ClinicalTrials.gov record NCT06546137

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexAll
LocationBrazil
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective, family-based observational registry collects clinical and genomic data from people in Brazil who have a clinical diagnosis of a hereditary cardiovascular disease. Participants provide health information during routine medical visits and give a buccal swab for whole genome sequencing; the study lists a target duration of 6 months.

What it is studying. The study aims to identify which genes are most often involved in hereditary cardiovascular diseases in Brazil, measure how frequently pathogenic and benign genetic variants occur, and report the percentage of participants with pathogenic or likely pathogenic variants.

What the researchers hope to learn. Create a national registry combining clinical and genomic data; determine which genes cause hereditary cardiovascular diseases in Brazil; estimate the frequency of disease-causing and benign variants; and calculate the diagnostic yield of whole genome sequencing in this population.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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 being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Diagnostic test
  • whole genome sequencing

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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)

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants are interviewed during a routine medical visit and asked to provide medical and personal information for the study record. They will receive genetic counseling and provide a buccal (cheek) swab for DNA collection; the sample will be used for whole genome sequencing. If the buccal swab is inadequate, the study may request a second collection. Study participation is planned for a period noted in the record (target duration: 6 months).

How the study is structured. A prospective, family-based observational registry. Participants are interviewed during routine care, clinical data are recorded, and a buccal swab is taken for whole genome sequencing. No experimental treatment is assigned; data and genomic results are collected and entered into the registry. The record lists a target duration of 6 months and primary outcome assessments planned up to 30 months after study start.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Brazil. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Loeys-Dietz syndrome

This trial is also listed on this site under Marfan syndrome and vascular Ehlers-Danlos syndrome.

Clinical trials4 trials listed for Loeys-Dietz syndromeEvery trial the registry lists for Loeys-Dietz syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Loeys-Dietz syndrome researchLatest monthly update: September 2026. Includes: Gene symptom clusters. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Apr 30, 2025
Primary completion
Aug 31, 2026 (estimated)
Study completion
Aug 31, 2026 (estimated)
Target enrollment
1211 participants (estimated)
Last updated on registry
May 8, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Hospital do Coracao
Collaborators
  • Instituto Nacional de Cardiologia de Laranjeiras
  • Universidade Federal do Rio de Janeiro

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (27)

  • Centro de Pesquisa Silvestre SantéRecruiting

    Rio Branco, Acre, 69915-030 · Brazil

  • Centro de Pesquisas Clínicas Dr. Marco MotaRecruiting

    Maceió, Alagoas, 57051-160 · Brazil

  • Hospital Universitário da UnifapRecruiting

    Macapá, Amapá, 68903-419 · Brazil

  • Hospital de Messejana Dr. Carlos Alberto Studart GomesRecruiting

    Fortaleza, Ceará, 60840-285 · Brazil

  • Hospital Evangélico de Vila VelhaRecruiting

    Vila Velha, Espírito Santo, 29118-060 · Brazil

  • Hospital Universitário Professor Edgard SantosRecruiting

    Salvador, Estado de Bahia, 40110-060 · Brazil

  • Hospital Ana Nery - HAN/SESABRecruiting

    Salvador, Estado de Bahia, 40320-010 · Brazil

  • Instituto de Cardiologia e Transplantes do Distrito FederalRecruiting

    Brasília, Federal District, 70675-731 · Brazil

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

    Goiânia, Goiás, 74605-050 · Brazil

  • Hospital Felicio Rocho - HFRRecruiting

    Belo Horizonte, Minas Gerais, 30110-934 · Brazil

Terms used on this page · explanations by MedicalUpdates.ai

registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
informed consent form
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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