A Study of Patients With Fabry Disease (US Specific)

Last updated: February 17, 2026
Sponsor: Amicus Therapeutics
Overall Status: Active - Recruiting

Phase

N/A

Condition

Kidney Disease

Fabry Disease

Treatment

ERT

migalastat HCl

Clinical Study ID

NCT06906367
AT1001-030X
  • Ages > 18
  • All Genders

Study Summary

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.

Eligibility Criteria

Inclusion

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:

  3. a decrease in annualized rate of decline eGFRCKD-EPI of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment

  4. 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

  5. proteinuria (> 0.5 g/g UPCR) any time prior to or at enrollment

  6. 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:

  3. a decrease in annualized rate of decline eGFRCKD-EPI of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment

  4. 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

  5. proteinuria (> 0.5 g/g UPCR) any time prior to or at enrollment

  6. 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:

  3. a decrease in eGFRCKD-EPI annualized rate of decline of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment

  4. 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

  5. proteinuria (> 0.5 g/g UPCR) any time prior to or at enrollment

  6. 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

Study Design

Total Participants: 450
Treatment Group(s): 2
Primary Treatment: ERT
Phase:
Study Start date:
February 13, 2026
Estimated Completion Date:
June 30, 2032

Study Description

This is a prospective, multicenter, observational, effectiveness, safety, and outcomes study enrolling at least 450 patients with Fabry disease globally (at least 250 patients in the migalastat-treated group, approximately 100 patients in the ERT-treated group, and approximately 100 patients in the untreated group [patients who have never been on treatment for Fabry disease]). Enrollment will continue for a period of 5 years and all patients will be followed for up to 5 years after their enrollment.

Disclaimer: This is a global study, the country level requirements may vary from site to site. The requirements noted in this posting are specific to the US.

Connect with a study center

  • UAB Nephrology Research Clinic at Paula Building

    Birmingham 4049979, Alabama 4829764 35233
    United States

    Site Not Available

  • Arkansas Children's Hospital

    Little Rock 4119403, Arkansas 4099753 72202
    United States

    Site Not Available

  • Emory Genetics

    Atlanta, Georgia 30322
    United States

    Site Not Available

  • Emory Genetics

    Atlanta 4180439, Georgia 4197000 30322
    United States

    Active - Recruiting

  • Washington University School of Medicine

    St. Louis, Missouri 63110
    United States

    Site Not Available

  • Washington University School of Medicine

    St Louis 4407066, Missouri 4398678 63110
    United States

    Site Not Available

  • UPMC Children's Hospital of Pittsburgh

    Pittsburgh 5206379, Pennsylvania 6254927 15224
    United States

    Site Not Available

  • Renal Disease Research Institute

    Dallas, Texas 75204
    United States

    Site Not Available

  • Renal Disease Research Institute

    Dallas 4684888, Texas 4736286 75204
    United States

    Active - Recruiting

  • Lysosomal and Rare Disorders Research and Treatment Center, Inc.

    Fairfax, Virginia 22030
    United States

    Site Not Available

  • Lysosomal and Rare Disorders Research and Treatment Center, Inc.

    Fairfax 4758023, Virginia 6254928 22030
    United States

    Active - Recruiting

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