FABRY DISEASE

This study looks at how the drug migalastat works in people with Fabry disease who also have severe kidney issues or are on dialysis. About 14 adults will take part to check the drug's safety and how the body processes it. The goal is to make sure the drug is used correctly in th…

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 tests a new medication called venglustat against current standard treatments for Fabry disease. About 104 adults with Fabry disease and an enlarged heart will take part for 18 months. The main goal is to see if venglustat can reduce heart muscle thickness better than u…

This study follows 60 adults with Fabry disease who are either starting or switching to a new enzyme therapy called pegunigalsidase-alfa. Researchers want to see how well it protects kidney function over two years in real-world clinics. The goal is to gather long-term safety and …

This study tests a drug called venglustat to see if it can reduce nerve pain and belly pain in people with Fabry disease. About 122 participants aged 16 and older who have not had treatment for at least 6 months will take the drug or a placebo for 12 months. The main goal is to m…

This study tests 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 exercises using body weight and resistance bands, plus increase daily activity. The goal is to…

This study follows 31 Chinese adults with a specific genetic mutation (IVS4+919G>A) that causes Fabry disease, a condition where harmful substances build up and damage organs, especially the heart. Researchers use advanced heart scans and blood tests to track how the disease prog…

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…

This study looks at Fabry disease patients in Taiwan who have a specific genetic change called GLA IVS4. Researchers will collect information from medical records and patient reports to understand how the disease progresses and how well treatment with agalsidase beta works. About…