DRUG
migalastat HCl
Non-interventional study of participants receiving migalastat HCl 150 mg
Status
Recruiting
Phase
Not applicable
Enrollment
450
Locations
8
Results
Not posted
Publications
0
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.
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.
Interventions
DRUG
Non-interventional study of participants receiving migalastat HCl 150 mg
DRUG
Non-interventional study of participants receiving enzyme replacement therapy
Timeline
First posted
Apr 2, 2025
Study start
Feb 13, 2026
Primary completion
Jun 2032
Study completion
Jun 2032
Results posted
Not reported
Registry updated
Jul 10, 2026
Outcomes
Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR)
Time frame · Baseline and prospective up to 5 years
Annualized rate of change in eGFR(CKD-EPI) over time from study enrollment for the comparison between migalastat-treated and untreated patients who have risk factors for eGFR decline
Time to the first Fabry-associated clinical event (FACE)
Time frame · Baseline and prospective up to 5 years
Time to first FACE, which are cardiac, cerebrovascular, and renal events, and death due to FACEs, from enrollment in the study to compare between migalastat-treated and untreated patients.
Time to the first Fabry-associated clinical event (FACE)
Time frame · Retrospective and prospective up to 5 years
Time to first FACE, which are cardiac, cerebrovascular, and renal events, and death due to FACEs, from start of treatment to compare between migalastat-treated and ERT-treated patients.
Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR)
Time frame · Retrospective and prospective up to 5 years
Annualized rate of change in eGFR(CKD-EPI) from start of treatment over time for the comparison between migalastat-treated and ERT-treated patients
Incidence and occurrence of FACE
Time frame · Retrospective and prospective up to 5 years
Incidence and occurrence of FACE will be evaluated overall, and separately by cardiac, cerebrovascular, and renal clinical events (including death in these categories)
Changes in plasma lyso Gb3
Time frame · Retrospective and prospective up to 5 years
Biomarker of disease
Changes in WBC α-Gal A enzyme activity in males
Time frame · Retrospective and prospective up to 5 years
Biomarker of disease
Brief Pain Inventory (BPI)-Short Form
Time frame · Baseline and prospective up to 5 years
A 12-question form using a 10-point scale to allow patients to rate the severity of their pain and the degree to which their pain interferes with common dimensions of feeling and function, along with a question about percentage of pain relief by analgesics
FABPRO-GI Short Form-v2-stomach pain domain
Time frame · Baseline and prospective up to 5 years
Three questions regarding GI signs and symptoms over a 7-day recall period and a Bristol Stool Scale (BSS), providing a pictorial chart and descriptive text for 7 types of stools. Using a 10-point scale, patients will rate the severity of their worst occurrence of stomach pain and diarrhea from 0 (none) to 10 (worst possible). Frequency and consistency of diarrhea will be assessed, as patients will provide the number of stools they have each day of BSS Type 1 through BSS Type 7.
FABPRO-GI Short Form-v2-diarrhea domain
Time frame · Baseline and prospective up to 5 years
Three questions regarding GI signs and symptoms over a 7-day recall period and a Bristol Stool Scale (BSS), providing a pictorial chart and descriptive text for 7 types of stools. Using a 10-point scale, patients will rate the severity of their worst occurrence of stomach pain and diarrhea from 0 (none) to 10 (worst possible). Frequency and consistency of diarrhea will be assessed, as patients will provide the number of stools they have each day of BSS Type 1 through BSS Type 7.
Weekly number of stools of BSS Types 6 and 7 (frequency)
Time frame · Baseline and prospective up to 5 years
Eligibility
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
Study locations
United States. Showing up to 24 locations stored in the fast local snapshot.
UAB Nephrology Research Clinic at Paula Building
Birmingham, Alabama, United States
Arkansas Children's Hospital
Little Rock, Arkansas, United States
Emory Genetics
Atlanta, Georgia, United States
Washington University School of Medicine
St Louis, Missouri, United States
New York-Presbyterian Morgan Stanley Children's Hospital - Columbia University Medical Center
New York, New York, United States
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States
Renal Disease Research Institute
Dallas, Texas, United States
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Fairfax, Virginia, United States
Publications
No PMID-linked publications were present in this registry snapshot.
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