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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05409846
Other study ID # F-CHECK
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date April 15, 2022
Est. completion date April 15, 2025

Study information

Verified date September 2023
Source Universidade do Porto
Contact Elisabete Martins, MD, PhD
Phone (+351) 965913480
Email ebernardes@med.up.pt
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


Recruitment information / eligibility

Status Recruiting
Enrollment 600
Est. completion date April 15, 2025
Est. primary completion date April 15, 2024
Accepts healthy volunteers No
Gender All
Age group 30 Years and older
Eligibility 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 Design


Related Conditions & MeSH terms


Intervention

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

Locations

Country Name City State
Portugal Hospital Santa Maria Maior Barcelos
Portugal Centro Hospitalar Universitário de Coimbra Coimbra
Portugal Centro Hospitalar de Leiria Leiria
Portugal Centro Hospitalar Lisboa Central, Hospital Santa Marta Lisboa
Portugal Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria Lisboa
Portugal Hospital da Luz, Lisboa Lisboa
Portugal Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos) Matosinhos
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 Hospital de Santa Luzia Viana Do Castelo
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

Sponsors (18)

Lead Sponsor Collaborator
Universidade do Porto Centro de Investigação em Tecnologias e Serviços de Saúde (CINTESIS), Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião, Centro Hospitalar de Leiria, Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E., Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E., Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo, Centro Hospitalar Lisboa Central, Hospital Santa Marta, Centro Hospitalar Universitário de Coimbra, Centro Hospitalar Universitário de Santo António, Centro Hospitalar Universitário de São João, E.P.E., Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria, Faculty of Medicine (FMUP), Hospital da Luz, Lisboa, Hospital de Santa Luzia, Hospital Pedro Hispano, Hospital Santa Maria Maior, Rede de Investigação em Saúde (RISE), Laboratório Associado

Country where clinical trial is conducted

Portugal, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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 Familiar screening of Fabry Disease Number of relatives with Fabry Disease 12 months
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