FABRY DISEASE

This study looks at how the drug migalastat works in people with Fabry disease who also have severe kidney issues or are on dialysis. It involves 14 adults and focuses on safety and how the drug moves through the body. The goal is to make sure the right dose is used for these pat…

This study tests an experimental drug called venglustat against usual treatments for Fabry disease in people who also have an enlarged heart. About 104 adults aged 18 to 65 will take part for 18 months, with heart and kidney function measured regularly. The goal is to see if veng…

This study looks at the long-term safety of an oral drug called lucerastat for adults with Fabry disease, a rare genetic disorder. About 107 people who completed a previous 6-month study will take lucerastat for at least 2 years. Researchers will track side effects and, in some m…

This study tests whether the drug venglustat can reduce nerve pain in the arms and legs, and belly pain, in people with Fabry disease. About 122 participants aged 16 and older who have not had Fabry treatment for at least 6 months will take either venglustat or a placebo for 12 m…

This study is testing whether a 12-week physiotherapy and exercise program can improve physical fitness and quality of life in adults with Fabry disease. Fifteen participants will do regular exercise sessions using body weight, resistance bands, and increased daily activity. The …

This study offers parents of newborns in select New York hospitals the option to screen their baby for a panel of rare genetic disorders, beyond standard newborn screening. The goal is to learn how accurate the tests are, how common these conditions are, and whether early diagnos…

This study follows 100 people with Fabry disease who are already receiving enzyme replacement therapy as part of their regular care. Researchers will collect data from routine doctor visits to see how the treatment affects key health markers like kidney function and pain levels. …

This study follows 31 Chinese adults with a specific genetic mutation (IVS4+919G>A) that causes Fabry disease, a condition that can damage the heart and kidneys over time. Researchers will use advanced heart scans and blood tests to track how the disease progresses, even before s…