Fabry disease

This program provides continued access to lucerastat for people with Fabry disease who were previously enrolled in a clinical trial of this drug. The goal is to allow these patients to keep receiving the treatment after the original study was stopped. It focuses on maintaining tr…

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 follows 75 adults with Fabry disease who are taking or starting pegunigalsidase alfa to see how well it works and how safe it is over time in real-world settings. Researchers will check heart structure and function, kidney health, and exercise capacity. The goal is to …

This study tests the drug migalastat in 8 children aged 2 to 12 with Fabry disease, a rare genetic disorder. The goal is to see if the drug is safe, how it moves through the body, and if it helps protect kidney function. Participants will take the medicine for 12 months.

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 tests a gene therapy called EXG110 in 12 people with Fabry disease. The therapy uses a harmless virus to deliver a working gene that may help the body produce a missing enzyme. The main goal is to check safety and find the right dose, while also looking at how it affec…

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 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 early-stage trial is testing an experimental drug called HM15421/GC1134A in 18 adults with Fabry disease, a rare genetic disorder. The study aims to check the drug's safety, how the body processes it, and whether it can help control the disease. Participants receive the drug…

This early-stage trial is testing a single-dose gene therapy called AMT-191 in 12 adult men with classic Fabry disease. The therapy uses a harmless virus to deliver a working copy of the GLA gene to the liver, so the body can produce the missing enzyme. The main goals are to chec…

This study is testing the safety of Replagal, an enzyme replacement therapy, in 5 Indian children and adults with Fabry disease who have not taken it before. Participants receive an infusion every 2 weeks for about a year. The main goal is to track side effects and serious reacti…

This study investigates how Fabry disease damages the kidneys over time, even before routine tests show problems. Researchers will examine kidney biopsies and function in 50 patients, some of whom receive enzyme replacement therapy. They aim to see if starting treatment earlier o…

This study is looking at whether advanced heart imaging, especially cardiac MRI, can help identify the cause of cardiomyopathy and predict risks like death or heart failure in a diverse group of patients. The research focuses on adults in the Bronx, including many from Hispanic a…

This study follows 450 US adults with Fabry disease who are taking migalastat or enzyme replacement therapy. Researchers will track kidney function, heart and brain events, and quality of life over time to see how well these treatments work in everyday practice.

This study looks at how well people with Anderson-Fabry disease can exercise and how their hearts respond to stress. Researchers will use treadmill tests, echocardiograms, and heart scans to measure heart function during rest and exercise. The goal is to find better ways to detec…

This study looks at gum disease in people with rare kidney disorders like Alport syndrome, Fabry disease, and tuberous sclerosis, as well as lupus. Researchers will compare 100 participants to those with chronic kidney disease and healthy controls. They aim to understand how comm…

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 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 10-year observational registry will follow up to 10 women with Fabry disease who received pegunigalsidase alfa (Elfabrio) around the time of pregnancy or while breastfeeding, along with their infants. Researchers will track pregnancy outcomes, birth defects, and infant healt…

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 follows 40 men with Fabry disease for three years using a small device implanted under the skin that continuously records heart rhythms. The goal is to see how often dangerous heart rhythm problems occur and how they relate to other changes in the heart and body. No ne…

This study uses advanced heart MRI scans to look at blood flow patterns in people with different types of hypertrophic cardiomyopathy (thick heart muscle), including rare forms like Anderson-Fabry disease and cardiac amyloidosis. Researchers will also study first-degree relatives…

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 following 500 people with cerebral small vessel disease (CSVD) to see how their genes affect their brain scans, symptoms, and health over time. Participants get genetic testing and MRI scans at the start and again after 1-2 years. The goal is to better understand th…

Fabry disease is a rare genetic condition that can cause pain, heart and kidney problems, and strokes. This study follows 100 people aged 65 and older with Fabry disease for 5 years, comparing those who receive specific treatment with those who do not. Researchers will measure qu…

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…