FABRY DISEASE

This study follows 60 adults with Fabry disease across 8 German centers to see how well pegunigalsidase-alfa works in everyday practice. Participants receive the enzyme replacement therapy for 2 years, and researchers track kidney function and other outcomes. The goal is to see i…

This study looks at how safe the drug migalastat is and how it works in the body for people with Fabry disease who also have severe kidney issues or are on dialysis. It involves 14 adults with a specific genetic type of Fabry disease. The goal is to understand how the drug behave…

This phase 3 trial tests whether venglustat, a new daily pill, can improve heart muscle thickening in adults with Fabry disease compared to standard treatments. About 104 participants with Fabry disease and an enlarged heart will be randomly assigned to venglustat or usual care (…

This study looks at the long-term safety of a daily pill called lucerastat for adults with Fabry disease, a rare genetic disorder. About 107 people who completed a previous study will take the drug and be monitored for side effects over several years. The goal is to see if lucera…

This study is testing whether a 12-week physiotherapy and exercise program can improve physical fitness and quality of life in adults with Fabry disease. Fifteen participants will do regular exercise sessions using body weight, resistance bands, and increased daily activity. The …

This study tests whether venglustat can reduce nerve pain in the arms and legs, and belly pain, in people with Fabry disease. Participants are 16 or older and have not had Fabry treatment for at least 6 months. The trial lasts 12 months, with visits every 3 months, and compares v…

This study observes 78 adult Fabry disease patients in Taiwan who carry the GLA IVS4 mutation. It looks at how the enzyme replacement therapy agalsidase beta affects heart structure and other symptoms over time. The goal is to better understand the disease and treatment outcomes …

This study follows 31 Chinese adults with a specific genetic mutation (IVS4+919G>A) that causes Fabry disease, a condition that can lead to heart damage. Researchers use advanced heart scans and blood tests to track how the disease progresses over time. The goal is to improve gui…

This study offers parents the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. Researchers aim to screen 100,000 infants in New York hospitals to see how accurate the tests are and how often these conditions o…

This study watches 100 people with Fabry disease who are already taking enzyme replacement therapy as part of their regular care. Researchers want to see how the treatment affects their health over time by checking things like kidney function and pain levels. The study does not t…