A Study of Patients With Fabry Disease (US Specific)

NCT06906367 | Recruiting FDA Drug

• 1 other identifier: AT1001-030X
• Study Type: observational
• Target: 450
• Locations: 1 country
• Sites: 8

Brief 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.

Conditions

Fabry Disease

Keywords

migalastat; AT1001; registry; lysosomal disease

Outcome Measures

Primary Outcomes (1)

• 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

  Baseline and prospective up to 5 years

Secondary Outcomes (17)

• Time to the first Fabry-associated clinical event (FACE)

  Baseline and prospective up to 5 years

• Time to the first Fabry-associated clinical event (FACE)

  Retrospective and prospective up to 5 years

• Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR)

  Retrospective and prospective up to 5 years

• Incidence and occurrence of FACE

  Retrospective and prospective up to 5 years

• Changes in plasma lyso Gb3

  Retrospective and prospective up to 5 years

Study Arms (3)

Migalastat-treated

Migalastat-treated patients at the time of enrollment who started the treatment within the 24 months prior to enrollment.

Drug: migalastat HCl

ERT-treated

Patients receiving ERT at the time of enrollment who started the treatment within the 24 months prior to enrollment.

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.

Interventions

migalastat HCl DRUG

Non-interventional study of participants receiving migalastat HCl 150 mg

Migalastat-treated

ERT DRUG

Non-interventional study of participants receiving enzyme replacement therapy

ERT-treated

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may not qualify if:

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

Sponsors & Collaborators

• Amicus Therapeutics: lead

Study Sites (8)

UAB Nephrology Research Clinic at Paula Building

Birmingham, Alabama, 35233, United States

NOT YET RECRUITING

Arkansas Children's Hospital

Little Rock, Arkansas, 72202, United States

RECRUITING

Emory Genetics

Atlanta, Georgia, 30322, United States

RECRUITING

Washington University School of Medicine

St Louis, Missouri, 63110, United States

NOT YET RECRUITING

New York-Presbyterian Morgan Stanley Children's Hospital - Columbia University Medical Center

New York, New York, 10032, United States

NOT YET RECRUITING

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

NOT YET RECRUITING

Renal Disease Research Institute

Dallas, Texas, 75204, United States

RECRUITING

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Fairfax, Virginia, 22030, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood, plasma, and urine

MeSH Terms

Conditions

Fabry Disease

Interventions

migalastat

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Clinical Research

  Amicus Therapeutics

  STUDY DIRECTOR

Central Study Contacts

Amicus Therapeutics Patient Advocacy

CONTACT

609-662-2000; patientadvocacy@amicusrx.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 26, 2025
• First Posted: April 2, 2025
• Study Start: February 13, 2026
• Primary Completion (Estimated): June 1, 2032
• Study Completion (Estimated): June 1, 2032
• Last Updated: April 28, 2026

Record last verified: 2026-04

Locations

US (8)