Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies

Recruiting

• Conditions: Fabry Disease

• Registration Number: NCT05409846
• Lead Sponsor: Universidade do Porto

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2022-04-15
• Study First Submitted: 2022-06-03
• Study First Submitted QC: 2022-06-03
• Study First Posted: 2022-06-08
• Status Verified: 2023-09
• Last Update Submitted: 2023-10-24
• Last Update Posted: 2023-10-25
• Primary Completion: 2024-04-15
• Study Completion: 2025-04-15

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 600

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

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Frequency of Fabry Disease in patients with idiopathic cardiomyopathies	12 months	Ratio of number of patients with Fabry Disease and total number of idiopathic cardiomyopathies patients

Secondary Outcome Measures

Name	Time	Method
Familiar screening of Fabry Disease	12 months	Number of relatives with Fabry Disease

Trial Locations

Locations (15)

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

Hospital da Luz, Lisboa; 🇵🇹 Lisboa, Portugal

Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria; 🇵🇹 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

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