Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies

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

• Fabry Disease

Interventions

DIAGNOSTIC_TEST

Alfa-galactosidase activity and genetic testing for Fabry diagnosis

Dry blood spot analysis and blood sample (if necessary)

Sponsors & Collaborators

• Centro Hospitalar De São João, E.P.E.

  collaborator OTHER

• Hospital Pedro Hispano

  collaborator OTHER

• Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo

  collaborator UNKNOWN

• Hospital da Luz, Lisboa

  collaborator UNKNOWN

• Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.

  collaborator UNKNOWN

• Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria

  collaborator UNKNOWN

• Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião

  collaborator UNKNOWN

• Centro Hospitalar Universitário de Coimbra

  collaborator UNKNOWN

• Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.

  collaborator UNKNOWN

• Centro Hospitalar Universitário de Santo António

  collaborator OTHER

• Centro de Investigação em Tecnologias e Serviços de Saúde

  collaborator OTHER

• Rede de Investigação em Saúde

  collaborator OTHER

• Universidade do Porto

  lead OTHER

Principal Investigators

• Elisabete Martins, MD, PhD · Universidade do Porto

Eligibility

Min Age

30 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2022-04-15

Primary Completion

2025-01-01

Completion

2025-04-15

Countries

• Portugal

Study Locations