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

NCT02469181 | Unknown

• 1 other identifier: 4-2014-0679
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

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.

Conditions

Fabry's Disease

Outcome Measures

Primary Outcomes (1)

• Changes of peak exercise E(velocity of early)/E'(Early diastolic) by diastolic stress echocardiography

  1 year after the echocardiography

Secondary Outcomes (4)

• 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

Study Arms (1)

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).

Eligibility Criteria

• Age: 16 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Yonsei University: lead

Study Sites (1)

Division of Cardiology, Yonsei Cardiovascular Hospital, Yonsei University College of Medicine

Seoul, 120-752, South Korea

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

Lyso GL-3

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Central Study Contacts

Geu Ru Hong, M.D., Ph.D.

CONTACT

82-2-2228-8443; grhong@yuhs.ac

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 3, 2015
• First Posted: June 11, 2015
• Study Start: May 21, 2015
• Primary Completion: October 1, 2024
• Study Completion: October 1, 2024
• Last Updated: June 24, 2021

Record last verified: 2021-06

Locations

KR (1)