Assessing the levels of methylation — small chemical tags on specific DNA regions — in the FXN gene may help identify Friedreich’s ataxia (FA) carriers showing no disease symptoms, a study suggests. Making such a diagnosis is often “fraught with technical difficulties,” according to researchers, who sought “a reliable…

The investigational therapy DT-216 safely worked to more than double the activity of the FXN gene — involved in energy production in cells — in people with Friedreich’s ataxia (FA). That’s according to new data from a single-ascending dose (SAD) Phase 1 clinical trial, which showed the treatment candidate was…

DNA repeats in the gene that codes for frataxin — a protein that’s not made enough in Friedreich’s ataxia — act as a molecular “stop sign” that results in no working protein being made, a study in lab-grown cells found. Researchers were able to offset the “stop sign” and…

A combination of the antioxidant resveratrol and the multiple sclerosis treatment dimethyl fumarate (DMF) increased the activity of the FXN gene — whose mutation causes Friedreich’s ataxia — in cell and mouse models of the disease, a study showed. Using resveratrol and DMF together also led to improved…

Both clinical severity and frataxin protein levels correlate with the number of disease-causing trinucleotide repeats in the FXN gene of people with Friedreich’s ataxia (FA), with more repeats linked to worse disease. But FA symptoms appear to plateau with anything greater than 700 repeats — after which both clinical…

Friedriech’s ataxia (FA) affects growth and weight in both adult and children, with the degree of differences from the general public in these key measures of health associated with disease severity, a study based on data from a large patient group reported. While children showed a markedly higher prevalence…

A new DNA test has been developed to simultaneously screen for more than 50 genetic neuromuscular diseases, including Friedreich’s Ataxia (FA), helping to diagnose patients far more quickly than standard genetic testing techniques, according to a recent study. “This new test will completely revolutionize how we…

People who have interruptions in a specific part of their GAA repeats in the FXN gene experience the onset of Friedreich’s Ataxia (FA) about nine years later than those without such breaks, a study found. These findings highlight the importance of GAA repeat interruptions on the course of FA,…

The gene therapy startup AavantiBio has launched with $107 million in funding to advance its lead clinical program for the treatment of Friedreich’s ataxia (FA). Early this year, the Boston-based company received a $1 million grant from the Muscular Dystrophy Association (MDA)’s Venture Philanthropy Fund…

No. Thank you for reading this week’s column. *** Just kidding! I want to unpack that question, because it is a valid one. Plus, the answer has a pretty interesting backstory. I am a columnist without any real scientific training,…

Simultaneous suppression of two histone methyltransferases (HMTs) significantly increased the activity of the FXN gene in cells derived from people with Friedreich’s ataxia (FA) and in a mouse model of the disease. However, this boost in FXN activity failed to raise the levels of its resulting protein, frataxin,…

Increased thickness of the lower left chamber of the heart — the left ventricle — is one of the most common structural heart abnormalities found in patients with Friedreich’s ataxia and also correlates with genetic disease severity in adults, a study has found. The study, “Left ventricular structural…

Removal of the genetic defect that causes Friedreich’s ataxia (FA) in heart cells derived from a patient with heart disease associated with FA reversed the cells’ abnormal molecular profile, a study shows. This gene-editing strategy could be a useful tool for regenerative medicine aimed at treating heart defects associated…

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…

A treatment approach that uses genetically engineered proteins was able to significantly increase the levels of expression of the FXN gene, which is mutated in Friedreich’s ataxia, allowing for greater frataxin protein to be produced in patients’ cells and in a mouse model of the disease. These findings suggest…

A discovery made in plants may shed light on the genetic mechanism underlying Friedreich’s ataxia (FA) and open the door to new ways to treat the disease, a study reports. Looking at genetic alterations in plants similar to the ones found in the…

Researchers report that genetic tests for Friedreich’s ataxia (FA) are complex and may require additional screening in cases of typical clinical presentation. The study, “Pitfalls in molecular diagnosis of Friedreich ataxia,” was published in the European Journal of Medical Genetics. Friedreich’s ataxia is caused by mutations in the…

Bone marrow transplants led to nerve cell restoration in a mouse model of Friedreich’s ataxia (FA), a study showed. Benefits included improvements in movement, less nervous system damage, and the formation of new nerve cells. The study, “Bone marrow transplantation stimulates neural repair in Friedreich’s ataxia mice,” appeared…

Friedreich’s ataxia is an inherited disease that affects movement and coordination. It’s a progressive disease with symptoms including loss of strength, weakened muscles, spasticity, impaired speech, hearing and vision problems, and in some cases, diabetes and scoliosis. Interested in…

Friedreich’s ataxia is an inherited disease that affects movement and coordination. It’s a progressive disease with symptoms including loss of strength, weakened muscles, spasticity, impaired speech, hearing and vision problems, and in some cases diabetes and scoliosis. MORE: Five major symptoms of Friedreich’s ataxia Here are some important facts about the inheritance…

Scientists believe that delivery of functional frataxin mRNA via RNA transcript therapy (RTT) can become a potential therapy for Friedreich’s ataxia patients. The study, “Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich’s ataxia,” was published in the journal Scientific Reports. Friedreich’s…

Researchers have demonstrated in the lab (in vitro) and in living subjects (in vivo), that gene transfer of brain-derived neurotrophic factor (BDNF) protected models of Friedreich’s ataxia from neuronal degenerative death, providing a proof of principle that neurotrophins might be a therapeutic option to prevent and treat neurodegeneration associated with Friedreich’s ataxia.

New research indicates that a complete assessment of heart function can identify cardiomyopathy in most people with Friedreich’s ataxia (FA), and that electrocardiography, especially, shows early heart abnormalities. The work, titled “The cardiomyopathy in Friedreich’s ataxia — New biomarker for staging cardiac involvement,” appeared in the…

A team of researchers have identified six new, highly specific compounds that hold promise of bringing “new perspectives” to the treatment of Friedreich’s ataxia (FA). The research, entitled “A Yeast/Drosophila Screen to Identify New Compounds Overcoming Frataxin Deficiency,” was published in Oxidative Medicine and Cellular Longevity. FA is a neuromuscular…

In a recent study entitled “FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia” a team of researchers reported that the mechanisms leading to silencing of the FXN gene, the underlying cause of Friedreich ataxia (FA), is not confined to tissues and cells reported to be affected…