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Brazil launches massive heart gene hunt to unlock hereditary mysteries

NCT ID NCT06546137

Knowledge-focused Sponsor: Hospital do Coracao Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is building a registry of 1,211 people in Brazil who have inherited heart conditions like cardiomyopathy, arrhythmias, and Marfan syndrome. Researchers will collect DNA samples and medical information to discover which genes are most commonly affected and how often these genetic changes occur in the Brazilian population. The goal is to improve diagnosis and care for these hereditary diseases.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,211 people

The number the study aims to enrol. It can still change while the study runs.

Started

Apr 2025

Expected to finish

Aug 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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)

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Get notified about this study

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Conditions

The condition(s) this trial relates to.

arrhythmogenic right ventricular cardiomyopathy Brugada syndrome catecholaminergic polymorphic ventricular tachycardia Death, Sudden, Cardiac dilated cardiomyopathy Ehlers-Danlos Syndrome, Type IV Ehlers-Danlos syndrome, vascular type familial hypercholesterolemia Hyperlipoproteinemia Type II hypertrophic cardiomyopathy Loeys-Dietz syndrome long QT syndrome Marfan syndrome non-compaction cardiomyopathy Polymorphic Catecholaminergic Ventricular Tachycardia restrictive cardiomyopathy short QT syndrome sudden cardiac arrest

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Arrhythmogenic right ventricular dysplasia Brugada syndrome Cardiomyopathy restrictive Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Catecholaminergic polymorphic ventricular tachycardia Ehlers-Danlos syndrome, vascular type Familial hypercholesterolemia Loeys-Dietz syndrome Long QT syndrome Marfan syndrome Non-compaction cardiomyopathy Short QT syndrome Sudden cardiac death

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    27 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Centro Multidisciplinar de Ensino Especializado e Pesquisa Ltda

    RECRUITING

    Joinville, Santa Catarina, 89204-250, Brazil

  • Centro de Pesquisa Silvestre Santé

    RECRUITING

    Rio Branco, Acre, 69915-030, Brazil

  • Centro de Pesquisas Clínicas Dr. Marco Mota

    RECRUITING

    Maceió, Alagoas, 57051-160, Brazil

  • Health & Care

    RECRUITING

    Belém, Pará, 66093-055, Brazil

  • Hospital Ana Nery - HAN/SESAB

    RECRUITING

    Salvador, Estado de Bahia, 40320-010, Brazil

  • Hospital Evangélico de Vila Velha

    RECRUITING

    Vila Velha, Espírito Santo, 29118-060, Brazil

  • Hospital Felicio Rocho - HFR

    RECRUITING

    Belo Horizonte, Minas Gerais, 30110-934, Brazil

  • Hospital Universitário Clementino Fraga Filho - UFRJ

    RECRUITING

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

  • Hospital Universitário Onofre Lopes - UFRN

    RECRUITING

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

  • Hospital Universitário Pedro Ernesto - UERJ

    RECRUITING

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

  • Hospital Universitário Professor Edgard Santos

    RECRUITING

    Salvador, Estado de Bahia, 40110-060, Brazil

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

    RECRUITING

    Bragança Paulista, São Paulo, 12916-542, Brazil

  • Hospital Universitário da Unifap

    RECRUITING

    Macapá, Amapá, 68903-419, Brazil

  • Hospital Universitário da Universidade Federal de São Carlos

    RECRUITING

    São Carlos, São Paulo, 13566-448, Brazil

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

    RECRUITING

    Goiânia, Goiás, 74605-050, Brazil

  • Hospital das Clínicas de Porto Alegre - UFRGS

    RECRUITING

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

  • Hospital de Messejana Dr. Carlos Alberto Studart Gomes

    RECRUITING

    Fortaleza, Ceará, 60840-285, Brazil

  • Hospital do Coracao

    RECRUITING

    São Paulo, São Paulo, 04004-030, Brazil

  • Instituto Nacional de Cardiologia

    RECRUITING

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

  • Instituto PENSI

    RECRUITING

    Consolação, São Paulo, 01228-200, Brazil

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

    RECRUITING

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

  • Instituto de Cardiologia e Transplantes do Distrito Federal

    RECRUITING

    Brasília, Federal District, 70675-731, Brazil

  • Instituto de Pesquisa e Ensino em Saúde - IPES

    RECRUITING

    Porto Velho, Rondônia, 76801-098, Brazil

  • Instituto de Puericultura e Pediatria Martagão Gesteira

    RECRUITING

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

  • Liga Mineira de Ressuscitação Cardiopulmonar

    RECRUITING

    Belo Horizonte, Minas Gerais, 30130-110, Brazil

  • Santa Casa de Misericórdia de Montes Claros

    RECRUITING

    Montes Claros, Minas Gerais, 39401-001, Brazil

  • Universidade Federal do Tocantins

    RECRUITING

    Palmas, Tocantins, 77001-090, Brazil

More trials for these conditions

Other studies related to the condition(s) this trial covers.