FABRY DISEASE

This study tests a new gene therapy, EXG110, for people with Fabry disease, a rare genetic condition. The goal is to see if it is safe and can help control the disease. About 12 people aged 7 and older will receive a single dose of the therapy. Researchers will monitor side effec…

This study tests a drug called migalastat in 8 children aged 2 to 12 with Fabry disease, a rare genetic condition. The goal is to see if the drug is safe and how it works in the body over 12 months. Participants must have a specific genetic change that makes the drug effective.

This study is testing an experimental drug called PRX-102 in children and teens aged 2 to 18 with Fabry disease, a rare genetic condition. 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 the dr…

This study follows about 100 adults with Fabry disease who are taking or planning to take the medication Elfabrio. Researchers will track kidney function, heart health, and disease markers over time to see how safe and effective the drug is in everyday care. The goal is to better…

This study looks at how safe Replagal is for Indian children and adults with Fabry disease, a rare genetic disorder. Five participants who have not taken Replagal before will receive the drug every 2 weeks for about 1 year. The main goal is to track any side effects or serious re…

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 watches how well the enzyme replacement therapy Replagal works for Chinese children and adults with Fabry disease, a rare inherited disorder that causes harmful fat buildup in organs. Researchers will track changes in heart and kidney function, quality of life, and saf…

This early-stage study tests a single dose of a gene therapy called AMT-191 in 12 adult men with classic Fabry disease. The treatment uses a harmless virus to deliver a working copy of the GLA gene, which is faulty in Fabry disease. The main goals are to check safety and how the …

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, …

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 follows 100 people aged 65 and older with Fabry disease for 5 years to see how their quality of life changes, whether they receive specific treatment or not. Researchers will use a standard questionnaire to track health and well-being. The goal is to understand if cont…

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

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 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. No new treatment is being tested; instea…

This study is a worldwide registry that will follow about 10 women with Fabry disease who take the medication pegunigalsidase alfa during pregnancy or while breastfeeding. Researchers will track the health of both mothers and their babies for up to one year after birth. The goal …

This study is a worldwide registry that follows up to 9,000 people with Fabry disease over many years. Its goal is to better understand how the disease progresses and how current treatments work in real life. Participants receive their usual care, and no experimental treatments a…

This study explores whether a special MRI scan (T1 mapping) can detect kidney damage in people with Fabry disease. Researchers will compare MRI results from 70 adults—some with Fabry disease and some without—to see if the scan can measure fibrosis (scarring) in the kidneys. The g…

This study looks at 25 people with Fabry disease to see if a 12-month treatment with agalsidase alfa reduces inflammation in the heart. Participants will get special PET and MRI scans at the start and after one year. The goal is to understand how well the therapy works on heart i…

This study follows 450 adults with Fabry disease to see how well treatments, especially migalastat, work over the long term. Researchers will measure kidney function, track heart and brain events, and check quality of life. Participants are either already taking migalastat or sta…