An observational study in Fabry Disease, sponsored by Amicus Therapeutics. Recruiting at 8 sites in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-10-28.
Sponsored by Amicus Therapeutics (part of BioMarin Pharmaceutical) · Observational
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.
244 studies on the registry are indexed under Fabry Disease; 55 are open to participants now.
This study's planned enrollment of 450 is above the median of 100 across 122 observational studies indexed under Fabry Disease.
Browse Fabry Disease studies →Amicus Therapeutics is the lead sponsor of 42 studies on the registry; 8 are open to participants now.
First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical.
Counted across the registry records on this site, refreshed daily.
Globally, approximately 450 patients with classic and late onset/nonclassic phenotypes of Fabry disease will be enrolled, with approximately 250 patients in the migalastat-treated group, 100 in the ERT-treated group, and approximately 100 patients in the untreated group.
I. Migalastat-treated patients (Commercial only participants)
Patients who show a decline in their Fabry disease symptomatology based on any of the following:
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)
IV. Untreated patients
Patients who show a decline in their Fabry disease symptomatology based on any of the following:
V. ERT-treated patients
Patients who show a decline in their Fabry disease symptomatology based on any of the following:
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 or assent.
Exclusion Criteria
1. Patients who currently are participating in a clinical trial of any medicinal product or device at the time of enrollment
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
GFR and eGFR (kidney filtering)
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Migalastat-treated patients at the time of enrollment who started the treatment within the 24 months prior to enrollment.
Drug: migalastat HCl
Patients receiving ERT at the time of enrollment who started the treatment within the 24 months prior to enrollment.
Drug: ERT
Untreated patients at the time of enrollment; these patients must never have been on therapy for Fabry disease prior to enrollment into the study and must meet criteria for receiving treatment with migalastat.
Non-interventional study of participants receiving migalastat HCl 150 mg
Non-interventional study of participants receiving enzyme replacement therapy
Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR)
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 frame: Baseline and prospective up to 5 years
Time to the first Fabry-associated clinical event (FACE)
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 frame: Baseline and prospective up to 5 years
Time to the first Fabry-associated clinical event (FACE)
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.
Time frame: Retrospective and prospective up to 5 years
Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR)
Annualized rate of change in eGFR(CKD-EPI) from start of treatment over time for the comparison between migalastat-treated and ERT-treated patients
Time frame: Retrospective and prospective up to 5 years
Incidence and occurrence of FACE
Incidence and occurrence of FACE will be evaluated overall, and separately by cardiac, cerebrovascular, and renal clinical events (including death in these categories)
Time frame: Retrospective and prospective up to 5 years
Changes in plasma lyso Gb3
Biomarker of disease
Time frame: Retrospective and prospective up to 5 years
Changes in WBC α-Gal A enzyme activity in males
Biomarker of disease
Time frame: Retrospective and prospective up to 5 years
Brief Pain Inventory (BPI)-Short Form
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
Time frame: Baseline and prospective up to 5 years
FABPRO-GI Short Form-v2-stomach pain domain
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.
Time frame: Baseline and prospective up to 5 years
FABPRO-GI Short Form-v2-diarrhea domain
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.
Time frame: Baseline and prospective up to 5 years
Weekly number of stools of BSS Types 6 and 7 (frequency)
Time frame: Baseline and prospective up to 5 years
Number of days per week with at least 1 stool of BSS Type 6 or 7 (consistency)
Time frame: Baseline and prospective up to 5 years
HRQOL by using PROs and health preference measures utility (SF-12)
Patient-reported health-related quality of life (HRQOL) will be assessed using Short Form-12 (SF-12): An abridged practical version of the 36-item Short Form Health Survey (SF-36), which contains 8 subscales: physical functioning (2 items), role limitations due to physical problems (2 items), bodily pain (1 item), general health perceptions (1 item), vitality (1 item), social functioning (1 item), role limitations due to emotional problems (2 items), and mental health (2 items)
Time frame: Baseline and prospective up to 5 years
HRQOL by using PROs and health preference measures utility (EQ-5D)
Patient-reported health-related quality of life (HRQOL) will be assessed using EuroQol-5D (EQ-5D), a preference-based HRQOL measure with 1 question for each of the 5 dimensions that include mobility, self-care, usual activities, pain/discomfort, and anxiety/depression. The EQ-5D questionnaire also includes a Visual Analog Scale, by which respondents can report their perceived health status with a grade ranging from 0 (the worst possible health status) to 100 (the best possible health status)
Time frame: Baseline and prospective up to 5 years
HRQOL by using PROs and health preference measures utility (TSQM-9)
Patient-reported health-related quality of life (HRQOL) will be assessed using Treatment Satisfaction Questionnaire for Medications-9 (TSQM-9, migalastat-treated patients only): A generic measure of treatment satisfaction for medication which assesses patient perception of effectiveness, side effects, convenience, and global satisfaction
Time frame: Baseline and prospective up to 5 years
Occurrence of SAEs
Time frame: Baseline and prospective up to 5 years
Overall survival among all patients enrolled
Assessed by recorded patient deaths from any cause
Time frame: Baseline and prospective up to 5 years
Number of participants with male infertility
Time frame: Baseline and prospective up to 5 years
Plan to share: Undecided — Data sharing proposals and requests will be reviewed on a case-by-case basis. Requests for data should be addressed to Nick Rees at nrees@amicusrx.com. Requests will be reviewed by a medical steering committee.
No publications or documents are linked to this record.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.