists, and may be of benefit to people with dexterity problems, like Friedreich’s…

The nonprofit Global Genes, an organization for patients and families fighting rare and genetic diseases, is awarding more than $100,000 in travel stipends to help hundreds of patient advocates attend 5th Annual RARE Patient Advocacy Summit  Sept. 22-23 in Huntington Beach, California. After the summit, the 2016 Tribute to Champions of…

Pfizer recently acquired the biotech Bamboo Therapeutics which develops therapies for potential treatment of patients with neuromuscular and central nervous system (CNS) rare diseases – like Friedreich’s ataxia (FA). The purchase is expected to expand Pfizer’s portfolio in gene therapy by including the advanced recombinant Adeno-Associated Virus (rAAV) vector design and production technology; and a fully…

The U.S. Food and Drug Administration (FDA) has designated AGIL-FA, a gene therapy from Agilis Biotherapeutics intended as a potential treatment of Friedreich’s ataxia (FA), an Orphan Drug, a designation that speeds its development and testing. “Having the first gene therapy product candidate to receive orphan drug designation from the FDA for…