Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies

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.

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Key information

Conditions

Fabry Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Vascular Diseases

Age range

30 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Alfa-galactosidase activity and genetic testing for Fabry diagnosis

Diagnostic Test

Dry blood spot analysis and blood sample (if necessary)

Primary outcomes

Frequency of Fabry Disease in patients with idiopathic cardiomyopathies

Time frame: 12 months

Ratio of number of patients with Fabry Disease and total number of idiopathic cardiomyopathies patients

Secondary outcomes

Familiar screening of Fabry Disease

Time frame: 12 months

Number of relatives with Fabry Disease

Sponsors and collaborators

Lead sponsor

Universidade do Porto

Other

Collaborators

Centro Hospitalar De São João, E.P.E.
Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.
Centro Hospitalar Universitário Lisboa Norte
Centro Hospitalar Universitário de Coimbra
Centro Hospitalar Universitário de Santo António
Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
Centro de Investigação em Tecnologias e Serviços de Saúde
Hospital Pedro Hispano
Hospital da Luz Lisboa, Portugal
Rede de Investigação em Saúde

Registry information

Official study title

Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies

Acronym: F-CHECK

Important dates

Study start: 2022
Primary completion: 2025
Study completion: 2025
First posted: Jun 8, 2022
Registry last updated: Oct 2, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed