Genetic Analysis of Heart Channelopathies in Brazilian Patients and Their Relatives

NCT04832126 | Unknown

• 1 other identifier: PRJ1801
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

several genes have been associated with ion channel diseases, but a large number of families do not yet have an identified genetic cause. There is a lack of information on the genetic characteristics of channelopathies in Brazilians affected by these diseases. This study aims to carry out a comprehensive genetic analysis of cardiac channelopathies in Brazilian patients and their families. The study will involve 20 patients and 80 family members (a total of 100 individuals) accompanied by the Rede D'Or arrhythmia group in Rio de Janeiro. Individuals will be recruited and subjected to DNA sequencing and phenotypic evaluation, including clinical evaluation, echocardiography, 24-hour Holter or longer electrocardiographic monitoring. An integrated analysis of phenotype-genotype will be made in all individuals included in the study. Patients and their families will be followed up annually for 2 to 5 years through clinical evaluations and the same complementary methods described. The DNA sequencing of patients and their families may contribute to improve the diagnosis of channelopathies and allow the determination of the pattern of occurrence of the disease in the cases involved. Besides, this study may lead to the discovery of new genetic variants associated with channelopathies that will serve as a basis for designing and carrying out broader molecular epidemiological studies. The study of the molecular genetics of channelopathies is important mainly so that patients can avoid sudden death, but also for the medical community, researchers, laboratories, companies involved in the production of medical devices, and public health authorities

Conditions

Channelopathies

Keywords

channelopathies; arrhythmia; genetic analysis; Sudden cardiac death

Outcome Measures

Primary Outcomes (1)

• phenotypic analysis

  by genomic DNA purified from peripheral blood or mouth swabs.

  Patients and their families will be followed up to 5 years

Study Arms (2)

Patient

patients with channelopathies

Genetic: Genetic analysis

Family

relatives of patients with channelopathies

Genetic: Genetic analysis

Interventions

Genetic analysis GENETIC

Genomic DNA will be purified from peripheral blood or mouth swabs. Whole blood will be collected by peripheral phlebotomy in tubes containing K2EDTA as an anticoagulant. Blood samples will be stored at 4-8 oC for up to a week before DNA purification. Mouth swabs will be collected using the ORAcollect • DNA kit (OCR-100) (DNA Genotek Inc., Canada). Genomic DNA from whole blood or mouth swab samples will be purified using DNeasy Blood \& Tissue Kit (QIAGEN).

Family; Patient

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients and family members accompanied by the arrhythmia group of Rede D'Or, Rio de Janeiro, Brazil. The number of individuals we intend to include in the study refers to a convenience sample based on patients currently followed by the group of specialists from Rede D'Or who are part of the study and their families. The choice of up to 4 family members per proband is justified by the fact that this number of related individuals is, in most cases, sufficient to determine the pattern of occurrence and segregation of phenotypes.

You may qualify if:

• Patients from Rede D'or São Luiz and their relatives
• Patients whit arrhythmia and their relatives
• Presence of inheritance pattern of causal genetic variants or those associated with phenotypes jointly defined as cardiac channelopathies and their relatives

You may not qualify if:

• None

Sponsors & Collaborators

• D'Or Institute for Research and Education: lead

Study Sites (1)

D'Or Institute for Research and Education (IDOR)

Rio de Janeiro, 22281-100, Brazil

RECRUITING

Related Publications (23)

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Biospecimen

Retention: SAMPLES WITH DNA

Genomic DNA is purified from peripheral blood or mouth swabs

MeSH Terms

Conditions

Channelopathies; Arrhythmias, Cardiac; Death, Sudden, Cardiac

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Pathologic Processes; Pathological Conditions, Signs and Symptoms; Heart Diseases; Cardiovascular Diseases; Heart Arrest; Death, Sudden; Death

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Nilson O Araujo, Dr

  D'Or Institute for Research and Education (IDOR)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Nilson O Araujo, Dr.

CONTACT

+ 55 21 3883-6000; nilson.ojunior@rededor.com.br

Renata J Moll, Dr.

CONTACT

+55 21 3883-6000; renata.moll@idor.org

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr.

Study Record Dates

• First Submitted: March 30, 2021
• First Posted: April 5, 2021
• Study Start: January 1, 2018
• Primary Completion: August 1, 2021
• Study Completion: July 31, 2024
• Last Updated: April 6, 2021

Record last verified: 2021-04

Locations

BR (1)