Fabry DiseaseNCT06906367
A Study of Patients With Fabry Disease (US Specific)
An observational study of Fabry Disease, run by Amicus Therapeutics at 8 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry Disease
- What is being tested?
- migalastat HCl and ERT
- How many people
- 450 participants
- Where
- 8 sitesUnited States
- Study dates
- 13 Feb 2026to Jun 2032
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: 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.
Who may be able to join
None listed.
Who cannot join
- 1. Patients who currently are participating in a clinical trial of any investigational medicinal product or device at the time of enrollment
Trial locations and contacts
8 sites in 1 country. Contact the study team or a site near you to ask about taking part.
8 sites in 1 country
United States8 sites, 8 recruiting
- Recruiting
Emory Genetics
Atlanta, Georgia, 30322
- Recruiting
UAB Nephrology Research Clinic at Paula Building
Birmingham, Alabama, 35233
- Recruiting
Renal Disease Research Institute
Dallas, Texas, 75204
- Recruiting
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Fairfax, Virginia, 22030
- Recruiting
Arkansas Children's Hospital
Little Rock, Arkansas, 72202
- Not yet recruiting
New York-Presbyterian Morgan Stanley Children's Hospital - Columbia University Medical Center
New York, New York, 10032
- Recruiting
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
- Recruiting
Washington University School of Medicine
St Louis, Missouri, 63110
About this study
Official title: 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.
Read the 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.
- Conditions
- Fabry Disease
- Being tested
- migalastat HCl, ERT
- Keywords
- migalastat, AT1001, registry, lysosomal disease
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
migalastat HClDrug
Non-interventional study of participants receiving migalastat HCl 150 mg
ERTDrug
Non-interventional study of participants receiving enzyme replacement therapy
| Study group | Role | What they receive |
|---|---|---|
| Migalastat-treated | Migalastat-treated patients at the time of enrollment who started the treatment within the 24 months prior to enrollment. Receives: Drug: migalastat HCl | |
| ERT-treated | Patients receiving ERT at the time of enrollment who started the treatment within the 24 months prior to enrollment. Receives: Drug: ERT | |
| Untreated | 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: Baseline and prospective up to 5 years
Secondary outcomes (17)
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.
Measured: 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.
Measured: 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
Measured: 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)
Measured: Retrospective and prospective up to 5 years
Changes in plasma lyso Gb3
Biomarker of disease
Measured: Retrospective and prospective up to 5 years
Changes in WBC α-Gal A enzyme activity in males
Biomarker of disease
Measured: 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
Measured: 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.
Measured: 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.
Measured: Baseline and prospective up to 5 years
Weekly number of stools of BSS Types 6 and 7 (frequency)
Measured: Baseline and prospective up to 5 years
Number of days per week with at least 1 stool of BSS Type 6 or 7 (consistency)
Measured: 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)
Measured: 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)
Measured: 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
Measured: Baseline and prospective up to 5 years
Occurrence of SAEs
Measured: Baseline and prospective up to 5 years
Overall survival among all patients enrolled
Assessed by recorded patient deaths from any cause
Measured: Baseline and prospective up to 5 years
Number of participants with male infertility
Measured: Baseline and prospective up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Apr 2025
- Study start13 Feb 2026
- Primary completionJun 2032 (estimated)
- Study completionJun 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 450 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Amicus Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Research, Study director, Amicus Therapeutics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06906367
- Sponsor's protocol ID
- AT1001-030X
- Status last verified
- Apr 2026
- First submitted
- 26 Mar 2025
- Last updated
- 9 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- 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.
Study at a glance
From the registry record, last updated by the sponsor on 9 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Observational Study of Patients With Fabry Disease (US Specific)
- ClinicalTrials.gov ID
- NCT06906367
- Acronym / sponsor ID
- AT1001-030X
- Conditions
- Fabry Disease
- Keywords
- migalastat, AT1001, registry, lysosomal disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 450 participants (estimated)
- Lead sponsor
- Amicus TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 13 Feb 2026 (actual)
- Primary completion
- Jun 2032 (estimated)
- Study completion
- Jun 2032 (estimated)
- First posted
- 2 Apr 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Migalastat-treated | – | Drug: migalastat HClMigalastat-treated patients at the time of enrollment who started the treatment within the 24 months prior to enrollment. |
| ERT-treated | – | Drug: ERTPatients receiving ERT at the time of enrollment who started the treatment within the 24 months prior to enrollment. |
| Untreated | – | –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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 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.
Key inclusion criteria (0 listed)
Key exclusion criteria (1 listed)
- 1. Patients who currently are participating in a clinical trial of any investigational medicinal product or device at the time of enrollment
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| migalastat HClNon-interventional study of participants receiving migalastat HCl 150 mg | Drug | Migalastat-treated |
| ERTNon-interventional study of participants receiving enzyme replacement therapy | Drug | ERT-treated |
Primary outcome
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
17 secondary outcomes
Time to the first Fabry-associated clinical event (FACE)
Time frame: Baseline and prospective up to 5 years
Time to the first Fabry-associated clinical event (FACE)
Time frame: Retrospective and prospective up to 5 years
Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR)
Time frame: Retrospective and prospective up to 5 years
Incidence and occurrence of FACE
Time frame: Retrospective and prospective up to 5 years
Changes in plasma lyso Gb3
Time frame: Retrospective and prospective up to 5 years
Changes in WBC α-Gal A enzyme activity in males
Time frame: Retrospective and prospective up to 5 years
Brief Pain Inventory (BPI)-Short Form
Time frame: Baseline and prospective up to 5 years
FABPRO-GI Short Form-v2-stomach pain domain
Time frame: Baseline and prospective up to 5 years
FABPRO-GI Short Form-v2-diarrhea domain
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)
Time frame: Baseline and prospective up to 5 years
HRQOL by using PROs and health preference measures utility (EQ-5D)
Time frame: Baseline and prospective up to 5 years
HRQOL by using PROs and health preference measures utility (TSQM-9)
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
Time frame: Baseline and prospective up to 5 years
Number of participants with male infertility
Time frame: Baseline and prospective up to 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Sep 2026.
- Individual participant dataSharing planned: 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.
Related trials for Fabry Disease
Active, not recruiting
Evaluation of the Effect of a Low-FODMAP Diet on Gastrointestinal Symptoms and Inflammatory Markers in Fabry Patients
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A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
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Therapeutic Implications of CMR Low Native T1 in Non-treated Non-hypertrophic Females With Fabry Disease (FD)
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Fabry Disease Registry & Pregnancy Sub-registry
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A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Clinical Research study director
Amicus Therapeutics
8 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Amicus Therapeutics at 8 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 0 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 9 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Amicus Therapeutics Patient Advocacy (609-662-2000, patientadvocacy@amicusrx.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR) (time frame: Baseline and prospective up to 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Sep 2026.