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Completed

NCT Number: NCT04049760

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

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

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Key information

Conditions

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

Age range

12 year–17 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 3

Primary location

Royal Free London NHS Foundation Trust, London, United Kingdom

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

migalastat HCl 150 mg

Drug

migalastat HCl 150 mg capsule

Other names: migalastat, AT1001

Primary outcomes

  1. Incidence of Treatment-emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), and AEs (Adverse Events) Leading to Discontinuation of Study Drug

    Time frame: Entire study

    Number of subjects with TEAE, SAE, and AE leading to discontinuation during the study period

Secondary outcomes

  1. Change From Baseline to Month 24 in Estimated Glomerular Filtration Rate (eGFR)

    Time frame: Baseline, Month 24

    Estimated GFR was calculated using the modified Schwartz formula according to the standards of the central laboratory.

  2. Change From Baseline to Month 24 in Urine Protein Levels

    Time frame: Baseline, Month 24

    Renal function was assessed by urine protein levels (mg/L). Urine samples were collected as part of urinalysis.

  3. Change From Baseline to Month 24 in Urine Albumin

    Time frame: Baseline, Month 24

    Renal function was assessed by urine albumin levels (mg/L). Urine samples were collected as part of urinalysis

  4. Change From Baseline to Month 24 in Left Ventricular Mass Index (LVMi)

    Time frame: Baseline, Month 24

    LVMi was assessed as a measure of cardiac impairment in the study participants. LVMi values for both M-mode and 2D views are presented.

  5. Change From Baseline to Month 24 in Pediatric and Quality of Life Inventory™ (PedsQL™) Scores

    Time frame: Baseline, Month 24

    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.

  6. Change From Baseline to Month 24 in Fabry-Specific Pediatric Health and Pain Questionnaire (FPHPQ) Score for Pain Intensity

    Time frame: Baseline, Month 24

    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.

  7. Number of Subjects Who Experienced Sudden Onset of Pain As Assessed Using the Fabry-Specific Health and Pain Questionnaire (FPHPQ)

    Time frame: Month 24

    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.

  8. Change From Baseline to Month 24 in Plasma Levels of Lyso-Gb3

    Time frame: Baseline, Month 24

    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.

Sponsors and collaborators

Lead sponsor

Amicus Therapeutics

Industry

Registry information

Official study title

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

Important dates

Study start
2019
Primary completion
2024
Study completion
2024
First posted
Aug 8, 2019
Registry last updated
Feb 5, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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