Condition

Fabry Disease clinical trials and research

• 34Clinical trials
• 4NIH research projects
• 44Countries

Newest Fabry Disease clinical trials

All recruiting trials (34)

• Lucerastat in untreated adult men with Fabry disease shows how well it works and safety

  This study tests lucerastat to see if it can reduce Gb3 buildup and be safe in untreated adult men with Fabry disease.

  Recruiting Phase 3 Idorsia Pharmaceuticals Ltd. · Birmingham, Alabama and 15 other locations · NCT07778667

• Periodontal Health in Rare Kidney Conditions and Controls

  This study tests how common periodontitis is in people with rare kidney disorders and compares it to CKD patients and people without kidney disease.

  Recruiting Institutul Clinic Fundeni · Bucharest · NCT07575347

• Anderson-Fabry disease fitness improvement program

  This study tests whether a 12-week physiotherapy-led exercise program can improve function, fitness, strength, and quality of life in adults with Fabry disease.

  Recruiting General University Hospital, Prague · Prague · NCT07495410

• Using advanced heart MRI to improve diagnosis and risk prediction for rare cardiomyopathies

  This project tests whether advanced cardiac MRI techniques can help diagnose and predict future risk for people with rare heart muscle diseases like Danon, Fabry, cardiac amyloidosis, Noonan syndrome, and cardiac sarcoidosis.

  Recruiting Chinese Academy of Medical Sciences, Fuwai Hospital · Beijing · NCT07336394

• Quality of life for people 65+ with Fabry disease, treated or untreated

  This project will see if starting or continuing Fabry disease treatment changes quality of life over two and five years in people aged 65 and older.

  Recruiting Groupe Hospitalier Diaconesses Croix Saint-Simon · Paris, France · NCT07277361

• Agalsidase alfa for heart inflammation in Fabry disease measured by PET‑CMR

  This study will test whether agalsidase alfa reduces heart inflammation in people with Fabry disease by comparing PET‑CMR scans before and after 12 months of treatment.

  Recruiting Yonsei University · Seoul · NCT07235709

• Agalsidase alfa (Replagal) enzyme replacement for Chinese children and adults with Fabry disease

  This project will test whether agalsidase alfa (Replagal) helps heart and kidney health in Chinese children and adults with Fabry disease.

  Recruiting at 8 sites Takeda · Hefei, Anhui and 17 other locations · NCT07187440

• Pegunigalsidase Alfa in Fabry Disease: Real‑World Use

  This study tests how pegunigalsidase alfa works and is tolerated in adults with Fabry disease in everyday clinical practice.

  Recruiting at 2 sites Chiesi Farmaceutici S.p.A. · Arezzo and 6 other locations · NCT07109375

• Pregnancy and postpartum outcomes after pegunigalsidase alfa exposure in women with Fabry disease

  This registry will collect information to see how pregnancies and babies do when women with Fabry disease received pegunigalsidase alfa shortly before conception, during pregnancy, or while breastfeeding.

  Recruiting at 4 sites Chiesi Farmaceutici S.p.A. · Washington D.C., District of Columbia and 4 other locations · NCT06941025

• Long-term outcomes for adults with Fabry disease on migalastat

  This project will see if migalastat (compared with enzyme replacement therapy or no treatment) helps adults with Fabry disease maintain kidney function, stay safe, and improve quality of life over several years.

  Recruiting at 7 sites Amicus Therapeutics · Birmingham, Alabama and 7 other locations · NCT06906367

• Migalastat for children aged 2 to <12 with Fabry disease and amenable GLA variants

  This test gives the oral drug migalastat to children aged 2 to <12 who have Fabry disease with GLA variants that respond to the drug to see if it is safe and how it acts in their bodies.

  Recruiting at 11 sites Phase 3 Amicus Therapeutics · Atlanta, Georgia and 11 other locations · NCT06904261

• Identifying patients with cardiomyopathy for potential heart transplantation

  This study is trying to find new ways to identify and understand cardiomyopathy in patients to better predict if they might need a heart transplant in the future.

  Recruiting IRCCS Azienda Ospedaliero-Universitaria di Bologna · Bologna, Emilia-Romagna/Bologna and 2 other locations · NCT06813443

• Registry for understanding cardiovascular issues in Fabry Disease

  This study is trying to learn more about heart problems in people with Fabry Disease to help improve their care and outcomes.

