Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
NCT ID: NCT05409846
Last Updated: 2025-10-02
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
409 participants
OBSERVATIONAL
2022-04-15
2025-04-15
Brief Summary
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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.
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Detailed Description
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Conditions
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Study Design
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OTHER
CROSS_SECTIONAL
Study Groups
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Group A
Idiopathic hypertrophic cardiomyopathy
Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)
Group B
Idiopathic left ventricle hypertrophy
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
Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)
Group D
Idiopathic dilated cardiomyopathy
Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)
Interventions
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Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)
Eligibility Criteria
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Inclusion Criteria
* 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 identified causal pathogenic/likely pathogenic genetic variant
* evidence of cardiomyopathy under the age of 30
30 Years
ALL
No
Sponsors
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Centro Hospitalar De São João, E.P.E.
OTHER
Hospital Pedro Hispano
OTHER
Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
UNKNOWN
Hospital da Luz, Lisboa
UNKNOWN
Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.
UNKNOWN
Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
UNKNOWN
Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
UNKNOWN
Centro Hospitalar Universitário de Coimbra
UNKNOWN
Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
UNKNOWN
Centro Hospitalar Universitário de Santo António
OTHER
Centro de Investigação em Tecnologias e Serviços de Saúde
OTHER
Rede de Investigação em Saúde
OTHER
Universidade do Porto
OTHER
Responsible Party
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Principal Investigators
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Elisabete Martins, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
Universidade do Porto
Locations
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Centro Hospitalar Universitário de Coimbra
Coimbra, , Portugal
Hospital da Luz, Lisboa
Lisbon, , Portugal
Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
Lisbon, , Portugal
Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)
Matosinhos Municipality, , Portugal
Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
Penafiel, , Portugal
Centro Hospitalar Universitário de Santo António
Porto, , Portugal
Centro Hospitalar Universitário São João, E.P.E.
Porto, , Portugal
Faculty of Medicine (FMUP)
Porto, , Portugal
Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
Santa Maria da Feira, , Portugal
Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
Vila Nova de Gaia, , Portugal
Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.
Vila Real, , Portugal
Countries
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Other Identifiers
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F-CHECK
Identifier Type: -
Identifier Source: org_study_id
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