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

Fabry Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04639999
• Other study ID #: 4-2020-1038
• Status: Recruiting
• Start date: November 5, 2020
• Est. completion date: April 2025

Study information

• Verified date: October 2021
• Source: Yonsei University
• Contact: Geu-Ru Hong, Ph.D
• Phone: 82+2-2228-8443
• Email: grhong[@]yuhs.ac
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Description:

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: April 2025
• Est. primary completion date: January 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 16 Years to 70 Years

Eligibility

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)

Related Conditions & MeSH terms

• Cardiomyopathies
• Fabry Disease

Intervention

Other:
• Echocardiography
LV vortex flow in Echocardiography

Locations

Country	Name	City	State
Korea, Republic of	Severance hospital	Seoul

Sponsors (1)

Lead Sponsor	Collaborator
Yonsei University

Country where clinical trial is conducted

Korea, Republic of, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change of peak exercise E/E' by diastolic stress echocardiography		2 years
Primary	Change of global longitudinal strain		2 years
Primary	Change of LV vortex flow parameters		2 years
Secondary	Changes of extracellular volume by CMR (T1 mapping)		2 years
Secondary	Evaluation of the degree of the resting LV diastolic function		2 years
Secondary	Evaluation of global and regional LV strain		2 years
Secondary	Evaluation of LV mass index		2 years
Secondary	Evaluation of reduction of peak exercise E/E prime		2 years
Secondary	Changes of quality of life using Short Form 36		2 years
Secondary	Change of peak VO2 by diastolic stress echocardiography		2 years
Secondary	Change of exercise time by diastolic stress echocardiography		2 years
Secondary	Change of AT by diastolic stress echocardiography		2 years
Secondary	Change in T1 baseline (myo, ms) & T1 baseline (blood, ms) T1 postcontrast (myo, ms) & T1 baseline (blood, ms) by CMR		2 years