NCT04639999

Brief 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.

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
20

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Nov 2020

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

November 5, 2020

Completed
5 days until next milestone

First Submitted

Initial submission to the registry

November 10, 2020

Completed
13 days until next milestone

First Posted

Study publicly available on registry

November 23, 2020

Completed
4.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2025

Completed
3 months until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2025

Completed
Last Updated

October 14, 2021

Status Verified

October 1, 2021

Enrollment Period

4.2 years

First QC Date

November 10, 2020

Last Update Submit

October 5, 2021

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (3)

  • Change of peak exercise E/E' by diastolic stress echocardiography

    2 years

  • Change of global longitudinal strain

    2 years

  • Change of LV vortex flow parameters

    2 years

Secondary Outcomes (10)

  • Changes of extracellular volume by CMR (T1 mapping)

    2 years

  • Evaluation of the degree of the resting LV diastolic function

    2 years

  • Evaluation of global and regional LV strain

    2 years

  • Evaluation of LV mass index

    2 years

  • Evaluation of reduction of peak exercise E/E prime

    2 years

  • +5 more secondary outcomes

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

Patients aged 16 \~ 70 years with Fabry disease confirmed by enzyme assay and gene test

You may qualify if:

  • Patients aged 16 \~ 70 years with Fabry's disease who were confirmed by enzyme assay and gene study
  • 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
  • Patients provided with the written, informed consent to participate in this study

You may not qualify if:

  • Contraindication for chaperone therapy (Migalastat)
  • 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)

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Severance hospital

Seoul, South Korea

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

10cc blood

MeSH Terms

Conditions

Fabry Disease

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 Disorders

Study Officials

  • Geu-Ru Hong, Ph.D

    Severance Hospital

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Geu-Ru Hong, 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

November 10, 2020

First Posted

November 23, 2020

Study Start

November 5, 2020

Primary Completion

January 1, 2025

Study Completion

April 1, 2025

Last Updated

October 14, 2021

Record last verified: 2021-10

Locations

KR(1)