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Effect of Migalastat on Cardiac Involvement in Fabry Disease (MAIORA)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT03838237
Recruitment Status : Completed
First Posted : February 12, 2019
Last Update Posted : March 18, 2021
Amicus Therapeutics
Institute of Biomedicine and Molecular Immunology - CNR
Information provided by (Responsible Party):
Antonia Camporeale, Ospedale San Donato

Brief Summary:

Anderson-Fabry Disease (AFD) is one of the rare lysosomal storage disorders for which a cause - specific therapy is available. Recently, a new specific drug has been marketed, namely Migalastat, a small-molecule pharmacological chaperone. The effect of Migalastat on cardiac involvement has been assessed so far by 2D echocardiography, demonstrating a significant reduction in left ventricular (LV) mass after 18 months of therapy. Calculation of LV mass by 2D echocardiography is limited by geometrical assumptions and quality of echocardiographic window, with a strong impact on accuracy. Cardiac Magnetic Resonance (CMR) overcomes these limitations, thus representing the gold standard technique for ventricular mass, volumes and function estimation. Moreover, CMR offers the unique possibility to perform a non-invasive tissue characterization, including the detection of both myocardial fibrosis by Late Gadolinium Enhancement and sphingolipid storage by T1 mapping. Beyond an accurate morphological description and a detailed tissue characterization, a complete cardiological assessment should also integrate functional data and bio-humoral profile.

This study is designed to provide a comprehensive evaluation of the therapeutic effect of Migalastat (123 mg every other day) on cardiac involvement after 18 months of therapy, integrating a morphological, functional and bio-humoral assessment.

Condition or disease Intervention/treatment
Fabry Disease Heart Diseases Diagnostic Test: Cardiological evaluation

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Study Type : Observational
Actual Enrollment : 18 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Effect of Migalastat on Cardiac Involvement in Fabry Disease
Actual Study Start Date : January 10, 2018
Actual Primary Completion Date : January 22, 2021
Actual Study Completion Date : January 22, 2021

Group/Cohort Intervention/treatment
Fabry Disease patients
Patients with genetic diagnosis of Fabry Disease, clinical indication to Migalastat and signs of cardiac involvement (early or advanced) will undergo cardiological evaluation before and 18 months after therapy with Migalastat (123 mg every other day)
Diagnostic Test: Cardiological evaluation

Baseline evaluation

  • FAbry STabilization indEX (FASTEX)
  • 12 leads ECG
  • Blood samples for microRNA, TnT HS and NT-proBNP dosages
  • 2D echocardiogram
  • Cardio-pulmonary test
  • Contrast-enhanced CMR including:

    • Cine images
    • T2 mapping sequences
    • T1 mapping sequences before and 15' after contrast medium administration
    • Late Gadolinium Enhancement (LGE) imaging
    • Phase contrast images (LVOT, aortic flow)

Follow up evaluation

•After 18 months, the same procedures will be repeated

Primary Outcome Measures :
  1. Delta left ventricular mass [ Time Frame: 18 months ]
    Changes in left ventricular mass measured by cardiac magnetic resonance

Secondary Outcome Measures :
  1. Delta native myocardial T1 values [ Time Frame: 18 months ]
    Changes in native myocardial T1 values measured by cardiac magnetic resonance

  2. Delta left ventricular global longitudinal strain [ Time Frame: 18 months ]
    Changes in left ventricular global longitudinal strain measured by cardiac magnetic resonance

  3. Delta 3 plasmatic microRNAs levels [ Time Frame: 18 months ]
    Changes in mir-199a-5p, mir126a-3p, mir-423-5p levels measured by Real-Time quantitative Polymerase Cycle Reaction (RT-qPCR)

Biospecimen Retention:   Samples Without DNA
Blood samples for Troponin T, NT-proBNP and microRNA assay

Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Between patients with genetic diagnosis of AFD referred for CMR at Policlinico San Donato, 15 patients with amenable mutation, clinical indication to Migalastat and signs of early or overt cardiac involvement (low myocardial native T1 value ± left ventricular hypertrophy) will be enrolled.

Inclusion Criteria:

  • Genetic diagnosis of Fabry Disease and amenable mutation
  • Clinical indication to Migalastat
  • Signs of clinical or preclinical cardiac involvement (low T1 values with or without left ventricular hypertrophy)
  • Age >16
  • Ability to give a complete informed consent (for minor patients informed consent will be given by parents)

Exclusion Criteria:

  • Contraindication to Migalastat (pregnancy, age <16, Glomerular Filtration Rate <30 ml/min, hypersensitivity to the active ingredient)
  • Contraindication to CMR study (metallic fragment or foreign body, known claustrophobia, PaceMaker/Implantable Cardioverter Defibrillator not CMR conditional, electronic implant or device, eg, insulin pump or other infusion pump)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03838237

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IRCCS Policlinico San Donato
San Donato Milanese, Milano, Italy, 20097
Sponsors and Collaborators
Ospedale San Donato
Amicus Therapeutics
Institute of Biomedicine and Molecular Immunology - CNR
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Principal Investigator: Antonia Camporeale, MD, PhD IRCCS Policlinico S. Donato

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Responsible Party: Antonia Camporeale, MD, PhD, Ospedale San Donato
ClinicalTrials.gov Identifier: NCT03838237    
Other Study ID Numbers: 148/int/2017
First Posted: February 12, 2019    Key Record Dates
Last Update Posted: March 18, 2021
Last Verified: March 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Antonia Camporeale, Ospedale San Donato:
Fabry Disease
Cardiac Magnetic Resonance
T1 mapping
Additional relevant MeSH terms:
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Fabry Disease
Heart Diseases
Cardiovascular Diseases
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
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders