Fabry DiseaseF-CHECKNCT05409846
Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
An observational study of Fabry Disease, run by Universidade do Porto at 11 sites in Portugal.
Trial 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… Read more about this study
- Who is it for?
- Ages 30 years and older
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Alfa-galactosidase activity and genetic testing for Fabry diagnosis
- How many people
- 409 participants
- Where
- 11 sitesPortugal
- Study dates
- 15 Apr 2022to 15 Apr 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 30 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Idiopathic cardiomyopathy patients
Who may be able to join
- 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)
Who cannot join
- previous exclusion of Fabry disease
- previous identified causal pathogenic/likely pathogenic genetic variant
- evidence of cardiomyopathy under the age of 30
Trial locations and contacts
11 sites in 1 country.
11 sites in 1 country
Portugal11 sites
Centro Hospitalar Universitário de Coimbra
Coimbra, 3000-602
Hospital da Luz, Lisboa
Lisbon, 1500-650
Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
Lisbon, 1600-190
Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)
Matosinhos Municipality, 4464-513
Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
Penafiel, 4564-007
Centro Hospitalar Universitário de Santo António
Porto, 4099-001
Centro Hospitalar Universitário São João, E.P.E.
Porto, 4200-319
Faculty of Medicine (FMUP)
Porto, 4200-319
Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
Santa Maria da Feira, 4520-220
Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
Vila Nova de Gaia, 4434-502
Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.
Vila Real, 5000-508
About this study
Official title: Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
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
- Fabry Disease
- Being tested
- Alfa-galactosidase activity and genetic testing for Fabry diagnosis
- Keywords
- Idiopathic cardiomyopathies
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Alfa-galactosidase activity and genetic testing for Fabry diagnosisDiagnostic test
Dry blood spot analysis and blood sample (if necessary)
| Study group | Role | What they receive |
|---|---|---|
| Group A | Idiopathic hypertrophic cardiomyopathy Receives: Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis | |
| Group B | Idiopathic left ventricle hypertrophy Receives: Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis | |
| Group C | Idiopathic burned-out hypertrophic cardiomyopathy Receives: Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis | |
| Group D | Idiopathic dilated cardiomyopathy Receives: Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequency of Fabry Disease in patients with idiopathic cardiomyopathies
Ratio of number of patients with Fabry Disease and total number of idiopathic cardiomyopathies patients
Measured: 12 months
Secondary outcomes (1)
Familiar screening of Fabry Disease
Number of relatives with Fabry Disease
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jun 2022
- Study start15 Apr 2022
- Primary completion1 Jan 2025
- Study completion15 Apr 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 409 participants (actual)
Sponsor and investigators
- Lead sponsor
- Universidade do Porto
- Sponsor type
- University, hospital or other
- Collaborators
- Centro Hospitalar De São João, E.P.E., Hospital Pedro Hispano, Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo, Hospital da Luz Lisboa, Portugal, Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E., Centro Hospitalar Universitário Lisboa Norte, Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião, Centro Hospitalar Universitário de Coimbra, Centro Hospitalar de Vila Nova de Gaia/Espinho, E.P.E., Centro Hospitalar Universitário de Santo António, Centro de Investigação em Tecnologias e Serviços de Saúde, Rede de Investigação em Saúde
- Responsible party
- Sponsor
- Investigators
- Elisabete Martins, MD, PhD, Principal investigator, Universidade do Porto
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05409846
- Sponsor's protocol ID
- F-CHECK
- Acronym
- F-CHECK
- Status last verified
- Sep 2025
- First submitted
- 3 Jun 2022
- Last updated
- 2 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
- ClinicalTrials.gov ID
- NCT05409846
- Acronym / sponsor ID
- F-CHECK / F-CHECK
- Conditions
- Fabry Disease
- Keywords
- Idiopathic cardiomyopathies
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 409 participants (actual)
- Lead sponsor
- Universidade do PortoUniversity, hospital or other
- Collaborators
- Centro Hospitalar De São João, E.P.E., Hospital Pedro Hispano, Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo, Hospital da Luz Lisboa, Portugal, Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E., Centro Hospitalar Universitário Lisboa Norte, Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião, Centro Hospitalar Universitário de Coimbra, Centro Hospitalar de Vila Nova de Gaia/Espinho, E.P.E., Centro Hospitalar Universitário de Santo António, Centro de Investigação em Tecnologias e Serviços de Saúde, Rede de Investigação em Saúde
- Study start
- 15 Apr 2022 (actual)
- Primary completion
- 1 Jan 2025 (actual)
- Study completion
- 15 Apr 2025 (actual)
- First posted
- 8 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Group A | – | Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosisIdiopathic hypertrophic cardiomyopathy |
| Group B | – | Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosisIdiopathic left ventricle hypertrophy |
| Group C | – | Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosisIdiopathic burned-out hypertrophic cardiomyopathy |
| Group D | – | Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosisIdiopathic dilated cardiomyopathy |
Who may qualify
- Ages
- 30 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Idiopathic cardiomyopathy patients
Key inclusion criteria (5 listed)
- 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)
Key exclusion criteria (3 listed)
- previous exclusion of Fabry disease
- previous identified causal pathogenic/likely pathogenic genetic variant
- evidence of cardiomyopathy under the age of 30
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Alfa-galactosidase activity and genetic testing for Fabry diagnosisDry blood spot analysis and blood sample (if necessary) | Diagnostic test | Group A, Group B, Group C, Group D |
Primary outcome
Frequency of Fabry Disease in patients with idiopathic cardiomyopathies
Time frame: 12 months
Ratio of number of patients with Fabry Disease and total number of idiopathic cardiomyopathies patients
1 secondary outcome
Familiar screening of Fabry Disease
Time frame: 12 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Oct 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Elisabete Martins, MD, PhD principal investigator
Universidade do Porto
11 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Universidade do Porto at 11 sites in Portugal.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in Portugal. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Frequency of Fabry Disease in patients with idiopathic cardiomyopathies (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Oct 2025.