FABRY DISEASE

This phase 3 study tests whether the experimental drug venglustat can reduce heart muscle thickening (left ventricular hypertrophy) in adults with Fabry disease better than current standard treatments. About 104 participants will receive either venglustat or usual care (agalsidas…

This study looks at the long-term safety of an oral medication called lucerastat for adults with Fabry disease, a rare genetic disorder. People who finished a previous 6-month study can continue taking the drug for up to 2 years. Researchers will monitor side effects and, in a su…

This study looks at the safety and how the body processes the drug migalastat in people with Fabry disease who also have severe kidney disease or are on dialysis. About 14 adults with a specific genetic change that makes them eligible for migalastat will take part. The goal is to…

This study looks at the long-term safety and effectiveness of a drug called pegunigalsidase alfa for adults with Fabry disease, a rare genetic condition. Participants receive the drug through an IV every 4 weeks for an extended period. The goal is to see if the treatment remains …

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 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 been treated for Fabry in the last 6 months will take either venglustat or a placebo for 12…

This study watches 100 people with Fabry disease who are already receiving enzyme replacement therapy as part of their regular care. Researchers will track changes in key markers like lyso-Gb3 levels, kidney function, and nerve pain over time. The goal is to understand how well t…

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…

This study gives parents the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. Researchers will test 100,000 babies born in New York hospitals to see how accurate the screening is and how often these conditions…