Fabry disease

This study looked at the long-term safety and effectiveness of a drug called pegunigalsidase alfa for adults with Fabry disease, a rare genetic condition. Participants received an infusion every four weeks for up to several years. The goal was to see if the drug is safe over time…

This study followed 26 people with Anderson-Fabry disease, some taking the enzyme replacement drug Replagal® and some not, to see how their hearts changed over two years. Researchers used special MRI scans to measure heart tissue relaxation time, which may indicate early damage. …

This trial tested a new gene therapy called ST-920 for Fabry disease, a rare genetic condition. The therapy uses a harmless virus to deliver a working gene that helps the body produce an enzyme it's missing. 36 adults with Fabry disease received a single intravenous dose and were…

This study looked at the long-term safety of pegunigalsidase alfa, an enzyme replacement therapy, in 97 adults with Fabry disease. Participants received the drug intravenously every two weeks for up to several years. The main goal was to track side effects and see how well the dr…

This phase 3 trial tested a new version of the drug agalsidase beta (AGA BETA BS) in 20 people with Fabry disease who were already stable on the standard drug Fabrazyme. Participants switched to the new drug for 54 weeks to see if it worked just as well. The main goal was to keep…

This study looked at the long-term safety of a drug called migalastat in 16 people over age 12 with Fabry disease, a rare genetic disorder. Participants had already completed an earlier study and continued taking migalastat to see if it was safe and how it affected kidney functio…

This study tested whether giving Fabrazyme, a lifelong enzyme replacement therapy for Fabry disease, at a faster infusion rate is safe and tolerable. Eight patients who had been on Fabrazyme without recent reactions participated. The goal was to see if shortening infusion time co…

This study tested the safety and effectiveness of Fabrazyme (agalsidase beta) in 22 Chinese patients with Fabry disease, a rare genetic disorder. Participants received enzyme replacement therapy through IV infusions over 54 weeks. The study monitored side effects and changes in d…

This study tested whether a special MRI scan called T1 mapping can detect kidney damage in people with Fabry disease, a rare genetic disorder. Researchers compared MRI results from 70 adults with and without Fabry disease. The goal was to see if this non-invasive scan could help …

This study tested 776 people with chronic pain of unknown cause to see if they had Fabry disease, a rare inherited disorder that can cause pain, kidney, heart, and nerve problems. Researchers used enzyme tests in men and genetic tests in women to find cases. The goal was to see h…

This study looked at how blood vessel function relates to heart blockage in people with a genetic heart condition called hypertrophic cardiomyopathy. Researchers measured blood flow and vessel flexibility in 40 adults. The goal was to understand the connection, not to test a trea…

This study tested 137 people with chronic pain of unknown cause to see if they had Fabry disease, a rare genetic disorder. Researchers used blood tests to check for the condition. The goal was to find out how common Fabry disease is in this group and help diagnose it earlier.

This study collected information from over 15,000 people hospitalized with cardiomyopathy, a heart muscle disease. Researchers looked at how much these hospital stays cost and what the money was spent on. The goal was to understand the real-world financial impact and help manage …

This completed study monitored 100 adults with Fabry disease using a wearable device and questionnaires to measure physical activity, sleep, and quality of life. The goal was to understand how daily movement and rest relate to anxiety, depression, and overall well-being. No treat…

This study aims to develop a computer algorithm that can detect Fabry disease earlier by analyzing hospital electronic health records. Researchers will look at data from the past 10 years to see if they can identify patients with Fabry disease using a ranking system. No drugs or …

This study checked in on 5 adults with Fabry disease who had been taking enzyme replacement therapy (ERT) since childhood for about 15 years. Researchers measured kidney function and heart health to see how well the long-term treatment worked. The goal was to gather follow-up dat…

This completed study looked at how much time healthcare professionals spend preparing and giving enzyme replacement therapy (ERT) to adults with Fabry disease. It also measured the impact on patients and their caregivers, including time, costs, and quality of life. The goal was t…

This early study tested whether a new version of the enzyme replacement drug agalsidase beta (made by Biosidus) works similarly to the approved drug Fabrazyme. Twenty-four healthy men received a single infusion of one of the two drugs. Researchers measured how the drug moved thro…

This study looked for Fabry disease, a rare genetic disorder, in 409 Portuguese adults with unexplained heart muscle diseases. Researchers tested patients with different types of cardiomyopathy to see how many actually had Fabry disease. The goal was to better understand how comm…