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This is an observational study. No treatment or intervention will be assigned to the subjects. All patients will receive full standard of care concomitant medication for the treatment of their cardiac condition. 20 patients with genetically confirmed Anderson-Fabry disease who have a plan to start Migalastat will undergo 2D strain, diastolic stress echocardiography, LV vortex flow analysis, and CMR at baseline and after 2 year of treatment with Migalastat for follow-up.
Objectives - to evaluate the impact of chaperone therapy on LV diastolic function and flow in patients with Fabry's cardiomyopathy using LV 2D strain, diastolic stress echocardiography, LV vortex flow and CMR.
Primary/Secondary Endpoint
A. Primary endpoint:
- Change of peak exercise E/E' by diastolic stress echocardiography, global longitudinal strain and LV vortex flow parameters at 2 year follow up.
B. Secondary endpoints:
Study Methods -Study Design: This is an observational study. No treatment or intervention will be assigned to the subjects. All patients will receive full standard of care concomitant medication for the treatment of their cardiac condition. 20 patients with genetically confirmed Anderson-Fabry disease who have a plan to start Migalastat will undergo 2D strain, diastolic stress echocardiography, LV vortex flow analysis, and CMR at baseline and after 2 year of treatment with Migalastat for follow-up.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Fabry's disease | Fabry's disease patients who were confirmed by enzyme assay and gene study |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Echocardiography | Other | LV vortex flow in Echocardiography |
|
| Measure | Description | Time Frame |
|---|---|---|
| Change of peak exercise E/E' by diastolic stress echocardiography | 2 years | |
| Change of global longitudinal strain | 2 years | |
| Change of LV vortex flow parameters | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Changes of extracellular volume by CMR (T1 mapping) | 2 years | |
| Evaluation of the degree of the resting LV diastolic function | 2 years | |
| Evaluation of global and regional LV strain |
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Inclusion Criteria:
Exclusion Criteria:
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Patients aged 16 ~ 70 years with Fabry disease confirmed by enzyme assay and gene test
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Geu-Ru Hong, Ph.D | Contact | 82+2-2228-8443 | grhong@yuhs.ac |
| Name | Affiliation | Role |
|---|---|---|
| Geu-Ru Hong, Ph.D | Severance Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Severance hospital | Recruiting | Seoul | South Korea |
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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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10cc blood
| 2 years |
| Evaluation of LV mass index | 2 years |
| Evaluation of reduction of peak exercise E/E prime | 2 years |
| Changes of quality of life using Short Form 36 | 2 years |
| Change of peak VO2 by diastolic stress echocardiography | 2 years |
| Change of exercise time by diastolic stress echocardiography | 2 years |
| Change of AT by diastolic stress echocardiography | 2 years |
| Change in T1 baseline (myo, ms) & T1 baseline (blood, ms) T1 postcontrast (myo, ms) & T1 baseline (blood, ms) by CMR | 2 years |
| 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 |