Who may be eligible for the A Study of Patients With Fabry Disease (US Specific) trial?

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

ClinicalTrials.gov record NCT06906367

A Study of Patients With Fabry Disease (US Specific)

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

A Prospective, Observational Study of Patients With Fabry Disease (US Specific)

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

Age18 years old and older

SexAll

LocationUnited States

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a prospective observational study following adults with Fabry disease who are treated with migalastat, receiving enzyme replacement therapy (ERT), or never treated. The study collects medical records, lab and biomarker data, and patient-reported outcomes for up to 5 years after enrollment. Its main focus is on long-term outcomes associated with migalastat use compared with ERT-treated and untreated patients.

What it is studying. The study is testing long-term safety and effectiveness measures in Fabry disease, with a main focus on migalastat. Key questions include change in kidney function (annualized eGFR), time to first Fabry-associated clinical events (cardiac, cerebrovascular, renal events, and related deaths), biomarker changes (for example plasma lyso-Gb3 and white‑blood-cell α‑Gal A activity in males), patient-reported pain, gastrointestinal symptoms, treatment satisfaction (migalastat users), health-related quality of life, and overall survival.

What the researchers hope to learn. To describe long-term safety and effectiveness of migalastat and ERT, track kidney-function trends and Fabry-associated clinical events, measure changes in disease biomarkers, and assess patient-reported symptoms, treatment satisfaction, and health-related quality of life over time.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Drug: migalastat HCl
ERT

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

I. Migalastat-treated patients (Commercial only participants)
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
Patients who show a decline in their Fabry disease symptomatology based on any of the following:
a decrease in annualized rate of decline eGFRCKD-EPI of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment
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
proteinuria (> 0.5 g/g UPCR) any time prior to or at enrollment
males with classic Fabry disease phenotype
II. Migalastat-treated patients who are not considered to be in renal decline (Commercial migalastat users only)
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)
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
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
Patients who show a decline in their Fabry disease symptomatology based on any of the following:
a decrease in annualized rate of decline eGFRCKD-EPI of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment
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
proteinuria (> 0.5 g/g UPCR) any time prior to or at enrollment
males with classic Fabry disease phenotype
V. ERT-treated patients
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
Patients who show a decline in their Fabry disease symptomatology based on any of the following:
a decrease in eGFRCKD-EPI annualized rate of decline of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment
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
proteinuria (> 0.5 g/g UPCR) any time prior to or at enrollment
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

Patients who currently are participating in a clinical trial of any investigational medicinal product or device at the time of enrollment

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is an observational study with up to 5 years of follow-up. Participants will have their medical history and treatment status recorded, provide blood and urine samples for biomarkers (for example plasma lyso‑Gb3 and, in males, WBC α‑Gal A), and complete questionnaires about pain, gastrointestinal symptoms, and quality of life (BPI, FABPRO‑GI, SF‑12, EQ‑5D; TSQM‑9 for migalastat users). The study will collect past medical data where relevant (retrospective records) and record clinical events (cardiac, cerebrovascular, renal) and serious adverse events during prospective follow-up.

How the study is structured. A prospective observational cohort study that follows participants for up to 5 years. Participants are grouped by current treatment status (migalastat-treated, ERT-treated, or untreated). The study uses past medical records for some comparisons and collects ongoing data going forward, including laboratory/biomarker results, clinical event records, and patient questionnaires about symptoms and quality of life.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on Fabry disease

Clinical trials47 trials listed for Fabry diseaseEvery trial the registry lists for Fabry disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Fabry disease researchLatest monthly update: September 2026. Includes: SGLT2 outcome link. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Feb 13, 2026
Primary completion: June 2032 (estimated)
Study completion: June 2032 (estimated)
Target enrollment: 450 participants (estimated)
Last updated on registry: Sep 9, 2026
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: Amicus Therapeutics

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Amicus Therapeutics Patient Advocacy 📞 609-662-2000 ✉ patientadvocacy@amicusrx.com

Participating sites (8)

UAB Nephrology Research Clinic at Paula BuildingRecruiting
Birmingham, Alabama, 35233 · United States
Arkansas Children's HospitalRecruiting
Little Rock, Arkansas, 72202 · United States
Emory GeneticsRecruiting
Atlanta, Georgia, 30322 · United States
Washington University School of MedicineRecruiting
St Louis, Missouri, 63110 · United States
New York-Presbyterian Morgan Stanley Children's Hospital - Columbia University Medical CenterNot Yet Recruiting
New York, New York, 10032 · United States
UPMC Children's Hospital of PittsburghRecruiting
Pittsburgh, Pennsylvania, 15224 · United States
Renal Disease Research InstituteRecruiting
Dallas, Texas, 75204 · United States
Lysosomal and Rare Disorders Research and Treatment Center, Inc.Recruiting
Fairfax, Virginia, 22030 · United States

Terms used on this page · explanations by MedicalUpdates.ai

enrollment: The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
eGFR: A blood-test estimate of how well the kidneys are filtering. Lower numbers mean reduced kidney function; many studies set a minimum value.
clinical trial: A study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
written informed consent: The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
assent: A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
investigational: A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
Exclusion Criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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