Screening for Fabry Disease in Portuguese Patients with Heart Conditions
Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
This study is testing how common Fabry disease is in Portuguese patients over 30 with unexplained heart problems to see if it affects their condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Ages | 30 Years and up |
| Sex | All |
| Sponsor | Universidade do Porto Academic / other |
| Locations | 15 sites (Barcelos and 14 other locations) |
| Trial ID | NCT05409846 on ClinicalTrials.gov |
What this trial studies
This observational study aims to assess the prevalence of Fabry disease among Portuguese patients diagnosed with various idiopathic cardiomyopathies. It will involve screening patients over the age of 30 who exhibit unexplained heart conditions, including hypertrophic and dilated cardiomyopathy. The methodology includes testing for alfa-galactosidase activity and conducting genetic tests to confirm Fabry disease diagnosis. The study seeks to fill the knowledge gap regarding the impact of Fabry disease on different cardiac phenotypes.
Who should consider this trial
Good fit: Ideal candidates are patients over 30 years old with unexplained hypertrophic or dilated cardiomyopathy.
Not a fit: Patients who have previously been diagnosed with Fabry disease or have identified genetic variants causing their cardiomyopathy may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and management of Fabry disease in patients with unexplained heart conditions.
How similar studies have performed: While the prevalence of Fabry disease in this specific population is largely unknown, similar screening approaches have been successful in other regions, indicating potential for meaningful findings.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Barcelos and 14 other locations
- Hospital Santa Maria Maior — Barcelos, Portugal (Recruiting)
- Centro Hospitalar Universitário de Coimbra — Coimbra, Portugal (Active_not_recruiting)
- Centro Hospitalar de Leiria — Leiria, Portugal (Active_not_recruiting)
- Centro Hospitalar Lisboa Central, Hospital Santa Marta — Lisboa, Portugal (Active_not_recruiting)
- Hospital da Luz, Lisboa — Lisboa, Portugal (Active_not_recruiting)
- Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria — Lisboa, Portugal (Active_not_recruiting)
- Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos) — Matosinhos, Portugal (Recruiting)
- Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo — Penafiel, Portugal (Recruiting)
- Centro Hospitalar Universitário de Santo António — Porto, Portugal (Recruiting)
- Centro Hospitalar Universitário São João, E.P.E. — Porto, Portugal (Recruiting)
- Faculty of Medicine (FMUP) — Porto, Portugal (Recruiting)
- Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião — Santa Maria Da Feira, Portugal (Recruiting)
- Hospital de Santa Luzia — Viana Do Castelo, Portugal (Active_not_recruiting)
- Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E. — Vila Nova De Gaia, Portugal (Recruiting)
- Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E. — Vila Real, Portugal (Recruiting)
Study contacts
- Principal investigator: Elisabete Martins, MD, PhD — Universidade do Porto
- Study coordinator: Elisabete Martins, MD, PhD
- Email: ebernardes@med.up.pt
- Phone: (+351) 965913480
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.