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Effect of Migalastat on Cardiac Involvement in Fabry Disease

NCT03838237 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 18

Last updated 2021-03-18

No results posted yet for this study

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.

Conditions

Interventions

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

Sponsors & Collaborators

  • Amicus Therapeutics

    collaborator INDUSTRY

  • Institute of Biomedicine and Molecular Immunology - CNR

    collaborator UNKNOWN

  • Ospedale San Donato

    lead OTHER

Principal Investigators

  • Antonia Camporeale, MD, PhD · IRCCS Policlinico S. Donato

Eligibility

Min Age
16 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-01-10
Primary Completion
2021-01-22
Completion
2021-01-22

Countries

  • Italy

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03838237 on ClinicalTrials.gov