Lindsey Shapiro, PhD,  science writer—

CAP-004, Capsida Biotherapeutics’ experimental gene therapy for Friedreich’s ataxia (FA), safely delivered its genetic cargo to key disease-related tissues in nonhuman primates, new research shows. Specifically, that cargo was delivered to the heart, sensory nerves, and the central nervous system, or CNS, which comprises the brain and spinal…

Biogen’s Skyclarys (omaveloxolone) has been approved in Canada to treat people with Friedreich’s ataxia (FA) ages 16 and older, becoming the first disease-modifying therapy for FA to receive regulatory clearance in the country. The therapy was approved under Health Canada’s priority review process, which accelerates the review timeline…

The National Organization for Rare Disorders (NORD) is seeking participants for its survey-based study Living Rare, which aims to better understand the real-world lived experiences of people in the U.S. with rare diseases. Living Rare, the first large-scale study of its kind in the U.S., seeks to capture the…

Data from wearable sensors that are designed to collect real-world information about a person’s ability to function in daily life correlated well with standard clinical assessments of disease severity among people with Friedreich’s ataxia (FA), a study finds. These types of remote monitoring tools could help to better track…

Inhibiting ferroptosis, a type of iron-dependent cell death, could be a promising therapeutic strategy for heart disease management in people with Friedreich’s ataxia, a study found. Through a series of experiments, scientists found that mice lacking a protein called SIRT3 in heart cells showed cellular properties similar to what’s…

Friedreich’s ataxia (FA) patients with less common types of disease-causing mutations in the FXN gene may have a distinct clinical presentation from patients with a more standard genetic profile, research suggests. A certain group of these mutations associated with higher production of frataxin — the protein lacking in FA — were…

A gene-editing therapy designed to correct the FXN gene defect that’s associated with Friedreich’s ataxia (FA) reversed several cellular features of the disease in patient-derived nerve cells, according to recent research. Scientists identified that dysfunction of a cellular compartment called the endoplasmic reticulum (ER) might play a key role in…

Treatment with vatiquinone significantly slowed declines in upright stability among children and young adults with Friedreich’s ataxia (FA) in a clinical trial, leading researchers to predict it could delay the loss of patients’ ability to walk (ambulation) by about nine months. While the MOVE-FA clinical trial failed…

Use of the investigational therapy CTI-1601, now known as nomlabofusp, was associated with dose-dependent increases in levels of frataxin — the protein whose lack causes Friedreich’s ataxia (FA) — in skin and buccal cells of adult patients in a clinical trial. Treatment tolerability also was reported in top-line…

Diabetes, heart rhythm problems, and neurological disability were found to be the clinical factors most likely to influence life expectancy in people with Friedreich’s ataxia (FA) in a recent European registry study. Scientists used the information to generate a model, which also included left ventricle dysfunction, that doctors might…

MRI imaging indicates that Friedreich’s ataxia (FA) patients have impairments in proprioception — sensory processing related to body movement and location — relative to healthy adults, but these changes do not contribute to overall disease severity, according to recent research. Brain responses to tactile stimulation (light touch) were similar…

Researchers are conducting a Phase 2 clinical trial to evaluate the safety, efficacy, and molecular effects of dimethyl fumarate (DMF), an approved treatment for multiple sclerosis (MS) and psoriasis, in people with Friedreich’s ataxia (FA). Based on both preclinical research and clinical studies in MS patients, it…

Three mouse models of Friedreich’s ataxia (FA) do not accurately reflect FA-associated cardiomyopathy — a serious heart complication — as seen in patients, underscoring the difficulties in modeling this complication, a study reports. Across these different models, only one exhibited gene activity changes in the heart consistent with cardiomyopathy…

Inducing oxidative stress — a type of cellular damage — into nerve cells of mice caused symptoms similar to those observed in Friedreich’s ataxia (FA) patients, a study reported. Animal symptoms included a loss of motor coordination (ataxia), cardiac issues, nerve cell degeneration, and problems in the workings of…

