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Hidden genetic heart condition sought in 409 portuguese patients

NCT ID NCT05409846

Knowledge-focused Sponsor: Universidade do Porto Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

409 people

The number who actually took part.

Started

Apr 2022

Finished

Apr 2025

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Idiopathic cardiomyopathy patients

Ages

30 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

dilated cardiomyopathy Fabry disease hypertrophic cardiomyopathy

As listed by the trial registrant

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

Fabry disease

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

More trials for these conditions

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