Observes long-term effects of treatments in people with Fabry disease
Follows adults with Fabry disease treated with migalastat or enzyme replacement therapy.
Plain-language title generated from the registry record
Registry title: A Study of Patients With Fabry Disease (US Specific)
Key facts
- Where
- Atlanta, Birmingham, Dallas, Fairfax, Little Rock, New York, Pittsburgh, and St Louis, United StatesSee the 8 sites
Where in United States
- Emory GeneticsAtlanta, United StatesTaking people
- UAB Nephrology Research Clinic at Paula BuildingBirmingham, United StatesTaking people
- Renal Disease Research InstituteDallas, United StatesTaking people
- Lysosomal and Rare Disorders Research and Treatment Center, IncFairfax, United StatesTaking people
- Arkansas Children's HospitalLittle Rock, United StatesTaking people
- New York-Presbyterian Morgan Stanley Children's Hospital - Columbia University Medical CenterNew York, United StatesNot yet recruiting
- UPMC Children's Hospital of PittsburghPittsburgh, United StatesTaking people
- Washington University School of MedicineSt Louis, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Amicus Therapeutics
- Trial code
- NCT06906367
- Record updated
- 28 October 2026
- Original description
This is an observational study to evaluate the effects of treatment on long-term effectiveness, safety, and health-related quality of life (HRQOL) in patients with Fabry disease, with a main focus on migalastat.Read full original descriptionShow less
A Prospective, Observational Study of Patients With Fabry Disease (US Specific)
This is an observational study to evaluate the effects of treatment on long-term effectiveness, safety, and health-related quality of life (HRQOL) in patients with Fabry disease, with a main focus on migalastat.
Exclusion: Patients who currently are participating in a clinical trial of any investigational medicinal product or device at the time of enrollment.
Migalastat-treated patients (Commercial only participants); 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; Patients who show a decline in their Fabry disease symptomatology based on any of the following:; a decrease in annualized rate of decline eGFRCKD-EPI of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment; 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; proteinuria (> 0.5 g/g UPCR) any time prior to or at enrollment; males with classic Fabry disease phenotype; Migalastat-treated patients who are not considered to be in renal decline (Commercial migalastat users only); Patients with Fabry disease with amenable GLA variants who have been on commercial migalastat regardless of the duration of treatment; Migalastat-treated patients (Prior clinical trial participants); 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; Untreated patients; 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; Patients who show a decline in their Fabry disease symptomatology based on any of the following:; a decrease in annualized rate of decline eGFRCKD-EPI of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment; 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; proteinuria (> 0.5 g/g UPCR) any time prior to or at enrollment; males with classic Fabry disease phenotype; ERT-treated patients; 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; Patients who show a decline in their Fabry disease symptomatology based on any of the following:; a decrease in eGFRCKD-EPI annualized rate of decline of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment; 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; proteinuria (> 0.5 g/g UPCR) any time prior to or at enrollment; 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.