MedTrace Logo

Genetic Analysis of Heart Channelopathies in Brazilian Patients and Their Relatives

NCT04832126 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2021-04-06

No results posted yet for this study

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

Interventions

GENETIC

Genetic analysis

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).

Sponsors & Collaborators

  • D'Or Institute for Research and Education

    lead OTHER

Principal Investigators

  • Nilson O Araujo, Dr · D'Or Institute for Research and Education (IDOR)

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-01-01
Primary Completion
2021-08-01
Completion
2024-07-31

Countries

  • Brazil

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04832126 on ClinicalTrials.gov