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F-CHECK: Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies

Sponsor
Universidade do Porto (Other)
Overall Status
Recruiting
CT.gov ID
NCT05409846
Collaborator
Faculdade de Medicina da Universidade do Porto (FMUP) (Other), Centro Hospitalar De São João, E.P.E. (CHUSJ) (Other), Unidade Local de Saúde de Matosinhos, EPE (Other), Hospital Santa Maria Maior, EPE (Other)
600
Enrollment
1
Location
36
Anticipated Duration (Months)
16.7
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

In Portugal, the prevalence of Fabry disease is largely unknown as recently has been stressed by the Portuguese hypertrophic cardiomyopathy registry investigators.

On the other hand, few data on Fabry screening protocols in patients with compromised ejection fraction including burned-out hypertrophic cardiomyopathy series have been published.

This project intends to perform screening of Fabry disease in patients with distinct cardiomyopathy phenotypes of unknown or dubious etiology and explore the less knew impact of the disease in other cardiac phenotypes.

Condition or Disease Intervention/Treatment Phase
  • Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis

Study Design

Study Type:
Observational
Anticipated Enrollment :
600 participants
Observational Model:
Other
Time Perspective:
Cross-Sectional
Official Title:
Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
Actual Study Start Date :
Mar 15, 2022
Anticipated Primary Completion Date :
Mar 15, 2024
Anticipated Study Completion Date :
Mar 15, 2025

Arms and Interventions

Arm Intervention/Treatment
Group A

Idiopathic hypertrophic cardiomyopathy

Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)
Group B

Idiopathic left ventricle hypertrophy

Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)
Group C

Idiopathic burned-out hypertrophic cardiomyopathy

Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)
Group D

Idiopathic dilated cardiomyopathy

Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)

Outcome Measures

Primary Outcome Measures

  1. Frequency of Fabry Disease in patients with idiopathic cardiomyopathies [12 months]

    Ratio of number of patients with Fabry Disease and total number of idiopathic cardiomyopathies patients

Secondary Outcome Measures

  1. Familiar screening of Fabry Disease [12 months]

    Number of relatives with Fabry Disease

Eligibility Criteria

Criteria

Ages Eligible for Study:
30 Years and Older
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
Inclusion Criteria:
Patients with heart disease diagnosed after the age of 30:

  • unexplained hypertrophic cardiomyopathy (Group A)

  • unexplained left ventricle hypertrophy confirmed in two different examinations using the same or different imaging methods (Group B)

  • unexplained burned-out hypertrophic cardiomyopathy (Group C)

  • unexplained dilated cardiomyopathy with evidence of late gadolinium enhancement involving the basal posterolateral wall segments (Group D)

Exclusion Criteria:

  • previous exclusion of Fabry disease

  • previous identified causal pathogenic/likely pathogenic genetic variant

  • evidence of cardiomyopathy under the age of 30

Contacts and Locations

Locations

Site City State Country Postal Code
1 Centro Hospitalar Universitário São João Porto Portugal

Sponsors and Collaborators

  • Universidade do Porto
  • Faculdade de Medicina da Universidade do Porto (FMUP)
  • Centro Hospitalar De São João, E.P.E. (CHUSJ)
  • Unidade Local de Saúde de Matosinhos, EPE
  • Hospital Santa Maria Maior, EPE

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.
Responsible Party:
Universidade do Porto
ClinicalTrials.gov Identifier:
NCT05409846
Other Study ID Numbers:
  • F-CHECK
First Posted:
Jun 8, 2022
Last Update Posted:
Jun 8, 2022
Last Verified:
May 1, 2022
Studies a U.S. FDA-regulated Drug Product:
No
Studies a U.S. FDA-regulated Device Product:
No
Keywords provided by Universidade do Porto
Idiopathic cardiomyopathies
Additional relevant MeSH terms:
Fabry Disease
Cardiomyopathies

Study Results

No Results Posted as of Jun 8, 2022