People with Friedreich’s ataxia (FA), regardless of age, have a thinner layer of nerve cells in the eye’s retina compared with unaffected individuals, a study involving almost 200 patients found. Such thinning, which correlated with neurological disease severity and vision loss, continued to increase over time. Researchers believe retinal…

In-depth monitoring and prompt treatment enabled a man with Friedreich’s ataxia (FA) to successfully undergo a thyroidectomy — thyroid gland removal surgery — despite active symptoms of a life-threatening “thyroid storm” during the procedure, according a recent case report. A thyroid storm is a medical emergency that arises when…

Disruptions to the DNA replication process during cell division may cause the expansion of FXN mutations that underlie Friedreich’s ataxia (FA), according to a recent study. Researchers have developed a new system to study the growth of these mutations — called GAA repeats — in human cells. They found that…

Researchers have identified a more high-throughput genetic sequencing method to quantify the GAA repeats in the FXN gene that cause Friedreich’s ataxia. Since the number of repeats has been linked to clinical disease presentation, a better way to show their quantity will aid a more accurate understanding of how a…

A new mouse model of Friedreich’s ataxia (FA), designed to better reflect a more severe disease course, could help researchers study the disease’s mechanisms and develop new therapies. The mice, which reportedly house the largest number of GAA repeats in the FXN gene of any existing model — about 800-900 of…

Skyclarys (omaveloxolone), the first approved therapy for Friedreich’s ataxia (FA), demonstrate a favorable heart and liver safety profile in the MOXIe clinical trial, analyses of trial data report. Changes in markers of heart or liver function generally were not accompanied by changes in disease symptoms. Skyclarys “was…

Reata Pharmaceuticals’ omaveloxolone has won approval from the U.S. Food and Drug Administration (FDA) for treating Friedreich’s ataxia (FA), making it the first-ever therapy for this patient population. Now branded Skyclarys, the once-daily oral treatment is indicated for treating FA in adults and adolescents ages 16 and older.

Prime Medicine’s gene-editing technology — called Prime Editing — successfully corrected the genetic deficits associated with Friedreich’s ataxia (FA) and restored nerve cell projections in preclinical studies using patient cells, the company has announced. The company also announced positive updates from a number of its 18 other developmental programs…

Low levels of the frataxin protein — the underlying cause of Friedreich’s ataxia (FA) — and the ensuing problems in mitochondria, the cells’ powerhouses, may activate certain immune responses in the disease, a study suggests. In lab-grown human heart, muscle precursor, and connective tissue cells, suppressing frataxin production was…

Higher than normal activation of the mTOR and AKT signaling pathways — both key to proper cardiovascular function — may underlie the heart disease called cardiomyopathy that is common in people with Friedreich’s ataxia (FA), according to a new study using a mouse model of FA. When the mice…

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…

The annual Friedreich’s Ataxia Awareness Month has commenced to raise disease awareness and honor the 15,000 people living with Friedreich’s ataxia (FA) worldwide. Observed each May, the event seeks to spotlight the rare neuromuscular disease among the public, scientists, health professionals, and lawmakers around the world. “One of the…

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…

The U.S. Food and Drug Administration (FDA) has cleared Design Therapeutics to begin a Phase 1 clinical trial investigating its GeneTAC small molecule DT-216 for the treatment of Friedreich’s ataxia (FA). This clearance comes after the submission of an investigational new drug (IND) application based…

The U.S. Food and Drug Administration (FDA) has approved a Phase 1/2 clinical trial for LX2006, Lexeo Therapeutics’ investigational gene therapy for heart disease in people with Friedreich’s ataxia (FA). Lexeo submitted the trial for approval under an investigational new drug (IND) application based on promising preclinical data. The…

The U.S. Food and Drug Administration (FDA) will maintain a hold on the clinical development of CTI-1601, Larimar Therapeutics’ experimental treatment for Friedreich’s ataxia (FA), which was originally paused for safety concerns and a request for more data. Larimar is now analyzing data from…