Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies

Last updated: September 26, 2025
Sponsor: Universidade do Porto
Overall Status: Completed

Phase

N/A

Condition

Fabry Disease

Kidney Disease

Circulation Disorders

Treatment

Alfa-galactosidase activity and genetic testing for Fabry diagnosis

Clinical Study ID

NCT05409846
F-CHECK
  • Ages > 30
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

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 usingthe same or different imaging methods (Group B)

  • unexplained burned-out hypertrophic cardiomyopathy (Group C)

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

Exclusion

Exclusion Criteria:

  • previous exclusion of Fabry disease

  • previous identified causal pathogenic/likely pathogenic genetic variant

  • evidence of cardiomyopathy under the age of 30

Study Design

Total Participants: 409
Treatment Group(s): 1
Primary Treatment: Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Phase:
Study Start date:
April 15, 2022
Estimated Completion Date:
April 15, 2025

Connect with a study center

  • Hospital Santa Maria Maior

    Barcelos, 4750-275
    Portugal

    Site Not Available

  • Centro Hospitalar Universitário de Coimbra

    Coimbra, 3000-602
    Portugal

    Site Not Available

  • Centro Hospitalar Universitário de Coimbra

    Coimbra 2740637, 3000-602
    Portugal

    Site Not Available

  • Centro Hospitalar de Leiria

    Leiria, 2410-197
    Portugal

    Site Not Available

  • Centro Hospitalar Lisboa Central, Hospital Santa Marta

    Lisboa, 1169-024
    Portugal

    Site Not Available

  • Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria

    Lisboa, 1600-190
    Portugal

    Site Not Available

  • Hospital da Luz, Lisboa

    Lisboa, 1500-650
    Portugal

    Site Not Available

  • Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria

    Lisbon 2267057, 1600-190
    Portugal

    Site Not Available

  • Hospital da Luz, Lisboa

    Lisbon 2267057, 1500-650
    Portugal

    Site Not Available

  • Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)

    Matosinhos, 4464-513
    Portugal

    Site Not Available

  • Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)

    Matosinhos Municipality 2737824, 4464-513
    Portugal

    Site Not Available

  • Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo

    Penafiel, 4564-007
    Portugal

    Site Not Available

  • Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo

    Penafiel 2736469, 4564-007
    Portugal

    Site Not Available

  • Centro Hospitalar Universitário São João

    Porto, 4200-319
    Portugal

    Active - Recruiting

  • Centro Hospitalar Universitário São João, E.P.E.

    Porto, 4200-319
    Portugal

    Active - Recruiting

  • Centro Hospitalar Universitário de Santo António

    Porto, 4099-001
    Portugal

    Active - Recruiting

  • Faculty of Medicine (FMUP)

    Porto, 4200-319
    Portugal

    Site Not Available

  • Centro Hospitalar Universitário São João, E.P.E.

    Porto 2735943, 4200-319
    Portugal

    Site Not Available

  • Centro Hospitalar Universitário de Santo António

    Porto 2735943, 4099-001
    Portugal

    Site Not Available

  • Faculty of Medicine (FMUP)

    Porto 2735943, 4200-319
    Portugal

    Site Not Available

  • Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião

    Santa Maria Da Feira, 4520-220
    Portugal

    Site Not Available

  • Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião

    Santa Maria da Feira 6640086, 4520-220
    Portugal

    Site Not Available

  • Hospital de Santa Luzia

    Viana Do Castelo, 4904-858
    Portugal

    Site Not Available

  • Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.

    Vila Nova De Gaia, 4434-502
    Portugal

    Site Not Available

  • Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.

    Vila Nova de Gaia 2732544, 4434-502
    Portugal

    Site Not Available

  • Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.

    Vila Real, 5000-508
    Portugal

    Site Not Available

  • Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.

    Vila Real 2732438, 5000-508
    Portugal

    Site Not Available

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