Hidden heart risk: study screens for rare genetic disease in 409 patients
NCT ID NCT05409846
First seen Nov 01, 2025 · Last updated May 15, 2026 · Updated 28 times
Summary
This study looked at 409 adults in Portugal who had heart muscle diseases (cardiomyopathies) with no clear cause. The goal was to find out how many of them actually had Fabry disease, a rare genetic condition that can affect the heart. Researchers tested patients with different types of unexplained heart problems to better understand the true frequency of Fabry disease in this group.
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Contacts and locations
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Locations
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Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.
Vila Real, 5000-508, Portugal
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Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
Lisbon, 1600-190, Portugal
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Centro Hospitalar Universitário São João, E.P.E.
Porto, 4200-319, Portugal
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Centro Hospitalar Universitário de Coimbra
Coimbra, 3000-602, Portugal
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Centro Hospitalar Universitário de Santo António
Porto, 4099-001, Portugal
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Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
Santa Maria da Feira, 4520-220, Portugal
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Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
Vila Nova de Gaia, 4434-502, Portugal
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Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
Penafiel, 4564-007, Portugal
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Faculty of Medicine (FMUP)
Porto, 4200-319, Portugal
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Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)
Matosinhos Municipality, 4464-513, Portugal
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Hospital da Luz, Lisboa
Lisbon, 1500-650, Portugal
Conditions
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