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Genetic Analysis of Heart Channelopathies in Brazilian Patients and Their Relatives

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ClinicalTrials.gov Identifier: NCT04832126
Recruitment Status : Recruiting
First Posted : April 5, 2021
Last Update Posted : April 6, 2021
Sponsor:
Information provided by (Responsible Party):
Nilson Araújo de Oliveira Junior, D'Or Institute for Research and Education

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

Condition or disease Intervention/treatment
Channelopathies Genetic: Genetic analysis

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Analysis of Heart Channelopathies in Brazilian Patients and Their Relatives
Actual Study Start Date : January 1, 2018
Estimated Primary Completion Date : August 1, 2021
Estimated Study Completion Date : July 31, 2024

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Genetic Testing

Group/Cohort Intervention/treatment
Patient
patients with channelopathies
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).

Family
relatives of patients with channelopathies
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).




Primary Outcome Measures :
  1. phenotypic analysis [ Time Frame: Patients and their families will be followed up to 5 years ]
    by genomic DNA purified from peripheral blood or mouth swabs.


Biospecimen Retention:   Samples With DNA
Genomic DNA is purified from peripheral blood or mouth swabs


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • None

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04832126


Contacts
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Contact: Nilson O Araujo, Dr. + 55 21 3883-6000 nilson.ojunior@rededor.com.br
Contact: Renata J Moll, Dr. +55 21 3883-6000 renata.moll@idor.org

Locations
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Brazil
D'Or Institute for Research and Education (IDOR) Recruiting
Rio De Janeiro, Brazil, 22281-100
Contact: Nilson O Araujo, Dr.       nilson.oaraujo@rededor.com.br   
Contact: Renata J Moll, Dr.       renata.moll@idor.org   
Sponsors and Collaborators
D'Or Institute for Research and Education
Investigators
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Principal Investigator: Nilson O Araujo, Dr D'Or Institute for Research and Education (IDOR)
Publications of Results:
Abriel, H., & Zaklyazminskaya, E. V. (2013). Cardiac channelopathies: Genetic andmolecular mechanisms. Gene. https://doi.org/10.1016/j.gene.2012.12.061
Coumel P, Fidelle J, Lucet V, et al. Catecholamine-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases. Br Heart J 1978;40(Suppl):28-37

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Responsible Party: Nilson Araújo de Oliveira Junior, Dr., D'Or Institute for Research and Education
ClinicalTrials.gov Identifier: NCT04832126    
Other Study ID Numbers: PRJ1801
First Posted: April 5, 2021    Key Record Dates
Last Update Posted: April 6, 2021
Last Verified: April 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Nilson Araújo de Oliveira Junior, D'Or Institute for Research and Education:
channelopathies
arrhythmia
genetic analysis
Sudden cardiac death
Additional relevant MeSH terms:
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Channelopathies
Pathologic Processes