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

NCT06546137 | Recruiting

• 1 other identifier: RENOMICA-Hcor
• Study Type: observational
• Target: 1,211
• Locations: 1 country
• Sites: 27

Brief Summary

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.

Conditions

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

Keywords

hereditary cardiovascular diseases; whole genome sequencing

Outcome Measures

Primary Outcomes (3)

• Diagnostic yield

  Percentage of participants with pathogenic or likely pathogenic variants

  30 months after study start date

• Genetic diversity

  Determine genes that cause hereditary cardiovascular diseases in Brazil

  30 months after study start date

• Variant frequency

  Determine the frequency of disease-causing and benign variants in the Brazilian population

  30 months after study start date

Interventions

whole genome sequencing DIAGNOSTIC_TEST

whole genome sequencing of genomic DNA extracted from buccal swab

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients under routine medical care in hospitals and clinics located in Brazil with a clinical diagnosis of an hereditary cardiovascular disease.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Hospital do Coracao: lead
• Instituto Nacional de Cardiologia de Laranjeiras: collaborator
• Universidade Federal do Rio de Janeiro: collaborator

Study Sites (27)

Centro de Pesquisa Silvestre Santé

Rio Branco, Acre, 69915-030, Brazil

RECRUITING

Centro de Pesquisas Clínicas Dr. Marco Mota

Maceió, Alagoas, 57051-160, Brazil

RECRUITING

Hospital Universitário da Unifap

Macapá, Amapá, 68903-419, Brazil

RECRUITING

Hospital de Messejana Dr. Carlos Alberto Studart Gomes

Fortaleza, Ceará, 60840-285, Brazil

RECRUITING

Hospital Evangélico de Vila Velha

Vila Velha, Espírito Santo, 29118-060, Brazil

RECRUITING

Hospital Universitário Professor Edgard Santos

Salvador, Estado de Bahia, 40110-060, Brazil

RECRUITING

Hospital Ana Nery - HAN/SESAB

Salvador, Estado de Bahia, 40320-010, Brazil

RECRUITING

Instituto de Cardiologia e Transplantes do Distrito Federal

Brasília, Federal District, 70675-731, Brazil

RECRUITING

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

Goiânia, Goiás, 74605-050, Brazil

RECRUITING

Hospital Felicio Rocho - HFR

Belo Horizonte, Minas Gerais, 30110-934, Brazil

RECRUITING

Liga Mineira de Ressuscitação Cardiopulmonar

Belo Horizonte, Minas Gerais, 30130-110, Brazil

RECRUITING

Santa Casa de Misericórdia de Montes Claros

Montes Claros, Minas Gerais, 39401-001, Brazil

RECRUITING

Health & Care

Belém, Pará, 66093-055, Brazil

RECRUITING

Hospital Universitário Pedro Ernesto - UERJ

Rio de Janeiro, Rio de Janeiro, 20551-030, Brazil

RECRUITING

Instituto de Puericultura e Pediatria Martagão Gesteira

Rio de Janeiro, Rio de Janeiro, 21941-912, Brazil

RECRUITING

Hospital Universitário Clementino Fraga Filho - UFRJ

Rio de Janeiro, Rio de Janeiro, 21941-913, Brazil

RECRUITING

Instituto Nacional de Cardiologia

Rio de Janeiro, Rio de Janeiro, 22240-006, Brazil

RECRUITING

Hospital Universitário Onofre Lopes - UFRN

Natal, Rio Grande do Norte, 59012-300, Brazil

RECRUITING

Hospital das Clínicas de Porto Alegre - UFRGS

Porto Alegre, Rio Grande do Sul, 90035-903, Brazil

RECRUITING

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

Porto Alegre, Rio Grande do Sul, 90040-370, Brazil

RECRUITING

Instituto de Pesquisa e Ensino em Saúde - IPES

Porto Velho, Rondônia, 76801-098, Brazil

RECRUITING

Centro Multidisciplinar de Ensino Especializado e Pesquisa Ltda

Joinville, Santa Catarina, 89204-250, Brazil

RECRUITING

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

Bragança Paulista, São Paulo, 12916-542, Brazil

RECRUITING

Instituto PENSI

Consolação, São Paulo, 01228-200, Brazil

RECRUITING

Hospital Universitário da Universidade Federal de São Carlos

São Carlos, São Paulo, 13566-448, Brazil

RECRUITING

Hospital do Coracao

São Paulo, São Paulo, 04004-030, Brazil

RECRUITING

Universidade Federal do Tocantins

Palmas, Tocantins, 77001-090, Brazil

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Saliva or cheek swabs

MeSH Terms

Conditions

Cardiomyopathy, Hypertrophic; Cardiomyopathy, Dilated; Cardiomyopathy, Restrictive; Arrhythmogenic Right Ventricular Dysplasia; Hyperlipoproteinemia Type II; Marfan Syndrome; Ehlers-Danlos Syndrome, Type IV; Loeys-Dietz Syndrome; Long QT Syndrome; Short Qt Syndrome; Brugada Syndrome; Polymorphic Catecholaminergic Ventricular Tachycardia; Death, Sudden, Cardiac

Condition Hierarchy (Ancestors)

Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Cardiomegaly; Laminopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heart Defects, Congenital; Cardiovascular Abnormalities; Congenital Abnormalities; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Abnormalities, Multiple; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Aortic Dissection; Dissection, Blood Vessel; Aneurysm; Vascular Diseases; Ehlers-Danlos Syndrome; Hemostatic Disorders; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Skin Diseases, Genetic; Collagen Diseases; Skin Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Aortic Aneurysm; Aortic Diseases; Arrhythmias, Cardiac; Cardiac Conduction System Disease; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Tachycardia, Ventricular; Tachycardia; Heart Arrest; Death, Sudden; Death

Central Study Contacts

Adriana Bastos Carvalho, MD PhD

CONTACT

+552130372105; carvalhoab@biof.ufrj.br

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Target Duration: 6 Months
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 6, 2024
• First Posted: August 9, 2024
• Study Start: April 30, 2025
• Primary Completion (Estimated): August 31, 2026
• Study Completion (Estimated): August 31, 2026
• Last Updated: May 8, 2026

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

BR (27)