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| Name | Class |
|---|---|
| Vancouver General Hospital | OTHER |
| The Cleveland Clinic | OTHER |
| Icahn School of Medicine at Mount Sinai | OTHER |
| IRCCS Policlinico S. Donato |
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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.
Fabry disease is an inherited disorder that affects many organs in the body, including the heart. Men and women are both affected, with average life expectancy reduced by 10-20 years. The heart muscle can become thick and scarred in over half of patients, eventually resulting in heart failure, abnormal rhythm and death. The focus of this study will be on improving the detection of early heart disease before irreversible damage has occurred in order to improve patient outcomes.
It is hypothesized that new cardiac MRI techniques called T1 and T2 mapping will improve the ability to detect early abnormalities in the heart. Early detection of cardiac disease may enable a personalized treatment approach, potentially improving patient outcomes. The results of the study will identify which patients might benefit from early initiation of treatment to prevent bad outcomes in the future by using cardiac MRI to identify those at higher risk.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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 |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| The FAbry STabilization indEX (FASTEX) score | FAbry STabilization indEX (FASTEX) score will be evaluated to assess clinical stability or progression of Fabry disease at follow-up. FASTEX score change of ≥20% will be considered an indication of clinical worsening at follow-up. Minimum value 0%. No maximum value. Higher score change indicates worse outcome. | 3 years |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Kate Hanneman | Contact | 416-323-6400 | 5521 | kate.hanneman@uhn.ca |
| Name | Affiliation | Role |
|---|---|---|
| Kate Hanneman | University Health Network, Toronto | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Health Network | Recruiting | Toronto | Ontario | M5G 2C4 | Canada |
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| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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| ID | Term |
|---|---|
| D015716 | Electrocardiography, Ambulatory |
| ID | Term |
|---|---|
| D004562 | Electrocardiography |
| D006334 | Heart Function Tests |
| D003935 | Diagnostic Techniques, Cardiovascular |
| D019937 | Diagnostic Techniques and Procedures |
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| OTHER |
| Alberta Health services | OTHER |
| Libin Cardiovascular Institute of Alberta | OTHER |
| Vancouver Coastal Health | OTHER_GOV |
cardiac MRI
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| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D003933 | Diagnosis |
| D004568 | Electrodiagnosis |
| D018670 | Monitoring, Ambulatory |
| D008991 | Monitoring, Physiologic |