Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI

NCT04856059 | Recruiting

• 1 other identifier: 21-5167
• Study Type: interventional
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

This study will evaluate whether cardiac MRI T1 and T2 mapping improves our ability to detect early abnormalities in the heart in patients with Fabry disease and identify patients at increase risk of adverse events.

Conditions

Fabry Disease

Keywords

Fabry disease; Fabry cardiomyopathy; cardiac MRI; CMR; T1 mapping; T2mapping

Outcome Measures

Primary Outcomes (1)

• Major Adverse Cardiac Events (MACE)

  MACE will be assessed as a composite endpoint defined by the development on one or more of events such as sustained ventricular tachycardia (VT), severe bradycardia, heart failure hospitalization and cardiac death.

  5 years

Secondary Outcomes (1)

• The FAbry STabilization indEX (FASTEX) score

  3 years

Study Arms (1)

Cardiac MRI, ECG and Blood Biomarkers

OTHER

Additional sequences will be performed during routine clinical cardiac MRI and additional blood samples will be collected during routine blood work.

Diagnostic Test: Cardiac MRI, ECG/Holter and Blood Biomarkers

Interventions

Cardiac MRI, ECG/Holter and Blood Biomarkers DIAGNOSTIC_TEST

Cardiac MRI including T1/T2 mapping, ECG and blood biomarker evaluation will be performed at baseline and follow-up

Cardiac MRI, ECG and Blood Biomarkers

Eligibility Criteria

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

You may qualify if:

• Fabry disease;
• Age ≥ 18 years.

You may not qualify if:

• History of myocardial infarction;
• Contraindication to MRI.

Sponsors & Collaborators

• University Health Network, Toronto: lead
• Vancouver General Hospital: collaborator
• The Cleveland Clinic: collaborator
• IRCCS Policlinico S. Donato: collaborator
• Alberta Health services: collaborator
• Libin Cardiovascular Institute of Alberta: collaborator
• Icahn School of Medicine at Mount Sinai: collaborator
• Vancouver Coastal Health: collaborator

Study Sites (1)

University Health Network

Toronto, Ontario, M5G 2C4, Canada

RECRUITING

MeSH Terms

Conditions

Fabry Disease

Interventions

Electrocardiography, Ambulatory

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

Intervention Hierarchy (Ancestors)

Electrocardiography; Heart Function Tests; Diagnostic Techniques, Cardiovascular; Diagnostic Techniques and Procedures; Diagnosis; Electrodiagnosis; Monitoring, Ambulatory; Monitoring, Physiologic

Study Officials

• Kate Hanneman

  University Health Network, Toronto

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Kate Hanneman

CONTACT

416-323-6400; kate.hanneman@uhn.ca

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: cardiac MRI

Study Record Dates

• First Submitted: April 20, 2021
• First Posted: April 22, 2021
• Study Start: June 15, 2021
• Primary Completion (Estimated): March 31, 2029
• Study Completion (Estimated): March 31, 2029
• Last Updated: April 16, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

CA (1)