Clinical trial NCT05409846: Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
Official title: Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Fabry Disease
Keywords: Idiopathic cardiomyopathies
Lead sponsor: Universidade do Porto
Sponsor class: OTHER
Collaborators: name: Centro Hospitalar De São João, E.P.E.
name: Hospital Pedro Hispano
name: Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
name: Hospital Santa Maria Maior
name: Hospital da Luz, Lisboa
name: Hospital de Santa Luzia
name: Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.
name: Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
name: Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
name: Centro Hospitalar de Leiria
name: Centro Hospitalar Universitário de Coimbra
name: Centro Hospitalar Lisboa Central, Hospital Santa Marta
name: Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
name: Centro Hospitalar Universitário de Santo António
name: Centro de Investigação em Tecnologias e Serviços de Saúde
name: Rede de Investigação em Saúde
First posted: 2022-06-08
Enrollment: 600
Sex: ALL
Minimum age (years): 30
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Idiopathic cardiomyopathy patients

Brief 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 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

Primary outcomes:
measure: Frequency of Fabry Disease in patients with idiopathic cardiomyopathies
timeFrame: 12 months
Secondary outcomes:
measure: Familiar screening of Fabry Disease
timeFrame: 12 months
Other outcomes:
Locations:
city: Barcelos
country: Portugal
facility: Hospital Santa Maria Maior
city: Coimbra
country: Portugal
facility: Centro Hospitalar Universitário de Coimbra
city: Leiria
country: Portugal
facility: Centro Hospitalar de Leiria
city: Lisboa
country: Portugal
facility: Centro Hospitalar Lisboa Central, Hospital Santa Marta
city: Lisboa
country: Portugal
facility: Hospital da Luz, Lisboa
city: Lisboa
country: Portugal
facility: Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
city: Matosinhos
country: Portugal
facility: Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)
city: Penafiel
country: Portugal
facility: Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
city: Porto
country: Portugal
facility: Centro Hospitalar Universitário de Santo António
city: Porto
country: Portugal
facility: Centro Hospitalar Universitário São João, E.P.E.
city: Porto
country: Portugal
facility: Faculty of Medicine (FMUP)
city: Santa Maria Da Feira
country: Portugal
facility: Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
city: Viana Do Castelo
country: Portugal
facility: Hospital de Santa Luzia
city: Vila Nova De Gaia
country: Portugal
facility: Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
city: Vila Real
country: Portugal
facility: Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.
Study officials:
affiliation: Universidade do Porto
name: Elisabete Martins, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: