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
- Diseases
- Fabry disease
- 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
Sites (11)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Centro Hospitalar Universitario de Coimbra Coordinator of this site? Confirm its status | Coimbra | Portugal | Unknown status |
| Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria Coordinator of this site? Confirm its status | Lisbon | Portugal | Unknown status |
| Hospital da Luz Lisboa Coordinator of this site? Confirm its status | Lisbon | Portugal | Unknown status |
| Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos) Coordinator of this site? Confirm its status | Matosinhos Municipality | Portugal | Unknown status |
| Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo Coordinator of this site? Confirm its status | Penafiel | Portugal | Unknown status |
| Faculty of Medicine (FMUP) Coordinator of this site? Confirm its status | Porto | Portugal | Unknown status |
| Centro Hospitalar Universitario Sao Joao E.P.E. Coordinator of this site? Confirm its status | Porto | Portugal | Unknown status |
| Centro Hospitalar Universitario de Santo Antonio Coordinator of this site? Confirm its status | Porto | Portugal | Unknown status |
| Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião Coordinator of this site? Confirm its status | Santa Maria da Feira | Portugal | Unknown status |
| Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E. Coordinator of this site? Confirm its status | Vila Nova de Gaia | Portugal | Unknown status |
| Centro Hospitalar De Tras-Os-Montes E Alto Douro E.P.E. Coordinator of this site? Confirm its status | Vila Real | Portugal | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.