FABRY DISEASE

This study tested if a new, potentially more affordable version of an existing Fabry disease drug works as well and is as safe. It involved 20 adult patients who were already stable on the standard treatment, Fabrazyme. For one year, researchers monitored if switching them to the…

This study tested the safety and effectiveness of Fabrazyme, an enzyme replacement therapy, for Chinese patients with Fabry disease. Twenty-two participants received treatment for 48 weeks while researchers monitored side effects and changes in disease markers. The goal was to un…

This study followed 16 patients over 12 years old with a specific type of Fabry disease for two years. The goal was to see if the drug migalastat was safe and effective for long-term use in controlling this rare genetic disorder. Researchers tracked side effects, kidney and heart…

This study tested a computer program designed to find people with Fabry disease earlier by scanning 10 years of past hospital records. The goal was to see if the AI algorithm could accurately flag patients who likely have this rare genetic condition. No new treatments were tested…

This study aimed to see if a new version of an existing drug for Fabry Disease behaves the same way in the body. Researchers gave a single dose of either the original drug or a new version to 24 healthy male volunteers. They then took blood samples to measure drug levels and acti…

This study aimed to better understand the daily lives of people with Fabry disease, a rare genetic condition. Researchers observed 100 UK adults with the disease for one week using a thigh-worn activity tracker and questionnaires. The goal was to learn how physical activity, slee…

This study aimed to understand the full burden of receiving enzyme replacement therapy for Fabry disease, a rare genetic disorder. Researchers observed 82 adult patients and their caregivers across multiple countries to measure the time doctors spent on infusions, the time and tr…

This study aimed to find out how many Portuguese patients with unexplained heart muscle problems actually had a hidden genetic condition called Fabry disease. Researchers screened 409 adults with specific types of heart thickening or enlargement where the cause was unknown. The g…