- completed
Screening test for Fabry disease in patients receiving haemodialysis in England
This study tests whether adults having kidney dialysis in the West Midlands might have an undiagnosed genetic condition called Fabry disease. Researchers collect a small blood spot during routine dialysis. Finding Fabry disease early can help doctors provide specialist treatments and offer genetic checks to family members.
United Kingdom · England - authorisedTherapeutic confirmatory (Phase III)
A multicenter, open-label, single-arm, baseline-controlled trial to assess the efficacy and safety of lucerastat in treatment-naïve/pseudo-naïve adult male participants with Fabry disease
This study tests a medicine called lucerastat for adult men with Fabry disease. Fabry disease causes a fatty substance to build up in the kidneys and blood vessels. Researchers want to see if taking lucerastat for 18 months is safe and helps clear this fat from the kidneys.
Germany · France - recruitingTherapeutic confirmatory (Phase III)
A multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease.
This study looks at a daily oral medicine called lucerastat for adults with Fabry disease. Researchers want to find out how safe the medicine is and how well people tolerate it over a longer time. Everyone who takes part receives the active medicine, with no dummy pills used.
Austria · France · Germany - recruiting
Fabry Disease Registry & Pregnancy Sub-registry
This study tracks the health of people with Fabry disease over time, including pregnant women. It helps doctors better understand the disease and improve care, without giving any new treatments. It's about observing, not experimenting.
United States · Argentina · Australia - recruiting
Protein engineering to design better enzyme replacement therapies for Fabry disease
Researchers are developing new treatments for Fabry disease using AI. This study aims to test these new enzymes in blood and urine samples to see if they cause fewer immune reactions than current treatments. It’s for people with Fabry disease over 16.
United Kingdom · Scotland - authorisedTherapeutic confirmatory (Phase III)
An Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12-month Treatment with Migalastat in Pediatric Subjects (aged 2 to < 12 years) with Fabry Disease and Amenable GLA Variants
This study looks at a medicine called migalastat for children aged 2 to under 12 with Fabry disease. It checks how safe and effective the medicine is over 12 months, focusing on how the body uses it and if it helps with Fabry symptoms.
Spain · Germany · Belgium - active not recruitingPHASE3
A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease
This study is looking into whether a tablet called Venglustat can help reduce nerve pain and tummy pain in people aged 16 and over with Fabry disease. We want to see if it works better than a dummy tablet.
United States · Argentina · Australia - recruitingPHASE3
A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
This study looks at a medicine called Migalastat for children aged 2 to 11 with Fabry disease. It checks if the medicine is safe, how it works in the body, and if it helps children who have a specific type of Fabry disease.
United States · Belgium · Germany - active not recruitingNA
Arrhythmia Burden, Risk of Sudden Cardiac Death and Stroke in Patients With Fabry Disease
This study looks at how often people with Fabry disease have irregular heartbeats, using a small device called an implantable loop recorder. The goal is to better understand these heart issues and find ways to improve treatment and reduce health risks.
Australia · United Kingdom - active not recruitingPHASE3
A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease
This study looks at the long-term safety of a medicine called Lucerastat for adults with Fabry disease. It checks how well people tolerate the medicine and if it helps with kidney problems. This is important for understanding how this treatment works over time.
United States · Australia · Austria - recruiting
Evaluation of HEArt invoLvement in Patients With FABRY Disease
This study looks at people with Fabry disease to understand how their hearts are affected. Researchers want to find out what causes heart rhythm problems, sudden heart failure, and early death, to help improve care for these patients.
Germany - recruiting
National Registry of Rare Kidney Diseases
This registry is collecting information from people with rare kidney diseases across the UK. It aims to improve understanding, create better care guidelines, and help develop new treatments for these conditions. If you have a rare kidney disease, your information could help.
United Kingdom - recruiting
A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients
This study looks at how a medicine called Elfabrio® works and if it's safe for people with Fabry disease in a real-world setting. It watches patients receiving their usual care to understand the treatment better.
United States · Slovenia · United Kingdom - active not recruitingPHASE3
A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease
This study looks at a new tablet treatment called venglustat for people with Fabry disease. It compares venglustat to usual treatments to see how it affects heart thickness in adults with Fabry disease.
United States · Austria · Canada - recruiting
Maternal and Postnatal Outcomes Study (MOS): A Global Observational Registry Assessing the Safety of Elfabrio® in Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
This study looks at the safety of a medicine called Elfabrio for women with Fabry disease during pregnancy and breastfeeding, and for their babies. It checks for any health issues in mums and babies.
United States · Germany · Italy - active not recruitingPHASE3
A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease
This study looks at a drug called migalastat for people with Fabry disease and serious kidney problems. It aims to check its safety and how the body handles it in those with severe kidney issues or who are on dialysis, if their specific Fabry type can be treated with migalastat.
United States · Australia · Japan - recruitingPHASE2, PHASE3
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease
This study is testing a new medicine, PRX-102, for children and teenagers aged 2-17 with Fabry disease. We want to see how safe it is and how well it helps with symptoms like pain and heart or kidney problems.
United States · Austria · France - active not recruiting
Long-Term Follow-up of Subjects Who Were Treated With ST-920
This study is checking on the long-term effects of an investigational medicine called ST-920, used for Fabry disease. It follows people who received ST-920 in an earlier trial, monitoring their health for up to five years after treatment.
United States · Australia · Canada