NCT03230591

Brief Summary

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. 25 patients with genetically confirmed Anderson-Fabry disease who have a plan to start ERT with Agalsidase Alfa will undergo 2D strain, diastolic stress echocardiography, LV vortex flow analysis, and CMR at baseline and after 1 year of treatment with ERT with Agalsidase Alfa for follow-up.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
25

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Jul 2017

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

July 12, 2017

Completed
9 days until next milestone

First Submitted

Initial submission to the registry

July 21, 2017

Completed
5 days until next milestone

First Posted

Study publicly available on registry

July 26, 2017

Completed
7.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2025

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2025

Completed
Last Updated

June 24, 2021

Status Verified

June 1, 2021

Enrollment Period

7.5 years

First QC Date

July 21, 2017

Last Update Submit

June 23, 2021

Conditions

Fabry Disease

Keywords

Fabry's diseaseAgalsidase AlfaCardiomyopathyEnzyme replacement therapyDiastolic stress echocardiographyLV vortex flowCardiac MRI

Outcome Measures

Primary Outcomes (2)

  • peak exercise E/E' by diastolic stress echocardiography

    Change from baseline in peak exercise E/E' by diastolic stress echocardiography

    1 year

  • global longitudinal strain

    1 year

Secondary Outcomes (3)

  • extracellular volume by CMR

    1 year

  • evaluation of the degree of the resting LV diastolic function

    1 year

  • quality of life using questionnaire

    1 year

Study Arms (1)

Fabry's disease

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

Other: Echocardiography

Interventions

EchocardiographyOTHER

LV vortex flow in Echocardiography

Fabry's disease

Eligibility Criteria

Age16 Years - 75 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients aged 16 \~ 75 years with Fabry disease confirmed by enzyme assay and gene test

You may qualify if:

  • Patients aged 16\~ 75 years with Fabry disease confirmed by enzyme assay and gene test
  • Patients who have LVH 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 CMR)
  • Patients provided written informed consent to participate in this study

You may not qualify if:

  • Contraindication for enzyme replacement treatment with Agalsidase Alfa
  • Patients who cannot receive supine bicycle stress echocardiography, contrast echocardiography or CMR
  • Patients with hemodynamically significant valvular heart disease or arrhythmias
  • Patients who have history of acute myocardial infarction or congestive heart failure with reduced LV ejection fraction of less than 35%
  • Patients who had any cerebrovascular accident in the prior 6 months
  • Scheduled or planned surgery in the next 6 months
  • Patients with chronic liver cirrhosis
  • Patients who are allergic to contrast agent (e.g. Definity�, Lantheus Medical Imaging, North Billerica, MA, USA)

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

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

Seoul, 03722, South Korea

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

10cc blood

MeSH Terms

Conditions

Fabry DiseaseCardiomyopathies

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesCerebral Small Vessel DiseasesCerebrovascular DisordersVascular DiseasesCardiovascular DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolism, Inborn ErrorsLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism DisordersHeart Diseases

Central Study Contacts

Geu-Ru Hong, MD, Ph.D

CONTACT

82-2-2228-8443grhong@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

July 21, 2017

First Posted

July 26, 2017

Study Start

July 12, 2017

Primary Completion

January 1, 2025

Study Completion

January 1, 2025

Last Updated

June 24, 2021

Record last verified: 2021-06

Locations

KR(1)