  Recruiting at 15 sites IRCCS Azienda Ospedaliero-Universitaria di Bologna · Chieti, Abruzzo/Chieti and 53 other locations · NCT06806813

• Investigating cardiac issues in Fabry disease

  This study is trying to understand how heart problems in people with Fabry disease are linked to inflammation and damage, using special imaging and blood tests to help improve diagnosis and treatment.

  Recruiting Copenhagen University Hospital, Rigshospitalet · Copenhagen · NCT06776419

• Understanding retinal blood vessel changes in Fabry disease

  This study is trying to see how changes in the tiny blood vessels in the eyes of people with Fabry disease can help predict heart problems and track how well treatments are working.

  Recruiting Technical University of Munich · München, Bavaria · NCT06758648

• Observational study of Elfabrio® in patients with Fabry disease

  This study is testing how safe and effective Elfabrio® is for people with Fabry disease who are currently using or planning to use this treatment.

  Recruiting at 10 sites Chiesi Farmaceutici S.p.A. · Birmingham, Alabama and 9 other locations · NCT06663358

• Evaluating the safety and effectiveness of EXG110 for Fabry disease

  This study is testing a new drug called EXG110 to see if it's safe and effective for people with Fabry disease, including both adults and kids aged 7 and up.

  Recruiting at 2 sites The Children's Hospital of Zhejiang University School of Medicine · Shanghai, Shanghai Municipality and 1 other locations · NCT06539624

• Evaluating the safety and effects of PRX-102 in children and adolescents with Fabry disease

  This study is testing a new treatment called PRX-102 to see if it can safely help children and teenagers with Fabry disease feel better and improve their symptoms.

  Recruiting at 11 sites Phase 2/3 Chiesi Farmaceutici S.p.A. · Phoenix, Arizona and 11 other locations · NCT06328608

• Investigating kidney involvement in Fabry disease using MRI

  This study is testing a new MRI method to see how Fabry disease affects kidney function by looking at oxygen levels in the kidneys compared to healthy individuals.

  Recruiting Copenhagen University Hospital, Rigshospitalet · Copenhagen · NCT06325488

• Gene therapy for classic Fabry disease

  This study is testing a new gene therapy called AMT-191 to see if it can help people with classic Fabry disease by improving their enzyme levels and overall health.

  Recruiting at 10 sites Phase 1/2 UniQure Biopharma B.V. · Birmingham, Alabama and 9 other locations · NCT06270316

• Gene therapy for treating pediatric Fabry disease

  This study is testing a new gene therapy to see if it can improve symptoms and health in children with Fabry disease.

  Recruiting Early Phase 1 Children's Hospital of Fudan University · Shanghai · NCT06207552

• National Registry for Rare Kidney Diseases

  This study is collecting health information from people with rare kidney diseases to help improve treatments and create better care guidelines.

  Recruiting UK Kidney Association · Bristol, South West · NCT06065852

• Evaluating a new treatment for Fabry disease in Japanese patients

  This study is testing a new treatment for Fabry disease in Japanese patients to see if it can help improve their health and quality of life.

  Recruiting at 8 sites Phase 2/3 Chiesi Farmaceutici S.p.A. · Chikushino-shi, Fukuoka and 9 other locations · NCT05710692

• Monitoring Fabry Disease with Biomarkers and Cardiac Imaging

  This study is testing how well heart scans and blood tests can help track the progress of Fabry disease and see how patients respond to treatment.

  Recruiting Mackay Memorial Hospital · Taipei · NCT05698901

• Treatment for adults with Fabry disease and heart issues

  This study is testing a new treatment for adults with Fabry disease and heart problems to see if it is safe and how well it works.

  Recruiting Phase 1/2 4D Molecular Therapeutics · Melbourne and 3 other locations · NCT05629559

• Investigating genetic and non-genetic factors in small vessel disease

  This study is trying to see how genetic and non-genetic factors affect people with small vessel disease in the brain by looking at their symptoms and MRI results over two years.

  Recruiting National Taiwan University Hospital · Taipei · NCT05473637

• Replagal for children and adults with Fabry disease in India

  The study will try giving Replagal every two weeks for about a year to children and adults in India who have Fabry disease to learn more about its safety.

