FABRY DISEASE

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 is testing a drug called PRX-102 in 22 children and teens (ages 2 to under 18) with Fabry disease, a rare genetic condition that causes pain and organ damage. The goal is to see if the drug is safe and helps control the disease by replacing a missing enzyme. Participan…

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 tests the safety and effectiveness of the drug migalastat in 8 children aged 2 to 12 with Fabry disease, a rare genetic disorder. The treatment aims to control the disease by helping the body break down certain fats. Participants will take the drug for 12 months, and r…

This study is a worldwide registry that will follow about 10 women with Fabry disease who took the medication 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 …

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

This study follows 40 men with Fabry disease for three years using a small heart monitor placed under the skin. The goal is to see how often heart rhythm problems occur and how they relate to changes seen on heart scans and blood tests. Participants must not have had certain hear…

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…

This study enrolls 500 people with signs of cerebral small vessel disease (CSVD) to see how genetics and MRI brain changes affect future stroke and dementia risk. Participants provide a blood sample for genetic testing and undergo brain scans, then are followed for at least 2 yea…

This study follows 450 adults with Fabry disease to see how well treatments, especially the drug migalastat, work over time. Researchers will measure kidney function, heart and brain events, and quality of life. Participants must have started migalastat within the last two years …