Impact of MIgalastat TheRApy on CaRdiac Function in patiEnts With Fabry's Cardiomyopathy (MIRACRE-Fabry Trial)

NCT ID: NCT04639999

Last Updated: 2021-10-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-11-05

Study Completion Date

2025-04-30

Brief Summary

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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.

Detailed Description

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1. 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.
2. 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:
* Changes of extracellular volume by CMR (T1 mapping) at 2 year follow up
* Evaluation of the degree of the resting LV diastolic function
* Evaluation of global and regional LV strain
* Other echo-parameters; LV mass index at baseline, 2 year follow up, reduction of peak exercise E/E prime at 2 year follow up
* Changes of quality of life using questionnaire
* Change of peak VO2, exercise time, AT by diastolic stress echocardiography at 2 year follow up
* Change in T1 baseline (myo, ms) \& T1 baseline (blood, ms) T1 postcontrast (myo, ms) \& T1 baseline (blood, ms) by CMR
3. 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.

Conditions

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Fabry Disease

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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Fabry's disease

Fabry's disease patients who were confirmed by enzyme assay and gene study

Echocardiography

Intervention Type OTHER

LV vortex flow in Echocardiography

Interventions

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Echocardiography

LV vortex flow in Echocardiography

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

1. Patients aged 16 \~ 70 years with Fabry's disease who were confirmed by enzyme assay and gene study
2. Patients who have LV hypertrophy in 2D echocardiography (end diastolic septum and posterior wall thickness ≥12mm) or Patients who present with cardiac changes (indicative of disease progression such as decreased global longitudinal strain on 2D strain echocardiography or low native T1 mapping on cardiac MRI) even without LV wall thickness of ≥12mm
3. Patients provided with the written, informed consent to participate in this study

Exclusion Criteria

1. Contraindication for chaperone therapy (Migalastat)
2. Patients who cannot perform supine bicycle stress echocardiography, contrast echocardiography or cardiac MRI
3. Hemodynamically significant valvular heart disease or arrythmias
4. History of acute myocardial infarction or congestive heart failure with reduced LV ejection fraction of less than 35%
5. CVA in the prior 6 months
6. Scheduled or planned surgery in the next 6 months
7. Chronic liver cirrhosis
8. Allergy to contrast agent (Definity®, Lantheus Medical Imaging, North Billerica, MA, USA)
Minimum Eligible Age

16 Years

Maximum Eligible Age

70 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Yonsei University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Geu-Ru Hong, Ph.D

Role: PRINCIPAL_INVESTIGATOR

Severance Hospital

Locations

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Severance hospital

Seoul, , South Korea

Site Status RECRUITING

Countries

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South Korea

Central Contacts

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Geu-Ru Hong, Ph.D

Role: CONTACT

82+2-2228-8443

Facility Contacts

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Geu-Ru Hong, Ph.D

Role: primary

82+2-2228-8443

Other Identifiers

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4-2020-1038

Identifier Type: -

Identifier Source: org_study_id