Long-term outcomes for adults with Fabry disease on migalastat

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a prospective, multicenter observational registry enrolling at least 450 people with Fabry disease and following them for up to five years after enrollment. Participants will be grouped by treatment: migalastat (≈250), enzyme replacement therapy (≈100), or never-treated (≈100), and data on kidney function, safety events, and health-related quality of life will be collected. Eligible migalastat participants are adults with amenable GLA variants who are starting or recently started commercial migalastat and have eGFR ≥30 mL/min/1.73 m2, with additional clinical criteria for renal decline or proteinuria applied. The study uses routine clinical visits and registry data rather than assigning treatments, allowing real-world effectiveness and safety signals to be observed.

Why it matters

Who can join: the full rules

I. Migalastat-treated patients (Commercial only participants)

1. Patients with Fabry disease 18 years or older with amenable GLA variants who have commenced commercial migalastat treatment within 24 months preceding enrollment, who have an eGFR greater than or equal to 30 mL/min/1.73 m2 at the time of enrollment and are still taking migalastat at the time of enrollment, or who are starting migalastat at the time of enrollment, excluding those who participated in a prior migalastat clinical trial
2. Patients who show a decline in their Fabry disease symptomatology based on any of the following:

   1. a decrease in annualized rate of decline eGFRCKD-EPI of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment
   2. microalbuminuria/macroalbuminuria (≥ 30 mg/24 h or ≥ 20 mg on first morning urine) or urine ACR of ≥ 30 mg/g (via spot urine collection) at any time prior to or at enrollment
   3. proteinuria (\> 0.5 g/g UPCR) any time prior to or at enrollment
   4. males with classic Fabry disease phenotype

II. Migalastat-treated patients who are not considered to be in renal decline (Commercial migalastat users only)

1\. Patients with Fabry disease with amenable GLA variants who have been on commercial migalastat regardless of the duration of treatment

III. Migalastat-treated patients (Prior clinical trial participants)

1. Patients with Fabry disease 18 years or older who had commenced treatment with migalastat while in a clinical trial and were exposed to treatment for at least 24 months preceding enrollment, who have an eGFR greater than or equal to 30 mL/min/1.73 m2 at the time of enrollment, and who are still taking migalastat at the time of enrollment, having switched to commercial product

IV. Untreated patients

1. Patients with Fabry disease 18 years or older with amenable GLA variants, who have never been on treatment for Fabry disease, who have an eGFR greater than or equal to 30 mL/min/1.73 m2 at the time of enrollment, and who meet local treatment guidelines for Fabry disease
2. Patients who show a decline in their Fabry disease symptomatology based on any of the following:

   1. a decrease in annualized rate of decline eGFRCKD-EPI of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment
   2. microalbuminuria/macroalbuminuria (≥ 30 mg/24 h or ≥ 20 mg on first morning urine) or urine ACR of ≥ 30 mg/g (via spot urine collection) at any time prior to or at enrollment
   3. proteinuria (\> 0.5 g/g UPCR) any time prior to or at enrollment
   4. males with classic Fabry disease phenotype

V. ERT-treated patients

1. Patients with Fabry disease 18 years or older who have commenced ERT within 24 months preceding enrollment, who have an eGFR greater than or equal to 30 mL/min/1.73 m2 at the time of enrollment and are still being treated with ERT at the time of enrollment, and who have amenable GLA variants
2. Patients who show a decline in their Fabry disease symptomatology based on any of the following:

   1. a decrease in eGFRCKD-EPI annualized rate of decline of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment
   2. microalbuminuria/macroalbuminuria (≥ 30 mg/24 h or ≥ 20 mg on first morning urine) or urine ACR of ≥ 30 mg/g (via spot urine collection) at any time prior to or at enrollment
   3. proteinuria (\> 0.5 g/g UPCR) any time prior to or at enrollment
   4. males with classic Fabry disease phenotype

All patients 1. All treated and untreated patients with Fabry disease who are enrolled in the study must be able to understand and provide written informed consent or assent.

Exclusion Criteria

1\. Patients who currently are participating in a clinical trial of any investigational medicinal product or device at the time of enrollment

Where it's running

• UAB Nephrology Research Clinic at Paula Building
  Birmingham, Alabama, United States Recruiting
• Arkansas Children's Hospital
  Little Rock, Arkansas, United States Recruiting
• Emory Genetics
  Atlanta, Georgia, United States Recruiting
• Washington University School of Medicine
  St Louis, Missouri, United States Recruiting
• UPMC Children's Hospital of Pittsburgh
  Pittsburgh, Pennsylvania, United States Recruiting
• Renal Disease Research Institute
  Dallas, Texas, United States Recruiting

Study contacts

• Study coordinator: Amicus Therapeutics Patient Advocacy
• Email: patientadvocacy@amicusrx.com
• Phone: 609-662-2000

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.