Lindsey Shapiro, PhD, science writer —

Long-term use of Galafold (migalastat) preserved kidney function and prevented serious organ complications in Fabry disease patients over more than three years of treatment, according to new analyses of data from a real-world patient registry. These patients were on average older and had a relatively severe disease burden,…

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…

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…

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…

Researchers in England are working toward identifying and addressing barriers to reaching a Fabry disease diagnosis among underrepresented communities, particularly within ethnic minority and low socioeconomic status groups. The project is spearheaded by Richard Steeds, MD, a professor at the University of Birmingham and consultant cardiologist at University Hospitals…

A smartphone app, called Fabry App, for remotely assessing Fabry disease was found by patients to be helpful for tracking day-to-day fluctuations in symptoms, while their doctors found it easier to monitor them and identify needs for intervention, a small study conducted in the U.K. shows. “A well-designed app can…

The investigational therapy AL01211 safely lowered levels of globotriaosylceramide (Gb3) — the molecule that toxically accumulates in Fabry disease — among healthy adults taking part in a Phase 1 trial, according to published results. The oral treatment, being developed by AceLink Therapeutics, also is being tested in…

A year of treatment with Elfabrio (pegunigalsidase alfa) is well tolerated and slows the progression of kidney disease in men and women with Fabry disease, according to final published data from the BRIDGE Phase 3 clinical trial. The enzyme replacement therapy (ERT) from Protalix BioTherapeutics and Chiesi Global Rare…

Identifying small nerve fiber involvement early in Fabry disease (FD) could be critical to enabling timely diagnosis and treatment, according to a recent report. An array of clinical, sensory, and nerve function tests were used to identify signs of small nerve fiber neuropathy (SFN), or symptoms of nerve damage,…

The U.S. Food and Drug Administration (FDA) has cleared a Phase 1/2a trial to test uniQure‘s gene therapy candidate AMT-191 in a small group of people with Fabry disease. UniQure says it expects that enrollment in the U.S.-based trial — which will recruit six patients in all —…