Condition

• Fabry Disease

Eligibility

Eligible Ages

Over 18 Years

Eligible Sex

All

Accepts Healthy Volunteers

No

Criteria

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

Recruiting Locations

Study Contact

Detailed 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.