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…
News
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…
Despite available treatments, many people with Fabry disease still experience symptoms that can affect their quality of life, a new study highlights. The findings “may be helpful for healthcare providers and drug developers seeking to improve the care of patients with [Fabry disease] by addressing unmet needs,” researchers wrote…
Early diagnosis and a quick start to enzyme replacement therapy (ERT) with agalsidase alfa eased a patient’s Fabry disease symptoms, preventing them from getting worse for at least six months. That’s according to a new report from China that detailed the case of a man in his 30s,…
Pregnancy increased the severity and frequency of pain among women with Fabry disease who lived with moderate pain before becoming pregnant, a study from Austria reported. Further, preeclampsia, or dangerously high blood pressure during pregnancy, occurred three times more often in Fabry women than in the general population, according…
A 69-year-old man diagnosed with Fabry disease who developed heart failure, high pulmonary arterial pressure, and heart microcirculation dysfunction saw his symptoms ease after treatment with vericiguat, according to a case reported in China. Vericiguat, which is sold as Verquvo, is an oral medicine that’s approved in the U.S.
Nearly one-third of Danish patients in Fabry disease registries were found to have poor lung function, with obstructive airflow limitation most common among those with severe disease and smokers, a study found. People with Fabry “frequently develop an obstructive airflow limitation,” which is found “not only in smokers, but…
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