Trials / Completed
CompletedNCT05409846
Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
- Status
- Completed
- Phase
- —
- Study type
- Observational
- Enrollment
- 409 (actual)
- Sponsor
- Universidade do Porto · Academic / Other
- Sex
- All
- Age
- 30 Years
- Healthy volunteers
- Not accepted
Summary
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.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| DIAGNOSTIC_TEST | Alfa-galactosidase activity and genetic testing for Fabry diagnosis | Dry blood spot analysis and blood sample (if necessary) |
Timeline
- Start date
- 2022-04-15
- Primary completion
- 2025-01-01
- Completion
- 2025-04-15
- First posted
- 2022-06-08
- Last updated
- 2025-10-02
Locations
11 sites across 1 country: Portugal
Source: ClinicalTrials.gov record NCT05409846. Inclusion in this directory is not an endorsement.