Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
F-CHECK
Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
1 other identifier
observational
409
1 country
11
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Apr 2022
Typical duration for all trials
11 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
April 15, 2022
CompletedFirst Submitted
Initial submission to the registry
June 3, 2022
CompletedFirst Posted
Study publicly available on registry
June 8, 2022
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 1, 2025
CompletedStudy Completion
Last participant's last visit for all outcomes
April 15, 2025
CompletedOctober 2, 2025
September 1, 2025
2.7 years
June 3, 2022
September 26, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
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 Outcomes (1)
Familiar screening of Fabry Disease
12 months
Study Arms (4)
Group A
Idiopathic hypertrophic cardiomyopathy
Group B
Idiopathic left ventricle hypertrophy
Group C
Idiopathic burned-out hypertrophic cardiomyopathy
Group D
Idiopathic dilated cardiomyopathy
Interventions
Dry blood spot analysis and blood sample (if necessary)
Eligibility Criteria
Idiopathic cardiomyopathy patients
You may qualify if:
- 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)
You may not qualify if:
- previous identified causal pathogenic/likely pathogenic genetic variant
- evidence of cardiomyopathy under the age of 30
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Universidade do Portolead
- Centro Hospitalar De São João, E.P.E.collaborator
- Hospital Pedro Hispanocollaborator
- Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américocollaborator
- Hospital da Luz, Lisboacollaborator
- Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.collaborator
- Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Mariacollaborator
- Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastiãocollaborator
- Centro Hospitalar Universitário de Coimbracollaborator
- Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.collaborator
- Centro Hospitalar Universitário de Santo Antóniocollaborator
- Centro de Investigação em Tecnologias e Serviços de Saúdecollaborator
- Rede de Investigação em Saúdecollaborator
Study Sites (11)
Centro Hospitalar Universitário de Coimbra
Coimbra, 3000-602, Portugal
Hospital da Luz, Lisboa
Lisbon, 1500-650, Portugal
Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
Lisbon, 1600-190, Portugal
Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)
Matosinhos Municipality, 4464-513, Portugal
Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
Penafiel, 4564-007, Portugal
Centro Hospitalar Universitário de Santo António
Porto, 4099-001, Portugal
Centro Hospitalar Universitário São João, E.P.E.
Porto, 4200-319, Portugal
Faculty of Medicine (FMUP)
Porto, 4200-319, Portugal
Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
Santa Maria da Feira, 4520-220, Portugal
Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
Vila Nova de Gaia, 4434-502, Portugal
Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.
Vila Real, 5000-508, Portugal
Biospecimen
Dry blood spot
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Elisabete Martins, MD, PhD
Universidade do Porto
Study Design
- Study Type
- observational
- Observational Model
- OTHER
- Time Perspective
- CROSS SECTIONAL
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
June 3, 2022
First Posted
June 8, 2022
Study Start
April 15, 2022
Primary Completion
January 1, 2025
Study Completion
April 15, 2025
Last Updated
October 2, 2025
Record last verified: 2025-09