  Recruiting at 2 sites Phase 4 Takeda · Kolkata and 2 other locations · NCT05067868

• Identifying heart issues in Fabry disease using advanced MRI techniques

  This study is testing if advanced MRI techniques can help find heart problems early in people with Fabry disease to improve their treatment and outcomes.

  Recruiting University Health Network, Toronto · Toronto, Ontario · NCT04856059

• Monitoring heart rhythms in patients with Fabry disease

  This study is testing how heart rhythms change over three years in people with Fabry disease using a special heart monitor to see how it relates to their overall heart health.

  Recruiting Institut National de la Santé Et de la Recherche Médicale, France · Paris, Paris · NCT04440254

• Observational study of women with Fabry disease during pregnancy and breastfeeding

  This study looks at how pregnancy and breastfeeding affect women with Fabry disease and their babies, comparing those who have taken a treatment called migalastat to those who haven't.

  Recruiting Amicus Therapeutics · Philadelphia, Pennsylvania · NCT04252066

• Evaluating heart involvement in patients with Fabry disease

  This study looks at patients with Fabry disease to see what factors might lead to heart problems like arrhythmias and heart failure.

  Recruiting Wuerzburg University Hospital · Würzburg, Bavaria · NCT03362164

• Understanding kidney changes in Fabry disease

  This study looks at how kidney problems develop in people with Fabry disease before they start treatment to help understand the disease better and find ways to intervene early.

  Recruiting at 2 sites University of Minnesota · Minneapolis, Minnesota and 1 other locations · NCT01581424

• National registry for Fabry disease in Canada

  This study is setting up a national registry to collect health information from people with Fabry disease in Canada to better understand how the disease progresses and how treatments work.

  Recruiting at 5 sites Canadian Fabry Research Consortium · Calgary, Alberta and 4 other locations · NCT00455104

• Registry for tracking Fabry disease and pregnancy outcomes

  This study is tracking the health of pregnant women with Fabry disease to see how pregnancy affects them and their babies.

  Recruiting at 228 sites Sanofi · Birmingham, Alabama and 283 other locations · NCT00196742

NIH-funded research (4)

Early-stage science funded by the US National Institutes of Health. Most of these projects don't enroll patients, but they show what is being worked on.

• Understanding pain mechanisms in Fabry Disease

  This study is looking into how Fabry Disease causes pain and sensitivity in nerves, using a special rat model to find new ways to help manage pain for people living with this condition.

  NIH research Medical College of Wisconsin · Milwaukee, United States · NIH-11061919

• Understanding pain mechanisms in Fabry disease

  This study is looking at how pain works in people with Fabry disease by using rats to understand why some nerve cells get too sensitive and cause pain, especially when it’s hot, which could help find new ways to relieve pain for those living with this condition.

  NIH research Medical College of Wisconsin · Milwaukee, United States · NIH-10947214

• Testing a new enzyme therapy for Fabry disease

  This study is looking at a new way to give enzyme therapy for Fabry disease that involves a simple shot under the skin, making it easier and less painful for patients compared to regular IV treatments.

  NIH research Kinetiq Therapeutics LLC · Fort Worth, United States · NIH-10919631

• New urine tests to assess kidney health in Fabry disease

  This study is working on a simple urine test to help people with Fabry disease check for kidney damage by looking at important kidney cells and a specific substance, so they can get better care and treatment sooner.

  NIH research University of Washington · Seattle, United States · NIH-10644824

Related topics

Quick answers

How many Fabry Disease clinical trials are recruiting right now?

34, as of November 12, 2026. We update this list each time we refresh our data from ClinicalTrials.gov.

Where are these trials running?

In 44 countries. The most sites are in United States (9 trials), United Kingdom (6 trials), Germany (6 trials), France (5 trials), China (5 trials). Each study page lists its sites and which ones are recruiting.

What phases are they in?

Phase 3: 2, Phase 1/2: 2, Phase 2/3: 2, Early Phase 1: 1. Trials with no phase listed are usually device, behavioural or observational studies.

How do I join one?

Open a study, check the "Is this trial a fit for you?" section, then contact the study team listed on the page. They will ask a few screening questions. Asking is free and does not commit you to anything. Talk it over with your doctor first.

Find the studies that fit you

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