Algorithm may help identify Fabry disease based on insurance data

An international team of scientists has developed a novel algorithm that may help identify people with Fabry disease based on insurance claims data. The model showed particular promise for detecting potential Fabry patients who are young and/or female, according to the study “Unveiling the untreated: development…

It’s critical to conduct thorough clinical evaluations to determine whether a newly identified mutation in the GLA gene is actually causing Fabry disease — before initiating treatment in patients. That’s the message highlighted in a report from Italy describing the case of a woman now in her early 40s whose GLA…

For several years before I had a heart transplant in September 2020, I’d become progressively weaker, more fatigued, and out of breath. Like many others with Fabry disease, I had heart, kidney, and lung disease, and I’d lived an increasingly sedentary lifestyle for several years. As my…

Note: This column describes the experiences of the author’s children with various enzyme replacement therapies. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy. “Straight Paths With Crooked Lines,” my column, describes the VanVickle family’s journey with Fabry disease,…

Despite long-term use of enzyme replacement therapy (ERT), a man with Fabry disease in Japan had multiple strokes that led to rapidly worsening cognitive function and psychological issues, according to a case report that illustrates the psychosocial burden that patients may experience. The patient’s worsening cognitive issues made…

Noninvasive quantitative magnetic resonance imaging, or qMRI, accurately detected excess globotriaosylceramide (Gb3), the fatty molecule that accumulates in people with Fabry disease, in the brains of people with the disease, a study reports. “We demonstrated the feasibility and clinical relevance of noninvasively assessing cerebral Gb3 accumulation in [Fabry] using…

More than a third of Fabry disease patients show signs of cardiac disease progression despite use of enzyme replacement therapy (ERT), according to a recent study. An existing diagnosis of the heart disease, called left ventricular hypertrophy (LVH), was found to be the strongest predictor that a person would…

Relay Therapeutics said it expects to start clinical development of its treatment candidate for Fabry disease in the second half of 2025. The program in Fabry disease, together with other programs under development for another genetic disease and solid tumors, were disclosed in a June 6 event, “New…

Fabry disease, in rare instances, may be among the causes of aseptic meningitis, a condition in which there is inflammation of the membranes covering the brain and spinal cord that’s not caused by an infection, a study found. The mechanisms underlying inflammation of these membranes, called the meninges, in…

Researchers detected a mutation in the GLA gene, which is defective in Fabry disease patients, in people with Parkinson’s disease, a study revealed. Parkinson’s patients who carried this mutation showed signs of Fabry, particularly affecting the heart and nervous system. The findings follow a previous report that…