National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: whole genome sequencing.
- Who it may be relevant to
- Registry conditions: Cardiomyopathy, Hypertrophic, Cardiomyopathy, Dilated, Cardiomyopathy Restrictive, Arrhythmogenic Right Ventricular Dysplasia. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Brazil
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Interventions
- Diagnostic test whole genome sequencing
whole genome sequencing of genomic DNA extracted from buccal swab
Primary outcome measures
- Diagnostic yield [Time frame: 30 months after study start date]
- Genetic diversity [Time frame: 30 months after study start date]
- Variant frequency [Time frame: 30 months after study start date]
Eligibility criteria
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)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Family-based
Study locations
Brazil · 27 centers
- Centro de Pesquisa Silvestre Santé — Rio Branco
- Centro de Pesquisas Clínicas Dr. Marco Mota — Maceió
- Hospital Universitário da Unifap — Macapá
- Hospital de Messejana Dr. Carlos Alberto Studart Gomes — Fortaleza
- Hospital Evangélico de Vila Velha — Vila Velha
- Hospital Universitário Professor Edgard Santos — Salvador
- Hospital Ana Nery - HAN/SESAB — Salvador
- Instituto de Cardiologia e Transplantes do Distrito Federal — Brasília
- … and 19 more centers
Identifiers
NCT: NCT06546137 · RENOMICA-Hcor