News

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…

People with Fabry disease have higher-than-normal levels of three inflammatory markers in their blood, according to a recent study. These markers include elevated neopterin and biopterin levels, and an increased kynurenine-to-tryptophan ratio. The study, “Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease,”…

A woman in her 20s with Fabry disease was safely treated with agalsidase alfa — a commonly used enzyme replacement therapy (ERT) — during her two pregnancies with no resulting complications, a case study reported. During the first pregnancy, “we did not observe any adverse event on…

Fabry Awareness Month, which is marked every April to draw attention to Fabry disease, is shining a light on the “heroes” who are living with the disease and those who support them. The month’s activities seek to heighten awareness among the general public, as well as among researchers,…

Centogene has extended a collaboration deal with Takeda in which the two companies will continue to provide diagnostic services to patients with lysosomal storage disorders — which may help people with Fabry disease to get a correct diagnosis. The partnership was initially established to improve patient access…