Fabry Disease Clinical Trial
— F-CHECKOfficial title:
Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
| 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 |
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.
| 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 |
| 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 |
| 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 |
Portugal,
| 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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