Clinical trial NCT02469181: Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)
Official title: 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)
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Fabry's Disease
Lead sponsor: Yonsei University
Sponsor class: OTHER
First posted: 2015-06-11
Enrollment: 20
Sex: ALL
Minimum age (years): 16
Maximum age (years): 75
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients aged 16\~75years with Fabry's disease who were confirmed by enzyme assay and gene study

Brief summary: 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: 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

Eligibility criteria: 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)

Primary outcomes:
measure: Changes of peak exercise E(velocity of early)/E'(Early diastolic) by diastolic stress echocardiography
timeFrame: 1 year after the echocardiography
Secondary outcomes:
measure: Change of peak VO2 by diastolic stress echocardiography
timeFrame: 1 year after the echocardiography
measure: Change of peak exercise time by diastolic stress echocardiography
timeFrame: 1 year after the echocardiography
measure: LV(left ventricular) vortex flow analysis by contract echocardiography
timeFrame: 1 year after the echocardiography
measure: Changes of extracellular volume by Cardiac MRI(CMR)
timeFrame: 1 year after the CMR
Other outcomes:
Locations:
city: Seoul
country: Korea, Republic of
facility: Division of Cardiology, Yonsei Cardiovascular Hospital, Yonsei University College of Medicine
Study officials:
References: