Clinical trial NCT06546137: National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
Official title: National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Cardiomyopathy, Hypertrophic
Cardiomyopathy, Dilated
Cardiomyopathy Restrictive
Arrhythmogenic Right Ventricular Dysplasia
Non-Compaction Cardiomyopathy
Familial Hypercholesterolemia
Marfan Syndrome
Ehlers-Danlos Syndrome, Vascular Type
Loeys-Dietz Syndrome
Long QT Syndrome
Short Qt Syndrome
Brugada Syndrome
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden Cardiac Death
Keywords: hereditary cardiovascular diseases
whole genome sequencing
Lead sponsor: Hospital do Coracao
Sponsor class: OTHER
Collaborators: name: Instituto Nacional de Cardiologia de Laranjeiras
name: Universidade Federal do Rio de Janeiro
First posted: 2024-08-09
Enrollment: 600
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients under routine medical care in hospitals and clinics located in Brazil with a clinical diagnosis of an hereditary cardiovascular disease.

Brief 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? Participants will be interviewed in routine medical care visits and their DNA will be sequenced.


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)

Primary outcomes:
measure: Diagnostic yield
timeFrame: 30 months after study start date
measure: Genetic diversity
timeFrame: 30 months after study start date
measure: Variant frequency
timeFrame: 30 months after study start date
Secondary outcomes:
Other outcomes:
Locations:
city: Rio Branco
country: Brazil
facility: Centro de Pesquisa Silvestre Santé
state: AC
city: Maceió
country: Brazil
facility: Centro de Pesquisas Clínicas Dr. Marco Mota
state: Alagoas
city: Salvador
country: Brazil
facility: Hospital Ana Nery - HAN/SESAB
state: BA
city: Fortaleza
country: Brazil
facility: Hospital de Messejana Dr. Carlos Alberto Studart Gomes
state: CE
city: Brasília
country: Brazil
facility: Instituto de Cardiologia e Transplantes do Distrito Federal
state: DF
city: Goiânia
country: Brazil
facility: Hospital das Clínicas da Universidade Federal de Goiás - HC-UFG
state: GO
city: Belo Horizonte
country: Brazil
facility: Hospital Felicio Rocho - HFR
state: MG
city: Belo Horizonte
country: Brazil
facility: Liga Mineira de Ressuscitação Cardiopulmonar
state: MG
city: Montes Claros
country: Brazil
facility: Hospital Universitário Clemente de Faria - Unimontes
state: MG
city: Rio de Janeiro
country: Brazil
facility: Hospital Universitário Pedro Ernesto - UERJ
state: RJ
city: Rio de Janeiro
country: Brazil
facility: Hospital Universitário Clementino Fraga Filho - UFRJ
state: RJ
city: Natal
country: Brazil
facility: Hospital Universitário Onofre Lopes - UFRN
state: RN
city: Porto Velho
country: Brazil
facility: Instituto de Pesquisa e Ensino em Saúde - IPES
state: RO
city: Boa Vista
country: Brazil
facility: Centro Oncológico de Roraima - CECOR
state: RR
city: Ijuí
country: Brazil
facility: Fundação de Integração, Desenvolvimento e Educação do Noroeste do Estado - FIDENE
state: RS
city: Porto Alegre
country: Brazil
facility: Hospital das Clínicas de Porto Alegre - UFRGS
state: RS
city: Porto Alegre
country: Brazil
facility: Instituto de Cardiologia - Fundação Universitária de Cardiologia de Porto Alegre - IC-FUC
state: RS
city: Florianópolis
country: Brazil
facility: Hospital Universitário Professor Polydoro Ernani de São Thiago - UFSC
state: Santa Catarina
city: Joinville
country: Brazil
facility: Centro Multidisciplinar de Ensino Especializado e Pesquisa Ltda
state: Santa Catarina
city: São Carlos
country: Brazil
facility: Hospital Universitário da Universidade Federal de São Carlos
state: SP
city: São Paulo
country: Brazil
facility: Hospital do Coracao
state: SP
city: São Paulo
country: Brazil
facility: Hospital das Clínicas da Faculdade de Medicina da USP - Instituto da Criança
state: SP
city: Palmas
country: Brazil
facility: Universidade Federal do Tocantins
state: TO
Study officials:
References: