Actively Recruiting
A Prospective, Observational Study of Patients With Fabry Disease (US Specific)
Led by Amicus Therapeutics · Updated on 2026-05-18
450
Participants Needed
8
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are evaluating the long-term effects of treatments on the effectiveness, safety, and health-related quality of life in patients with Fabry disease, focusing mainly on the drug migalastat. This prospective, observational study will enroll at least 450 patients worldwide, including those treated with migalastat, those receiving enzyme replacement therapy (ERT), and untreated patients. The study is designed to observe these patients over time to better understand disease progression and treatment impacts. Participants are grouped based on their treatment status: those treated with migalastat who started within 24 months before enrollment, those treated with ERT who also started within 24 months before enrollment, and untreated patients who have never been on treatment for Fabry disease but meet criteria for migalastat treatment. The study is non-interventional, meaning it observes patients receiving their usual care without assigning treatments. Enrollment will continue for five years, and each patient will be followed for up to five years after joining. During the study, participants will undergo various assessments, including monitoring kidney function by measuring the annualized rate of change in estimated glomerular filtration rate (eGFR). Researchers will also track clinical events related to Fabry disease, changes in relevant biomarkers, quality of life through patient-reported outcomes, and safety events over the observation period. Data will be collected both retrospectively and prospectively, with a focus on understanding long-term outcomes and treatment effects up to five years.
CONDITIONS
Brief Title
A Study of Patients With Fabry Disease (US Specific)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients aged 18 years or older with Fabry disease and amenable GLA variants
- Patients who started migalastat treatment within 24 months before enrollment or are starting at enrollment
- Patients with enzyme replacement therapy (ERT) started within 24 months before enrollment
- Untreated patients who have never received Fabry disease treatment but meet criteria for migalastat
- Patients with estimated glomerular filtration rate (eGFR) of at least 30 mL/min/1.73 m2 at enrollment
- Patients who show decline in kidney function or other Fabry disease symptoms
- Patients able to understand and provide written informed consent or assent
You will not qualify if you...
- Patients currently participating in any clinical trial of an investigational drug or device at enrollment
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 5 years
Participants are observed over time to collect data on disease progression and treatment outcomes without any intervention assigned by the study.
Regular visits as per routine care for up to 5 years
Trial Site Locations
Total: 8 locations
1
UAB Nephrology Research Clinic at Paula Building
Birmingham, Alabama, United States, 35233
Actively Recruiting
2
Arkansas Children's Hospital
Little Rock, Arkansas, United States, 72202
Actively Recruiting
3
Emory Genetics
Atlanta, Georgia, United States, 30322
Actively Recruiting
4
Washington University School of Medicine
St Louis, Missouri, United States, 63110
Not Yet Recruiting
5
New York-Presbyterian Morgan Stanley Children's Hospital - Columbia University Medical Center
New York, New York, United States, 10032
Not Yet Recruiting
6
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
Not Yet Recruiting
7
Renal Disease Research Institute
Dallas, Texas, United States, 75204
Actively Recruiting
8
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Fairfax, Virginia, United States, 22030
Actively Recruiting
Research Team
A
Amicus Therapeutics Patient Advocacy
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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