A machine learning algorithm to find patterns in data from infrared spectroscopy — a technique that can provide a molecular fingerprint by looking at how molecules in a sample take up light and reflect it — correctly distinguished people with Fabry disease from healthy adults in a pilot study,…

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…

A variant in the GLA gene associated with Fabry disease was found in four women with Parkinson’s disease, but they had no Fabry symptoms, according to results from a study of 236 Parkinson’s patients. According to the research team, the significance of the mutation and the relationship between the two…

Switching from enzyme replacement therapy (ERT) to Galafold (migalastat) is a valid and safe therapeutic option for Fabry disease patients with Galafold-amenable mutations, according to a real-life study from Italy. Notably, the data showed that Galafold resulted in greater and significant improvements in patients’ heart size and kidney function,…

The gene therapy candidate FLT190 — designed to increase blood levels of the enzyme alpha-GAL A, which is affected in Fabry disease — has been granted orphan drug designation by the European Commission,…

Scientists have found evidence that a GLA gene variant of unknown pathogenicity — meaning its ability to cause disease was still unknown — can trigger kidney disorders associated with Fabry disease. Their findings were described in the study, “Renal globotriaosylceramide deposits for Fabry…

A new mutation in the GLA gene was found in a Chinese patient with Fabry disease that leads to low alpha-galactosidase A (alpha-GAL A) activity and correlates with kidney symptoms linked to the disorder. The case report, “Functional evaluation of a novel GLA causative mutation…