Cardiomyopathy, HypertrophicRENOMICA-HcorNCT06546137
National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
An observational study of Cardiomyopathy, Hypertrophic and Cardiomyopathy, Dilated, run by Hospital do Coracao at 27 sites in Brazil.
Trial 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?… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Cardiomyopathy, Hypertrophic, Cardiomyopathy, Dilated, Cardiomyopathy Restrictive
- What is being tested?
- whole genome sequencing
- How many people
- 1,211 participants
- Where
- 27 sitesBrazil
- Study dates
- 30 Apr 2025to 31 Aug 2026
- How long will I take part?
- 6 Months
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients under routine medical care in hospitals and clinics located in Brazil with a clinical diagnosis of an hereditary cardiovascular disease.
Who may be able to join
- 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
Who cannot join
- Signature absent from informed consent form
- Inadequate buccal swab (sample may be collected twice)
Trial locations and contacts
27 sites in 1 country. Contact the study team or a site near you to ask about taking part.
27 sites in 1 country
Brazil27 sites, 27 recruiting
- Recruiting
Health & Care
Belém, Pará, 66093-055
Jonathan S. Sarraf, +5591980295594, jonathansouzasarraf@gmail.com
Jonathan S. Sarraf
- Recruiting
Hospital Felicio Rocho - HFR
Belo Horizonte, Minas Gerais, 30110-934
Maria da Consolação Vieira Moreira, +553135147000, mariacvmoreira@gmail.com
Maria da Consolação Vieira Moreira
- Recruiting
Liga Mineira de Ressuscitação Cardiopulmonar
Belo Horizonte, Minas Gerais, 30130-110
Eduardo Back Stenick, +553132130004, eduardosternick@gmail.com
Eduardo Back Stenick
- Recruiting
Hospital Universitário São Francisco na Providência de Deus, USF-SP
Bragança Paulista, São Paulo, 12916-542
Murillo O. Antunes, +551124901130, dr.murilloantunes@gmail.com
Murillo O. Antunes
- Recruiting
Instituto de Cardiologia e Transplantes do Distrito Federal
Brasília, Federal District, 70675-731
Cristina Machado Camargo Afiune, +556134511000, cris.afiune@gmail.com
Cristina Machado Camargo Afiune
- Recruiting
Instituto PENSI
Consolação, São Paulo, 01228-200
Mauro Fisberg, +551195776-9213, mauro.fisberg@gmail.com
Mauro Fisberg
- Recruiting
Hospital de Messejana Dr. Carlos Alberto Studart Gomes
Fortaleza, Ceará, 60840-285
Sônia Maria Cavalcante da Rocha, +558531014151, sonia.mrcavalcante@gmail.com
Sônia Maria Cavalcante da Rocha
- Recruiting
Hospital das Clínicas da Universidade Federal de Goiás - HC-UFG
Goiânia, Goiás, 74605-050
Weimar Kunz Sebba Barroso de Souza, +556232698200, sebbabarroso@gmail.com
Weimar Kunz Sebba Barroso de Souza
- Recruiting
Centro Multidisciplinar de Ensino Especializado e Pesquisa Ltda
Joinville, Santa Catarina, 89204-250
Kárila Scarduelli Luciano, +5547992007079, karilasl@gmail.com
Kárila Scarduelli Luciano
- Recruiting
Hospital Universitário da Unifap
Macapá, Amapá, 68903-419
Álan B. F. Rebelo, +559632136100, alan.rebelo@ebserh.gov.br
Álan B. F. Rebelo
- Recruiting
Centro de Pesquisas Clínicas Dr. Marco Mota
Maceió, Alagoas, 57051-160
Marco Antonio Mota Gomes, +558232155066, mota-gomes@uol.com.br
Marco Antonio Mota Gomes
- Recruiting
Santa Casa de Misericórdia de Montes Claros
Montes Claros, Minas Gerais, 39401-001
Luciano Freitas Fernandes, +553832248000, luclucianofreitas@yahoo.com.br
Luciano Freitas Fernandes
- Recruiting
Hospital Universitário Onofre Lopes - UFRN
Natal, Rio Grande do Norte, 59012-300
Rosiane Viana Zuza Diniz, +558433425000, rosianevzdiniz@gmail.com
Rosiane Viana Zuza Diniz
- Recruiting
Universidade Federal do Tocantins
Palmas, Tocantins, 77001-090
Luciana Carla Holzbach, +556332294350, luciana.carla@mail.uft.edu.br
