Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies (F-CHECK)

September 26, 2025 updated by: Universidade do Porto

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
409

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

Study Locations

  • Portugal
      • Coimbra, Portugal, 3000-602
        • Centro Hospitalar Universitario de Coimbra
      • Lisbon, Portugal, 1500-650
        • Hospital da Luz, Lisboa
      • Lisbon, Portugal, 1600-190
        • Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
      • Matosinhos Municipality, Portugal, 4464-513
        • Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)
      • Penafiel, Portugal, 4564-007
        • Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
      • Porto, Portugal, 4200-319
        • Faculty of Medicine (FMUP)
      • Porto, Portugal, 4099-001
        • Centro Hospitalar Universitário de Santo António
      • Porto, Portugal, 4200-319
        • Centro Hospitalar Universitario Sao Joao, E.P.E.
      • Santa Maria da Feira, Portugal, 4520-220
        • Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
      • Vila Nova de Gaia, Portugal, 4434-502
        • Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
      • Vila Real, Portugal, 5000-508
        • Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

30 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Idiopathic cardiomyopathy patients

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Group A
Idiopathic hypertrophic cardiomyopathy
Diagnostic test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)
Group B
Idiopathic left ventricle hypertrophy
Diagnostic test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)
Group C
Idiopathic burned-out hypertrophic cardiomyopathy
Diagnostic test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)
Group D
Idiopathic dilated cardiomyopathy
Diagnostic test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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
12 months

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Familiar screening of Fabry Disease
Time Frame: 12 months
Number of relatives with Fabry Disease
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Universidade do Porto

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Hospital da Luz, Lisboa
Hospital Pedro Hispano
Centro Hospitalar De São João, E.P.E.
Centro de Investigação em Tecnologias e Serviços de Saúde
Centro Hospitalar Universitário de Coimbra
Centro Hospitalar Universitário de Santo António
Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.
Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
Rede de Investigação em Saúde

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Elisabete Martins, MD, PhD, Universidade do Porto

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
April 15, 2022

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
January 1, 2025

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
April 15, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
June 3, 2022

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 3, 2022

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
June 8, 2022

Study Record Updates

Last Update Posted (Estimated)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
October 2, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
September 26, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
September 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • F-CHECK

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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