FABRY DISEASE

This study looks at how safe Replagal is for Indian children and adults with Fabry disease, a rare genetic disorder. Five participants will receive the drug through an IV every 2 weeks for about a year. The main goal is to track any side effects or reactions to the treatment.

This study tests a single-dose gene therapy called AMT-191 in 12 adult men with classic Fabry disease, a rare genetic condition. The main goals are to check if the treatment is safe and to see how it behaves in the body. Participants receive the therapy through an IV, and researc…

This study follows 200 Chinese children and adults with Fabry disease who are receiving Replagal (agalsidase alfa) as part of their regular care. Fabry disease is a rare inherited disorder that causes harmful fat buildup in blood vessels, damaging the heart, kidneys, and brain ov…

This study is a large, long-term registry that collects health information from up to 9000 people with Fabry disease around the world. It does not test any new treatments; instead, it observes how the disease progresses and how current treatments work in real life. The goal is to…

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. The goal is to see how well the drug works in everyday medical care.

This study enrolls 500 people with signs of cerebral small vessel disease (CSVD), a condition affecting tiny blood vessels in the brain. Participants undergo genetic testing and MRI scans to see if their disease is inherited. Researchers will track strokes, dementia, and other ou…

This study follows 40 men with Fabry disease for three years using a small heart monitor implanted 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. The study does not test a new treatment …

This study creates a network of hospitals across Italy to better understand and diagnose rare cerebrovascular diseases (rCVDs) like CADASIL, Fabry disease, and Moyamoya. Researchers will collect health information from 500 patients to describe the diseases' features and natural h…

This study looks at whether a drug called agalsidase alfa can reduce inflammation in the hearts of people with Fabry disease. Researchers will use special heart scans (PET-CMR) to measure inflammation before and after 12 months of treatment. The study involves 25 adults with Fabr…

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