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

October 24, 2023 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

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

600

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 Backup

Study Locations

  • Portugal
      • Barcelos, Portugal, 4750-275
        • Recruiting
        • Hospital Santa Maria Maior
        • Contact:
          • Gabriela Paulo, MD
          • Phone Number: (+351) 253809200
        • Principal Investigator:
          • Gabriela Paulo
      • Coimbra, Portugal, 3000-602
        • Active, not recruiting
        • Centro Hospitalar Universitario de Coimbra
      • Leiria, Portugal, 2410-197
        • Active, not recruiting
        • Centro Hospitalar de Leiria
      • Lisboa, Portugal, 1169-024
        • Active, not recruiting
        • Centro Hospitalar Lisboa Central, Hospital Santa Marta
      • Lisboa, Portugal, 1500-650
        • Active, not recruiting
        • Hospital da Luz, Lisboa
      • Lisboa, Portugal, 1600-190
        • Active, not recruiting
        • Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
      • Matosinhos, Portugal, 4464-513
        • Recruiting
        • Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)
        • Principal Investigator:
          • Cristina Gavina, MD, PhD
        • Contact:
          • Cristina Gavina, MD, PhD
          • Phone Number: (+351) 22 939 1000
        • Sub-Investigator:
          • Sofia Correia, MD
      • Penafiel, Portugal, 4564-007
        • Recruiting
        • Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
        • Principal Investigator:
          • Conceição Queiróz, MD
        • Sub-Investigator:
          • Inês Almeida, MD
        • Sub-Investigator:
          • Inês Oliveira, MD
        • Sub-Investigator:
          • Isabel Cruz, MD
        • Sub-Investigator:
          • Bruno Bragança, MD, PhD
        • Contact:
          • Conceição Queirós, MD
          • Phone Number: (+351) 255714000
      • Porto, Portugal, 4099-001
        • Recruiting
        • Centro Hospitalar Universitario de Santo Antonio
        • Sub-Investigator:
          • Ana Meireles, MD
        • Sub-Investigator:
          • Andreia Campinas, MD
        • Contact:
          • Patrícia Rodrigues, MD, PhD
          • Phone Number: (+351) 222077500
        • Principal Investigator:
          • Patrícia Rodrigues, MD, PhD
      • Porto, Portugal, 4200-319
        • Recruiting
        • Centro Hospitalar Universitário São João, E.P.E.
        • Contact:
        • Principal Investigator:
          • Elisabete Martins, MD, PhD
        • Sub-Investigator:
          • João Galvão, MD
        • Sub-Investigator:
          • Ana Amador, MD
        • Sub-Investigator:
          • Catarina Costa, MD
      • Porto, Portugal, 4200-319
        • Recruiting
        • Faculty of Medicine (FMUP)
        • Contact:
      • Santa Maria Da Feira, Portugal, 4520-220
        • Recruiting
        • Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
        • Sub-Investigator:
          • Ana Barbosa, MD
        • Contact:
          • Alexandra Sousa, MD, PhD
          • Phone Number: (+351) 256379700
        • Principal Investigator:
          • Alexandra Sousa, MD, PhD
      • Viana Do Castelo, Portugal, 4904-858
        • Active, not recruiting
        • Hospital de Santa Luzia
      • Vila Nova De Gaia, Portugal, 4434-502
        • Recruiting
        • Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
        • Contact:
          • Ricardo Carvalho, MD, PhD
          • Phone Number: (+351) 227865100
        • Principal Investigator:
          • Ricardo Carvalho, MD, PhD
        • Sub-Investigator:
          • Mariana Brandão, MD
      • Vila Real, Portugal, 5000-508
        • Recruiting
        • Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.
        • Contact:
          • Inês Silveira, MD
          • Phone Number: (+351) 259300500
        • Principal Investigator:
          • Inês Silveira, MD
        • Sub-Investigator:
          • Isabel Moreira, MD

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

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
Intervention / Treatment
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

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

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

Universidade do Porto

Collaborators

Hospital da Luz, Lisboa
Hospital Pedro Hispano
Centro Hospitalar de Leiria
Centro Hospitalar Universitário de São João, E.P.E.
Hospital Santa Maria Maior
Centro de Investigação em Tecnologias e Serviços de Saúde (CINTESIS)
Rede de Investigação em Saúde (RISE), Laboratório Associado
Centro Hospitalar Universitário de Coimbra
Centro Hospitalar Universitário de Santo António
Centro Hospitalar Lisboa Central, Hospital Santa Marta
Faculty of Medicine (FMUP)
Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
Hospital de Santa Luzia
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.

Investigators

  • Principal Investigator: Elisabete Martins, MD, PhD, Faculty of Medicine (FMUP)

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)

April 15, 2022

Primary Completion (Estimated)

April 15, 2024

Study Completion (Estimated)

April 15, 2025

Study Registration Dates

First Submitted

June 3, 2022

First Submitted That Met QC Criteria

June 3, 2022

First Posted (Actual)

June 8, 2022

Study Record Updates

Last Update Posted (Actual)

October 25, 2023

Last Update Submitted That Met QC Criteria

October 24, 2023

Last Verified

September 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID 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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