Health TrialsbyHealthPanel

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

ConditionsCardiomyopathy, HypertrophicCardiomyopathy, DilatedCardiomyopathy RestrictiveArrhythmogenic Right Ventricular DysplasiaNon-Compaction CardiomyopathyFamilial HypercholesterolemiaMarfan SyndromeEhlers-Danlos Syndrome, Vascular TypeLoeys-Dietz SyndromeLong QT SyndromeShort Qt SyndromeBrugada SyndromeCatecholaminergic Polymorphic Ventricular TachycardiaSudden Cardiac Death
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorHospital do Coracao

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

Signature absent from informed consent form

Inadequate buccal swab (sample may be collected twice)

Trial population

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

Trial design

Design model

Family-based

Time perspective

Prospective

Treatments tested in this trial

  • whole genome sequencing

    Diagnostic test

    whole genome sequencing of genomic DNA extracted from buccal swab

Treatment groups

No treatment groups listed

Trial outcomes

Primary outcomes

1

Diagnostic yield

Percentage of participants with pathogenic or likely pathogenic variants

Time frame
30 months after study start date
2

Genetic diversity

Determine genes that cause hereditary cardiovascular diseases in Brazil

Time frame
30 months after study start date
3

Variant frequency

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

Time frame
30 months after study start date

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Hospital do Coracao

Lead sponsor

Instituto Nacional de Cardiologia de Laranjeiras

Collaborator

Universidade Federal do Rio de Janeiro

Collaborator

Source ClinicalTrials.gov
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