News

The first patient has been dosed in uniQure’s U.S. Phase 1/2a clinical trial of AMT-191, its gene therapy candidate for Fabry disease. The clinical trial, an open-label study (NCT06270316) focused on safety and early efficacy, is still recruiting about 12 adult male patients at a…

A chronic cough was the only initial symptom in a 46-year-old man who was eventually diagnosed with Fabry disease, a case study indicates. “This case highlights that chronic cough may be an important clue for pulmonary involvement in [Fabry disease] and should prompt further evaluation in patients with other…

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,…

Modifying a potential gene therapy with a specific antibody increased its efficacy in cells that line blood vessels — cells whose dysfunction underlies cardiovascular problems in Fabry disease — a new study from researchers in Spain and the Netherlands showed. This strategy, tested here in a cellular model of…

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…

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…