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…
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