Luciana Carla Holzbach
- Recruiting
Hospital das Clínicas de Porto Alegre - UFRGS
Porto Alegre, Rio Grande do Sul, 90035-903
Fabiano de Oliveira Poswar, +555133598000, fposwar@hcpa.edu.br
Fabiano de Oliveira Poswar
- Recruiting
Instituto de Cardiologia - Fundação Universitária de Cardiologia de Porto Alegre - IC-FUC
Porto Alegre, Rio Grande do Sul, 90040-370
Maico Furlanetto, +555132303600, maicofurlanetto@gmail.com
Maico Furlanetto
- Recruiting
Instituto de Pesquisa e Ensino em Saúde - IPES
Porto Velho, Rondônia, 76801-098
Mariana Pinheiro Alves Vasconcelos, +5569993787257, dbpfall@gmail.com
Mariana Pinheiro Alves Vasconcelos
- Recruiting
Centro de Pesquisa Silvestre Santé
Rio Branco, Acre, 69915-030
Odilson Marcos Silvestre, +5568999211100, odilsonms@gmail.com
Odilson Marcos Silvestre
- Recruiting
Hospital Universitário Pedro Ernesto - UERJ
Rio de Janeiro, Rio de Janeiro, 20551-030
Marcelo Imbroinise Bittencourt, +552128688000, marcelo.bittencourt@hupe.uerj.br
Marcelo Imbroinise Bittencourt
- Recruiting
Instituto de Puericultura e Pediatria Martagão Gesteira
Rio de Janeiro, Rio de Janeiro, 21941-912
Nathalie J. M. Bravo Valenzuela, +552139384816, njmbravo@cardiol.br
Nathalie J. M. Bravo Valenzuela
- Recruiting
Hospital Universitário Clementino Fraga Filho - UFRJ
Rio de Janeiro, Rio de Janeiro, 21941-913
Tais Hanae Kasai Brunswick, +552139382789, kasaitais@biof.ufrj.br
Tais Hanae Kasai Brunswick
- Recruiting
Instituto Nacional de Cardiologia
Rio de Janeiro, Rio de Janeiro, 22240-006
Helena Cramer Veiga Rey, MD PhD, +552130372105, hcramer0504@gmail.com
Helena Cramer Veiga Rey
- Recruiting
Hospital Universitário Professor Edgard Santos
Salvador, Estado de Bahia, 40110-060
Luiz Pereira de Magalhães, MD PhD, +557136463400, luizmagalhaes12@gmail.com
Luiz Pereira de Magalhães
- Recruiting
Hospital Ana Nery - HAN/SESAB
Salvador, Estado de Bahia, 40320-010
Mauricio Alves Barreto, +557131171800, mauricioabarreto@uol.com.br
Mauricio Alves Barreto
- Recruiting
Hospital Universitário da Universidade Federal de São Carlos
São Carlos, São Paulo, 13566-448
Meliza Roscani, +551635092400, meliza.roscani@ufscar.br
Meliza Roscani
- Recruiting
Hospital do Coracao
São Paulo, São Paulo, 04004-030
Otavio Eboli, +551130536611, ceclin.cardio@outlook.com
Otavio Eboli
- Recruiting
Hospital Evangélico de Vila Velha
Vila Velha, Espírito Santo, 29118-060
Carina Laranja Mattos Barreto, +552799513-6656, claranjamattos@gmail.com
Carina Laranja Mattos Barreto
About this study
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
- Cardiomyopathy, Hypertrophic, Cardiomyopathy, Dilated, Cardiomyopathy Restrictive, Arrhythmogenic Right Ventricular Dysplasia, Non-Compaction Cardiomyopathy, Familial Hypercholesterolemia
- Being tested
- whole genome sequencing
- Keywords
- hereditary cardiovascular diseases, whole genome sequencing
- Medical subject headings
- Cardiomyopathy, Hypertrophic, Cardiomyopathy, Dilated, Cardiomyopathy, Restrictive, Arrhythmogenic Right Ventricular Dysplasia, Hyperlipoproteinemia Type II, Marfan Syndrome, Ehlers-Danlos Syndrome, Type IV, Loeys-Dietz Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
whole genome sequencingDiagnostic test
whole genome sequencing of genomic DNA extracted from buccal swab
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic yield
Percentage of participants with pathogenic or likely pathogenic variants
Measured: 30 months after study start date
Genetic diversity
Determine genes that cause hereditary cardiovascular diseases in Brazil
Measured: 30 months after study start date
Variant frequency
Determine the frequency of disease-causing and benign variants in the Brazilian population
Measured: 30 months after study start date
