FABRY DISEASE

This study tests a drug called PRX-102 (pegunigalsidase alfa) in 22 children and teens aged 2 to 18 with Fabry disease, a rare genetic disorder that causes pain and organ damage. The drug is an enzyme replacement therapy given by infusion every two weeks. Researchers will monitor…

This study is testing a drug called migalastat in 8 children aged 2 to 12 who have Fabry disease, a rare genetic disorder. The goal is to see if the drug is safe and how it works in young bodies. Participants will take the medicine for 12 months, and doctors will monitor side eff…

This study follows about 100 adults with Fabry disease who are taking or planning to take the medication Elfabrio. Researchers will monitor kidney function, heart health, and disease markers over time to see how well the drug works and if any side effects occur. The goal is to un…

This study is testing a drug called pegunigalsidase alfa in about 16 Japanese patients aged 13 to 70 with Fabry disease, a rare genetic disorder. The goal is to see if the drug is safe and how it works in the body. Participants will receive the treatment and be monitored for side…

This study follows 200 Chinese children and adults with Fabry disease who are receiving routine treatment with Replagal (agalsidase alfa). The goal is to see how the therapy affects heart and kidney function over time, as well as quality of life and safety. Participants continue …

This study tests a new gene therapy called EXG110 for people with Fabry disease, a genetic condition that causes pain, organ damage, and other problems. The goal is to see if the treatment is safe and to find the best dose. About 12 people aged 7 and older will receive a single d…

This study looks at how safe Replagal is for children and adults with Fabry disease in India. Five participants will receive the drug every two weeks for about a year. The main goal is to track any side effects or reactions. This is not a cure, but a way to manage the disease.

This early-stage study tests a single-dose gene therapy called AMT-191 in 12 adult men with classic Fabry disease. The goal is to see if the treatment is safe and how it works in the body. Fabry disease is a rare genetic disorder that can cause pain, organ damage, and shorten lif…

This study will follow 40 men with Fabry disease for three years using a small implantable heart monitor. The goal is to detect abnormal heart rhythms and conduction problems that might otherwise go unnoticed. Researchers will also look at how these electrical issues relate to he…

This study enrolls 500 people with signs of cerebral small vessel disease (CSVD), a condition affecting tiny blood vessels in the brain. Participants undergo advanced MRI scans and genetic testing to look for inherited forms of the disease. Researchers will track strokes and deme…

This study is testing whether a special type of cardiac MRI can find early signs of heart damage in people with Fabry disease. Researchers will follow 300 adults with Fabry disease over time, using MRI, ECG, and blood tests to see which patients later develop serious heart proble…

This study follows about 450 adults with Fabry disease in the US to see how well their current treatment (especially migalastat) works over time. Researchers will track kidney function, heart and brain events, and quality of life. No new drugs are tested—just real-world observati…

This study is a worldwide registry that will follow about 10 women with Fabry disease who received the drug pegunigalsidase alfa around the time of pregnancy or while breastfeeding. Researchers will track pregnancy outcomes and infant health for up to one year after birth. The go…

This study looks at how Fabry disease affects the quality of life of people aged 65 and older, both those who receive treatment and those who do not. Researchers will follow 100 participants for 5 years, using a standard quality-of-life questionnaire. The goal is to understand wh…

This study is testing advanced heart MRI scans to better diagnose and predict risks for people with rare heart muscle diseases. Researchers will scan 1000 participants to see if these new imaging methods can identify conditions like Fabry disease and cardiac amyloidosis more accu…

This study is creating a large network of hospitals across Italy to improve the diagnosis and understanding of rare cerebrovascular diseases (rCVDs), such as CADASIL, Fabry disease, and Moyamoya. Researchers will collect medical information and blood samples from 500 patients to …

This study is a long-term registry that collects health information from people with Fabry disease, a rare genetic disorder. It does not test any new treatments; instead, it follows up to 9,000 patients worldwide to better understand how the disease progresses and how current tre…

This study watches 25 people with Fabry disease to see how the drug agalsidase alfa changes heart inflammation over one year. Participants get special heart scans (PET-CMR) at the start and after 12 months of treatment. The goal is to learn if the drug reduces inflammation in the…