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NCT05409846Completed

Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies

Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies

Source: ClinicalTrials.gov · Last updated 2 Oct 2025

Brief summary (registry, in English)

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.

Status (registry)
Completed
Study type
Observational
Enrollment
409 (actual)
First submitted
3 Jun 2022
Start date
15 Apr 2022
Primary completion date
1 Jan 2025
Lead sponsor
Universidade do Porto
NCT number
NCT05409846

What you commit to

  • Study type: Observational
  • Participants enrolled: 409
  • From 15 Apr 2022 to the primary completion date, 1 Jan 2025
  • 11 sites in 1 country
  • Visits and tests: ask the trial team, the registry does not list them

Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.

Who cannot take part

Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.

Prior treatment

  • previous exclusion of Fabry disease
  • previous identified causal pathogenic/likely pathogenic genetic variant

Age

  • evidence of cardiomyopathy under the age of 30

Who the study is looking for

  • 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)

Age in the registry: 30 years to - · Sex: All · Does not accept healthy volunteers

Full criteria on ClinicalTrials.gov

Sites (11)

Sites in registry order. Pick your city on the disease page to sort them by distance.

SiteCityCountrySite status
Centro Hospitalar Universitario de Coimbra
Coordinator of this site? Confirm its status
CoimbraPortugalUnknown status
Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
Coordinator of this site? Confirm its status
LisbonPortugalUnknown status
Hospital da Luz Lisboa
Coordinator of this site? Confirm its status
LisbonPortugalUnknown status
Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)
Coordinator of this site? Confirm its status
Matosinhos MunicipalityPortugalUnknown status
Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
Coordinator of this site? Confirm its status
PenafielPortugalUnknown status
Faculty of Medicine (FMUP)
Coordinator of this site? Confirm its status
PortoPortugalUnknown status
Centro Hospitalar Universitario Sao Joao E.P.E.
Coordinator of this site? Confirm its status
PortoPortugalUnknown status
Centro Hospitalar Universitario de Santo Antonio
Coordinator of this site? Confirm its status
PortoPortugalUnknown status
Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
Coordinator of this site? Confirm its status
Santa Maria da FeiraPortugalUnknown status
Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
Coordinator of this site? Confirm its status
Vila Nova de GaiaPortugalUnknown status
Centro Hospitalar De Tras-Os-Montes E Alto Douro E.P.E.
Coordinator of this site? Confirm its status
Vila RealPortugalUnknown status

This page is information, not medical advice. Discuss any trial with your doctor.