Phase
Condition
Fabry Disease
Kidney Disease
Circulation Disorders
Treatment
Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Clinical Study ID
Ages > 30 All Genders
Study Summary
Eligibility Criteria
Inclusion
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 usingthe same or different imaging methods (Group B)
- unexplained burned-out hypertrophic cardiomyopathy (Group C)
- unexplained dilated cardiomyopathy with evidence of late gadolinium enhancementinvolving the basal posterolateral wall segments (Group D)
Exclusion
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
Connect with a study center
Hospital Santa Maria Maior
Barcelos, 4750-275
PortugalActive - Recruiting
Centro Hospitalar Universitário de Coimbra
Coimbra, 3000-602
PortugalSite Not Available
Centro Hospitalar de Leiria
Leiria, 2410-197
PortugalSite Not Available
Centro Hospitalar Lisboa Central, Hospital Santa Marta
Lisboa, 1169-024
PortugalSite Not Available
Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
Lisboa, 1600-190
PortugalSite Not Available
Hospital da Luz, Lisboa
Lisboa, 1500-650
PortugalSite Not Available
Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)
Matosinhos, 4464-513
PortugalActive - Recruiting
Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
Penafiel, 4564-007
PortugalActive - Recruiting
Centro Hospitalar Universitário São João
Porto, 4200-319
PortugalActive - Recruiting
Centro Hospitalar Universitário São João, E.P.E.
Porto, 4200-319
PortugalActive - Recruiting
Centro Hospitalar Universitário de Santo António
Porto, 4099-001
PortugalActive - Recruiting
Faculty of Medicine (FMUP)
Porto, 4200-319
PortugalActive - Recruiting
Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
Santa Maria Da Feira, 4520-220
PortugalActive - Recruiting
Hospital de Santa Luzia
Viana Do Castelo, 4904-858
PortugalSite Not Available
Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
Vila Nova De Gaia, 4434-502
PortugalActive - Recruiting
Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.
Vila Real, 5000-508
PortugalActive - Recruiting
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