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Aug 2024
- Study start30 Apr 2025
- Primary completion31 Aug 2026 (estimated)
- Study completion31 Aug 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cardiomyopathy, HypertrophicStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 1,211 participants (estimated)
- Target duration
- 6 Months
Sponsor and investigators
- Lead sponsor
- Hospital do Coracao
- Sponsor type
- University, hospital or other
- Collaborators
- Instituto Nacional de Cardiologia de Laranjeiras, Universidade Federal do Rio de Janeiro
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06546137
- Sponsor's protocol ID
- RENOMICA-Hcor
- Acronym
- RENOMICA-Hcor
- Status last verified
- Nov 2025
- First submitted
- 6 Aug 2024
- Last updated
- 8 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Genomic data are sensitve and will not be shared for individual participants
Study at a glance
From the registry record, last updated by the sponsor on 8 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
- ClinicalTrials.gov ID
- NCT06546137
- Acronym / sponsor ID
- RENOMICA-Hcor / RENOMICA-Hcor
- Conditions
- Cardiomyopathy, Hypertrophic, Cardiomyopathy, Dilated, Cardiomyopathy Restrictive, Arrhythmogenic Right Ventricular Dysplasia, Non-Compaction Cardiomyopathy, Familial Hypercholesterolemia
- Keywords
- hereditary cardiovascular diseases, whole genome sequencing
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,211 participants (estimated)
- Lead sponsor
- Hospital do CoracaoUniversity, hospital or other
- Collaborators
- Instituto Nacional de Cardiologia de Laranjeiras, Universidade Federal do Rio de Janeiro
- Study start
- 30 Apr 2025 (actual)
- Primary completion
- 31 Aug 2026 (estimated)
- Study completion
- 31 Aug 2026 (estimated)
- First posted
- 9 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Target follow-up
- 6 Months
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients under routine medical care in hospitals and clinics located in Brazil with a clinical diagnosis of an hereditary cardiovascular disease.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (2 listed)
- Signature absent from informed consent form
- Inadequate buccal swab (sample may be collected twice)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| whole genome sequencingwhole genome sequencing of genomic DNA extracted from buccal swab | Diagnostic test | – |
Primary outcome
Diagnostic yield
Time frame: 30 months after study start date
Percentage of participants with pathogenic or likely pathogenic variants
Genetic diversity
Time frame: 30 months after study start date
Determine genes that cause hereditary cardiovascular diseases in Brazil
Variant frequency
Time frame: 30 months after study start date
Determine the frequency of disease-causing and benign variants in the Brazilian population
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 May 2026.
- Individual participant dataSharing planned: No. Genomic data are sensitve and will not be shared for individual participants
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
27 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cardiomyopathy, Hypertrophic and Cardiomyopathy, Dilated, run by Hospital do Coracao at 27 sites in Brazil.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 8 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 27 sites in Brazil. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Adriana Bastos Carvalho, MD PhD (+552130372105, carvalhoab@biof.ufrj.br), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic yield (time frame: 30 months after study start date). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 May 2026.