Fabry disease

This study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…

This study tests a dietary supplement called Cardiol Forte in 50 adults with mildly high cholesterol but low overall heart risk. Participants will take either the supplement or a placebo for 8 weeks, then everyone gets the supplement for another 8 weeks. The goal is to see if it …

This study follows 75 adults with Fabry disease who are taking or starting pegunigalsidase alfa to see how well it works and how safe it is over time in real-world settings. Researchers will check heart structure and function, kidney health, and exercise capacity. The goal is to …

This trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…

This study will interview 35 adults in Sweden who have Fabry disease but are not yet receiving treatment. The goal is to learn how they experience their quality of life, daily activities, and healthcare support. By listening to patients' own stories, researchers hope to identify …

This study will survey 200 adults with Fabry disease to understand how men and women experience different paths to diagnosis. Researchers want to see if symptoms or family screening lead to diagnosis more often in one sex, and how long diagnosis takes. The goal is to identify pat…

This study will test a special PET scan tracer and blood tests to better understand and predict heart damage in people with Fabry disease. Researchers will look at heart tissue samples and blood markers from 20 adult patients. The goal is to find new ways to diagnose and forecast…

This 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …