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National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry

NCT ID: NCT06546137

Last Updated: 2025-12-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

600 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-04-30

Study Completion Date

2026-08-31

Brief Summary

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The goal of this observational study is to develop a registry of Brazilian patients with hereditary cardiovascular diseases, combining clinical and genomic data. The main questions it aims to answer are:

Which genes are most commonly affected? What is the frequency of these genetic alterations in our population? Participants will be interviewed in routine medical care visits and their DNA will be sequenced.

Detailed Description

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Conditions

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Cardiomyopathy, Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy Restrictive Arrhythmogenic Right Ventricular Dysplasia Non-Compaction Cardiomyopathy Familial Hypercholesterolemia Marfan Syndrome Ehlers-Danlos Syndrome, Vascular Type Loeys-Dietz Syndrome Long QT Syndrome Short Qt Syndrome Brugada Syndrome Catecholaminergic Polymorphic Ventricular Tachycardia Sudden Cardiac Death

Keywords

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hereditary cardiovascular diseases whole genome sequencing

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Interventions

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whole genome sequencing

whole genome sequencing of genomic DNA extracted from buccal swab

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* Clinical diagnosis of a hereditary cardiovascular disease according to current clinical guidelines
* Agree to receive genetic counseling
* Sign informed consent form
* Provide the information required in the case report form

Exclusion Criteria

* Signature absent from informed consent form
* Inadequate buccal swab (sample may be collected twice)
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Instituto Nacional de Cardiologia de Laranjeiras

OTHER

Sponsor Role collaborator

Universidade Federal do Rio de Janeiro

OTHER

Sponsor Role collaborator

Hospital do Coracao

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Centro de Pesquisa Silvestre Santé

Rio Branco, Acre, Brazil

Site Status RECRUITING

Centro de Pesquisas Clínicas Dr. Marco Mota

Maceió, Alagoas, Brazil

Site Status RECRUITING

Hospital Universitário da Unifap

Macapá, Amapá, Brazil

Site Status RECRUITING

Hospital de Messejana Dr. Carlos Alberto Studart Gomes

Fortaleza, Ceará, Brazil

Site Status RECRUITING

Hospital Universitário Professor Edgard Santos

Salvador, Estado de Bahia, Brazil

Site Status RECRUITING

Hospital Ana Nery - HAN/SESAB

Salvador, Estado de Bahia, Brazil

Site Status RECRUITING

Instituto de Cardiologia e Transplantes do Distrito Federal

Brasília, Federal District, Brazil

Site Status RECRUITING

Hospital das Clínicas da Universidade Federal de Goiás - HC-UFG

Goiânia, Goiás, Brazil

Site Status RECRUITING

Universidade Ceuma

São Luís, Maranhão, Brazil

Site Status RECRUITING

Hospital Felicio Rocho - HFR

Belo Horizonte, Minas Gerais, Brazil

Site Status RECRUITING

Liga Mineira de Ressuscitação Cardiopulmonar

Belo Horizonte, Minas Gerais, Brazil

Site Status RECRUITING

Santa Casa de Misericórdia de Montes Claros

Montes Claros, Minas Gerais, Brazil

Site Status RECRUITING

Health & Care

Belém, Pará, Brazil

Site Status RECRUITING

Hospital Universitário Pedro Ernesto - UERJ

Rio de Janeiro, Rio de Janeiro, Brazil

Site Status RECRUITING

Instituto de Puericultura e Pediatria Martagão Gesteira

Rio de Janeiro, Rio de Janeiro, Brazil

Site Status RECRUITING

Hospital Universitário Clementino Fraga Filho - UFRJ

Rio de Janeiro, Rio de Janeiro, Brazil

Site Status RECRUITING

Instituto Nacional de Cardiologia

Rio de Janeiro, Rio de Janeiro, Brazil

Site Status RECRUITING

Hospital Universitário Onofre Lopes - UFRN

Natal, Rio Grande do Norte, Brazil

Site Status RECRUITING

Hospital das Clínicas de Porto Alegre - UFRGS

Porto Alegre, Rio Grande do Sul, Brazil

Site Status RECRUITING

Instituto de Cardiologia - Fundação Universitária de Cardiologia de Porto Alegre - IC-FUC

Porto Alegre, Rio Grande do Sul, Brazil

Site Status RECRUITING

Instituto de Pesquisa e Ensino em Saúde - IPES

Porto Velho, Rondônia, Brazil

Site Status RECRUITING

Hospital Universitário Professor Polydoro Ernani de São Thiago - UFSC

Florianópolis, Santa Catarina, Brazil

Site Status RECRUITING

Centro Multidisciplinar de Ensino Especializado e Pesquisa Ltda

Joinville, Santa Catarina, Brazil

Site Status RECRUITING

Hospital Universitário São Francisco na Providência de Deus, USF-SP

Bragança Paulista, São Paulo, Brazil

Site Status RECRUITING

Hospital Universitário da Universidade Federal de São Carlos

São Carlos, São Paulo, Brazil

Site Status RECRUITING

Hospital do Coracao

São Paulo, São Paulo, Brazil

Site Status RECRUITING

Universidade Federal do Tocantins

Palmas, Tocantins, Brazil

Site Status RECRUITING

Countries

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Brazil

Central Contacts

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Adriana Bastos Carvalho, MD PhD

Role: CONTACT

Phone: +552130372105

Email: [email protected]

Facility Contacts

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Odilson Marcos Silvestre

Role: primary

Marco Antonio Mota Gomes

Role: primary

Álan B. F. Rebelo

Role: primary

Sônia Maria Cavalcante da Rocha

Role: primary

Luiz P. de Magalhães, MD PhD

Role: primary

Maurico Alves Barreto

Role: primary

Cristina Machado Camargo Afiune

Role: primary

Weimar Kunz Sebba Barroso de Souza

Role: primary

Daniela B. Dibai

Role: primary

Maria da Consolação Vieira Moreira

Role: primary

Eduardo Back Stenick

Role: primary

Luciano Freitas Fernandes

Role: primary

Jonathan S. Sarraf

Role: primary

Marcelo Imbroinise Bittencourt

Role: primary

Nathalie J. M. Bravo Valenzuela

Role: primary

Tais Hanae Kasai Brunswick

Role: primary

Helena C. V. Rey, MD PhD

Role: primary

Rosiane Viana Zuza Diniz

Role: primary

Fabiano de Oliveira Poswar

Role: primary

Maico Furlanetto

Role: primary

Mariana Pinheiro Alves Vasconcelos

Role: primary

Roberto Léo da Silva

Role: primary

Kárila Scarduelli Luciano

Role: primary

Murillo O. Antunes

Role: primary

Meliza Roscani

Role: primary

Otavio Eboli

Role: primary

Luciana Carla Holzbach

Role: primary

Other Identifiers

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RENOMICA-Hcor

Identifier Type: -

Identifier Source: org_study_id