Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease

A Long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants

This is a long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants

Study Overview

• Status: Completed
• Conditions: Fabry Disease
• Intervention / Treatment: Drug: migalastat HCl 150 mg

• Study Type: Interventional
• Enrollment (Actual): 16
• Phase: Phase 3

Contacts and Locations

Study Locations

• United Kingdom
  • London, United Kingdom
    • Royal Free London NHS Foundation Trust
• United States
  • Florida
    • Tampa, Florida, United States, 33606
      • University of South Florida
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • The Emory Clinic
  • Minnesota
    • Minneapolis, Minnesota, United States, 55454
      • University of Minnesota Masonic Children's Hospital and Clinics
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Cincinnati Children's Hospital
  • Virginia
    • Fairfax, Virginia, United States, 22030
      • Lysosomal & Rare Disorders Research & Treatment Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years to 13 years (Child)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Male or female subjects diagnosed with Fabry disease > 12 years of age who completed Study AT1001-020
• Subject's parent or legally-authorized representative is willing and able to provide written informed consent and authorization for use and disclosure of personal health information or research-related health information, and subject provides assent, if applicable
• If of reproductive potential, both male and female subjects agreed to use a medically accepted method of contraception throughout the duration of the study and for up to 30 days after their last dose of migalastat

Exclusion Criteria:

• Subject's last available estimated glomerular filtration rate (eGFR) in the previous study was < 60 mL/min/1.73 m2
• Subject had advanced kidney disease requiring dialysis or kidney transplantation
• Subject received any investigational/experimental drug, biologic, or device within 30 days before baseline, with the exception of migalastat
• Subject anticipated starting gene therapy during the study period
• Subject had any intercurrent illness or condition at Visit 1 that may have precluded the subject from fulfilling the protocol requirements or suggested to the investigator that the potential subject may have an unacceptable risk by participating in this study
• Subject had a history of allergy or sensitivity to migalastat (including excipients) or other iminosugars (eg, miglustat, miglitol)
• Subject required treatment with Replagal® (agalsidase alfa) or Fabrazyme® (agalsidase beta)
• Subject required treatment with Glyset® (miglitol) or Zavesca® (miglustat)
• Female subject was pregnant or breast-feeding, or was planning to become pregnant during the study period
• In the opinion of the investigator, the subject and/or parent or legally-authorized representative was unlikely or unable to comply with the study requirements

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: migalastat HCl 150 mg; One migalastat 123 mg capsule equivalent to 150 mg migalastat HCl will be administered every other day (QOD) during the treatment period.	Drug: migalastat HCl 150 mg; migalastat HCl 150 mg capsule; Other Names: AT1001; migalastat

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incidence of Treatment-emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), and AEs (Adverse Events) Leading to Discontinuation of Study Drug	Number of subjects with TEAE, SAE, and AE leading to discontinuation during the study period	Entire study

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change From Baseline to Month 24 in Estimated Glomerular Filtration Rate (eGFR)	Estimated GFR was calculated using the modified Schwartz formula according to the standards of the central laboratory.	Baseline, Month 24
Change From Baseline to Month 24 in Urine Protein Levels	Renal function was assessed by urine protein levels (mg/L). Urine samples were collected as part of urinalysis.	Baseline, Month 24
Change From Baseline to Month 24 in Urine Albumin	Renal function was assessed by urine albumin levels (mg/L). Urine samples were collected as part of urinalysis	Baseline, Month 24
Change From Baseline to Month 24 in Left Ventricular Mass Index (LVMi)	LVMi was assessed as a measure of cardiac impairment in the study participants. LVMi values for both M-mode and 2D views are presented.	Baseline, Month 24
Change From Baseline to Month 24 in Pediatric and Quality of Life Inventory™ (PedsQL™) Scores	The Pediatric Quality of Life Inventory (PedsQL™) was a modular approach to measuring health-related quality of life (QoL) in healthy children and adolescents and those with acute and chronic health conditions. All components of the PedsQL were scored based on a scale of 0 (never) to 4 (almost always) and linearly transformed to a 0 to 100 scale as follows: 0 = 100, 1 = 75, 2 = 50, 3 = 25, 4 = 0. Psychosocial, physical, and total scores were calculated based on the response to the questions within the patient reported outcome. The psychosocial score for the PedsQL encompassed 15 questions relating to the subjects' feelings, social interaction with others, and school. The physical score was derived from answers to 8 questions about the subjects' ease of managing physical activity. Total scores were the sum of all the item scores over the number of items answered on all the scales. Change from baseline values of <0 represents worsening, 0 equals no change, and >0 represents improvement.	Baseline, Month 24
Change From Baseline to Month 24 in Fabry-Specific Pediatric Health and Pain Questionnaire (FPHPQ) Score for Pain Intensity	The Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ) included questions about Fabry disease-specific symptoms. The assessment of "How bad is your pain today?" was measured on a 10- point scale from 0 (no pain) to 10 (pain as bad as you can imagine). A decrease from baseline indicates an improvement in the condition.	Baseline, Month 24
Number of Subjects Who Experienced Sudden Onset of Pain As Assessed Using the Fabry-Specific Health and Pain Questionnaire (FPHPQ)	Subjects were asked "In the last 3 months how many times did you experience sudden onset of pain?" and responses were reported in the FPHPQ. Responses were categorized as 0, 1 to 3, 4 to 6, and > 6 occurrences of sudden onset of pain.	Month 24
Change From Baseline to Month 24 in Plasma Levels of Lyso-Gb3	Blood samples were collected for measurement of lyso-Gb3 levels in plasma. Plasma levels of lyso-Gb3 were measured using a validated liquid chromatography-mass spectrometry assay.	Baseline, Month 24

Collaborators and Investigators

• Sponsor: Amicus Therapeutics

Study record dates

Study Major Dates

• Study Start (Actual): October 11, 2019
• Primary Completion (Actual): November 29, 2024
• Study Completion (Actual): November 29, 2024

Study Registration Dates

• First Submitted: July 30, 2019
• First Submitted That Met QC Criteria: August 6, 2019
• First Posted (Actual): August 8, 2019

Study Record Updates

• Last Update Posted (Actual): February 5, 2026
• Last Update Submitted That Met QC Criteria: January 19, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: migalastat; Lysosomal disease
• Additional Relevant MeSH Terms: Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Lipid Metabolism Disorders; Genetic Diseases, X-Linked; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Sphingolipidoses; Lipidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Fabry Disease; migalastat; larazotide acetate
• Other Study ID Numbers: AT1001-036; 2019-000222-21 (EudraCT Number)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No