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

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)

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.

Study Overview

• Status: Recruiting
• Conditions: Fabry's Disease

Detailed Description

1. 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.

2. 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
3. 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

• Study Type: Observational
• Enrollment (Anticipated): 20

Contacts and Locations

• Study Contact: Name: Geu Ru Hong, M.D., Ph.D.; Phone Number: 82-2-2228-8443; Email: grhong@yuhs.ac

Study Locations

• Korea, Republic of
  • Seoul, Korea, Republic of, 120-752
    • Recruiting
    • Division of Cardiology, Yonsei Cardiovascular Hospital, Yonsei University College of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 75 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients aged 16~75years with Fabry's disease who were confirmed by enzyme assay and gene study

Description

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)

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
FD(Fabry disease) group; 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?

Primary Outcome Measures

Outcome Measure	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	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

Collaborators and Investigators

• Sponsor: Yonsei University

Study record dates

Study Major Dates

• Study Start (Actual): May 21, 2015
• Primary Completion (Anticipated): October 1, 2024
• Study Completion (Anticipated): October 1, 2024

Study Registration Dates

• First Submitted: June 3, 2015
• First Submitted That Met QC Criteria: June 8, 2015
• First Posted (Estimate): June 11, 2015

Study Record Updates

• Last Update Posted (Actual): June 24, 2021
• Last Update Submitted That Met QC Criteria: June 23, 2021
• Last Verified: June 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Heart Diseases; Cardiovascular Diseases; Vascular Diseases; Metabolic Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Cardiomyopathies; Fabry Disease
• Other Study ID Numbers: 4-2014-0679