Hidden genetic heart condition sought in 409 portuguese patients

NCT ID NCT05409846

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looked for Fabry disease, a rare genetic disorder, in 409 Portuguese adults with unexplained heart muscle diseases. Researchers tested patients with different types of cardiomyopathy to see how many actually had Fabry disease. The goal was to better understand how common this treatable condition is among these patients and to also screen their family members.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.

    Vila Real, 5000-508, Portugal

  • Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria

    Lisbon, 1600-190, Portugal

  • Centro Hospitalar Universitário São João, E.P.E.

    Porto, 4200-319, Portugal

  • Centro Hospitalar Universitário de Coimbra

    Coimbra, 3000-602, Portugal

  • Centro Hospitalar Universitário de Santo António

    Porto, 4099-001, 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 do Tâmega e Sousa, Hospital Padre Américo

    Penafiel, 4564-007, Portugal

  • Faculty of Medicine (FMUP)

    Porto, 4200-319, Portugal

  • Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)

    Matosinhos Municipality, 4464-513, Portugal

  • Hospital da Luz, Lisboa

    Lisbon, 1500-650, Portugal

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