FABRY DISEASE

This 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 condition that can cause pain, organ damage, and other serious problems…

This study follows about 100 adults with Fabry disease who are taking or planning to take the drug Elfabrio. Researchers will watch kidney function, heart health, and side effects over time during routine care. The goal is to see how well the drug works and how safe it is in ever…

This study follows 200 Chinese children and adults with Fabry disease who are receiving routine treatment with Replagal (agalsidase alfa). Researchers will track changes in heart and kidney function, quality of life, and safety over time. The goal is to see how well the enzyme re…

This study is checking how safe the drug Replagal is for people with Fabry disease in India. About 5 children and adults who have not taken Replagal before will get the drug every 2 weeks for a year. The main goal is to track any side effects or reactions.

This study tests a new gene therapy called EXG110 for people with Fabry disease, a genetic condition that causes pain, organ damage, and other serious problems. The goal is to find a safe dose and see if it can help control the disease. About 12 people aged 7 and older with confi…

This study is testing an experimental drug called PRX-102 in children and teens (ages 2 to under 18) with Fabry disease, a rare genetic disorder. The goal is to see if the drug is safe and helps control the disease by replacing a missing enzyme. About 22 participants will receive…

This study tests the safety and effectiveness of migalastat in 8 children aged 2 to under 12 with Fabry disease, a rare genetic disorder. The treatment is taken for 12 months. Researchers will monitor side effects and measure how the drug moves through the body. The goal is to se…

This study tests a new enzyme replacement therapy called pegunigalsidase alfa in Japanese patients with Fabry disease, a rare genetic disorder. About 16 people aged 13 to 70 will receive the treatment to see if it is safe and helps control the disease. The goal is to manage sympt…

This study will use a small, implantable heart monitor to track heart rhythm problems in 40 men with Fabry disease over three years. The goal is to learn how often these problems occur and how they relate to other heart changes seen on scans and blood tests. Participants must hav…

This study watches 450 adults with Fabry disease to see how well treatments, especially migalastat, work over time. Researchers will measure kidney function and track heart, brain, and kidney events. The goal is to understand long-term safety and quality of life.

This study looks at how Fabry disease affects the quality of life of people aged 65 and older. Researchers will follow 100 participants for 5 years, comparing those who receive specific treatment with those who do not. The goal is to understand whether continuing or starting trea…

This study looks at 25 people with Fabry disease, a rare genetic condition that can damage the heart. Participants will take a drug called agalsidase alfa for 12 months. Researchers will use special heart scans (PET-CMR) at the start and after one year to see if the drug reduces …

This study looks at whether special MRI scans can spot early signs of heart damage in people with Fabry disease. Researchers will follow 300 adults with Fabry disease over time to see if these scans help predict serious heart problems like dangerous heart rhythms, heart failure, …

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 whether a special MRI scan (T1 mapping) can help doctors see kidney damage in people with Fabry disease. Researchers will compare MRI results from 70 adults with and without Fabry disease. The goal is to improve how doctors diagnose and monitor kidney problems…

This study is a large, ongoing registry that follows up to 9,000 people with Fabry disease, a rare genetic disorder. It does not test any new treatments but instead collects information from routine doctor visits to better understand how the disease progresses over time. The goal…

This study aims to improve the diagnosis and understanding of rare cerebrovascular diseases (rCVDs) like CADASIL, Fabry disease, and Moyamoya. Researchers will collect detailed health information from 500 participants across Italy to describe the diseases' features and natural hi…

This study enrolls 500 people with brain small vessel disease (CSVD) to see how genetics influence their condition. Participants get genetic testing for five key genes and are followed for at least two years. The goal is to track strokes and dementia, not to test a new treatment.

This study aims to improve how doctors diagnose and predict the course of rare heart muscle diseases (cardiomyopathies) using advanced MRI scans. Researchers will enroll 1000 people with suspected rare cardiomyopathies to test new imaging methods. The goal is to provide clearer, …