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

Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies

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.

Study Overview

• Status: Completed
• Conditions: Fabry Disease
• Intervention / Treatment: Diagnostic test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis

• Study Type: Observational
• Enrollment (Actual): 409

Contacts and Locations

Study Locations

• Portugal
  • Coimbra, Portugal, 3000-602
    • Centro Hospitalar Universitario de Coimbra
  • Lisbon, Portugal, 1500-650
    • Hospital da Luz, Lisboa
  • Lisbon, Portugal, 1600-190
    • Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
  • Matosinhos Municipality, Portugal, 4464-513
    • Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)
  • Penafiel, Portugal, 4564-007
    • Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
  • Porto, Portugal, 4200-319
    • Faculty of Medicine (FMUP)
  • Porto, Portugal, 4099-001
    • Centro Hospitalar Universitário de Santo António
  • Porto, Portugal, 4200-319
    • Centro Hospitalar Universitario Sao Joao, E.P.E.
  • Santa Maria da Feira, Portugal, 4520-220
    • Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
  • Vila Nova de Gaia, Portugal, 4434-502
    • Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
  • Vila Real, Portugal, 5000-508
    • Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 30 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Idiopathic cardiomyopathy patients

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort	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)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Frequency of Fabry Disease in patients with idiopathic cardiomyopathies	Ratio of number of patients with Fabry Disease and total number of idiopathic cardiomyopathies patients	12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Familiar screening of Fabry Disease	Number of relatives with Fabry Disease	12 months

Collaborators and Investigators

• Sponsor: Universidade do Porto
• Collaborators: Hospital da Luz, Lisboa; Hospital Pedro Hispano; Centro Hospitalar De São João, E.P.E.; Centro de Investigação em Tecnologias e Serviços de Saúde; Centro Hospitalar Universitário de Coimbra; Centro Hospitalar Universitário de Santo António; Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo; Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.; Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria; Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião; Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.; Rede de Investigação em Saúde
• Investigators: Principal Investigator: Elisabete Martins, MD, PhD, Universidade do Porto

Study record dates

Study Major Dates

• Study Start (Actual): April 15, 2022
• Primary Completion (Actual): January 1, 2025
• Study Completion (Actual): April 15, 2025

Study Registration Dates

• First Submitted: June 3, 2022
• First Submitted That Met QC Criteria: June 3, 2022
• First Posted (Actual): June 8, 2022

Study Record Updates

• Last Update Posted (Estimated): October 2, 2025
• Last Update Submitted That Met QC Criteria: September 26, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Keywords: Idiopathic cardiomyopathies
• Additional Relevant MeSH Terms: Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Lipid Metabolism Disorders; Genetic Diseases, X-Linked; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Sphingolipidoses; Lipidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Fabry Disease; Investigative Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Health Services; Health Care Facilities Workforce and Services; Preventive Health Services; Genetic Techniques; Genetic Services; Diagnostic Services; Genetic Testing
• Other Study ID Numbers: F-CHECK

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No