Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)

Study Overview
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Brief Summary
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The purpose of this study is to evaluate the impact of ERT on LV diastolic function and flow in patients with Fabry's cardiomyopathy using diastolic stress echocardiography, LV vortex flow and CMR.

Detailed Description
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Objectives -The purpose of this study is to evaluate the impact of ERT on LV diastolic function and flow in patients with Fabry's cardiomyopathy using diastolic stress echocardiography, LV vortex flow and CMR. Primary / Secondary Endpoint 1) Primary endpoint Changes of peak exercise E/E' by diastolic stress echocardiography (RECAP-F STRESS trial) and LV vortex flow parameters (RECAP-F FLOW trial) at 1 year follow up. 2) Secondary endpoint Changes of extracellular volume by CMR(T1 mapping) at 1 year follow up (RECAP-F trial) ② Evaluation of the degree of the resting LV diastolic function ③ Other echo-parameters; LV mass index at baseline, 1 year follow up, reduction of peak exercise E/E prime at 1 year follow up Changes of quality of life using questionnaire ⑤ Change of peak VO2, exercise time, AT by diastolic stress echocardiography at 1 year follow up ⑥ Change in T1 baseline(myo, ms) & T1 baseline(blood, ms) T1 postcontrast(myo, ms) & T1 baseline(blood, ms) by CMR Study Methods 1) Study Design : 28 patients with newly diagnosed genetically confirmed Anderson-Fabry's disease will undergo diastolic stress echocardiography, LV vortex flow analysis, and cardiac MRI before enzyme replacement therapy(ERT) (baseline study) and after 1 year of treatment with agalsidese beta at the dose of 1mg/kg (follow-up study). 2) Study procedures : Examinations as described below will be done before ERT and 1 year later

Official Title
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Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy : A Prospective Multi-modality Imaging Study Using Diastolic Stress Echocardiography, LV Vortex Flow and Cardiac MRI(RECAFTURE Trial)

Conditions
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Fabry's Disease

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients aged 16 75 years with Fabry's disease who were confirmed by enzyme assay and gene study All patients should have LV hypertrophy in 2D echocardiography (end diastolic septum and posterior wall thickness ≥12mm) Patients provided with the written, informed consent to participate in this study Exclusion Criteria: Contraindication for agalsidase beta enzyme replacement treatment Patients who cannot perform supine bicycle stress echocardiography, contrast echocardiography or cardiac MRI Hemodynamically significant valvular heart disease or arrythmias History of acute myocardial infarction or congestive heart failure with reduced LV ejection fraction of less than 35% CVA in the prior 6 months Scheduled or planned surgery in the next 6 months Chronic liver cirrhosis Allergy to contrast agent (Definity®, Lantheus Medical Imaging, North Billerica, MA, USA)

Ages Eligible for Study
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Minimum Age: 16 Years
Maximum Age: 75 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| FD(Fabry disease) group<br>28 patients with newly diagnosed genetically confirmed Anderson-Fabry's disease will undergo diastolic stress echocardiography, LV vortex flow analysis, and cardiac MRI before enzyme replacement therapy(ERT) (baseline study) and after 1 year of treatment with agalsidese beta at the dose of 1mg/kg (follow-up study). | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Changes of peak exercise E(velocity of early)/E'(Early diastolic) by diastolic stress echocardiography |  | 1 year after the echocardiography | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change of peak VO2 by diastolic stress echocardiography |  | 1 year after the echocardiography | 
| Change of peak exercise time by diastolic stress echocardiography |  | 1 year after the echocardiography | 
| LV(left ventricular) vortex flow analysis by contract echocardiography |  | 1 year after the echocardiography | 
| Changes of extracellular volume by Cardiac MRI(CMR) |  | 1 year after the CMR |