Genome-Wide Association Study With the Aim of Implantable Cardioverter Defibrillator Implantation Genophenotypic Risk Stratification
ICDGPSS
The Comprehensive Investigation to Define a New Scoring System for ICD Implantation Based on Genotypic and Phenotypic Criteria; A Multidisciplinary and Multicentral Genome-Wide Association Study
2 other identifiers
observational
2,500
1 country
1
Brief Summary
This clinical study will be conducted with funding from European Innovation Council(EIC) after approval of the fund grant and is part of our organization's European Pathfinder Project(Ref: HORIZON-EIC-2022-PATHFINDERCHALLENGES-01). The clinical study step of this project will be started in a retrospective time prospective manner by gathering the phenotypic(clinical measuring factors) data from patients who underwent ICD implantation therapy. The study will be done as a case-control type in which patients who did not get any shocks in 6 months post-implantation will be allocated to the control group. A customized and highly specific cardiogenomics panel will be designed and ordered to be specially manufactured as a standard kit by Illumina® (San Diego, California, U.S.) following an exhaustive investigation for collecting genetic variants which correlated to cardiovascular development. Mentioned kit bears the standard and validated technology which is part of the genetic tests routine and is being produced by Illumina® incorporate. However, as an option manufacturer is designing custom kits for research purposes by getting the desired variant lists using the same technology. Accordingly, enrolled patients in the study will be prospectively sampled ( Non-Invasive saliva sampling) for getting genetically analysed by Illumina®'s Infinium Assay Microarray platform with fully customized 700,000 single nucleotide polymorphism kits. The result of this sampling will be data and statistically analysed in a genome-wide association study(GWAS) manner by considering the 5x10-8 p.value and will be associated with each phenotypic parameter. Accordingly, the study will assess the genetic risk stratification in ICD patients in a much more detailed fashion. Following this assessment genophenotypic statistical analysed will be done to combine both parameters and generate a formula for scoring the indicator factors based on each odds ratio. Correspondingly, this new scaling formula will be analysed, verified and validated further by a randomized sampling of the population in our study before being stated. Additionally, This study will not only help to improve current genetic polymorphism clinal significant status (pathogenicity and significance of variant) but also can associate new markers with high significance that can be directly used in clinical screening, diagnosis or clinical approaches.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Feb 2023
Typical duration for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
October 12, 2022
CompletedFirst Posted
Study publicly available on registry
October 17, 2022
CompletedStudy Start
First participant enrolled
February 1, 2023
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 1, 2024
CompletedStudy Completion
Last participant's last visit for all outcomes
March 1, 2025
CompletedOctober 17, 2022
October 1, 2022
1.3 years
October 12, 2022
October 12, 2022
Conditions
Keywords
Outcome Measures
Primary Outcomes (3)
Revealing SNP variants related to phenotypic measurement factors
ICD Shock, Sudden Cardiac Death, Ventricular Arrythmia and ICD prognosis related genetic polymorphism variant
2024MAY
GENOPHENOTYPIC risk stratification
Results of genotype and phenotype statistical analysis
2024DEC
Comprehensive genophenotypic scoring system formula
a formula that is based on genetic and phenotypic parameters that can be used as criteria for ICD implantation indication
2025MARCH
Secondary Outcomes (1)
offering a comprehensive cardiogenetic kit
2025MARCH
Other Outcomes (1)
comprehensive local demographic statistics
2024DEC
Study Arms (3)
Experimental group
Patients with ICD who received at least one electric shock in 6 months after ICD implantation
Control Group
Patients with ICD who didnot received any electric shock in 6 months after ICD implantation
Healthy Group
Healthy Volunteers This group will be used for related bioinformatic analysis (DATA analysis stage) but not in statistical analysis
Interventions
There are two types of intervention in this ambidirectional study. 1. Non-Invasive Saliva Sampling will be done for DNA extraction for the purpose of genetic analysis. This would be the prospective sampling and it's not part of the related medical centre's clinical routine. 2. ICD that is already implanted in the patients and had been indicated by related medical centre's clinical routine approach. This is not a prospective approach to this study since the study would be retrospectively gathered phenotypic parameters from the hospital data records.
Eligibility Criteria
The study population are the ICD-implanted patients according to exclusion and inclusion criteria. No randomization will be done for patient selection and group allocation (the validation stage will be done by randomization). An extra-healthy volunteer will be included for bioinformatic data analysis.
You may qualify if:
- ICD-implanted patients (both for primary and secondary intervention)
- Being a volunteer for the study
- Adequacy in understanding the study risks and accepting the Informed Consent Form
- Official acceptance of the legal and official parents (both father and mother), If younger than 18 years old
You may not qualify if:
- The patient who does not volunteer to involve to the study.
- Diagnosis of underlying arrhythmogenic disease (Structural Heart disease, Brugada, Arrhythmogenic right ventricular dysplasia, etc.)
- Development of electric shock due to acute coronary syndrome
- Atrial Fibrillation (AFib) With Rapid Ventricular Response
- Electric shock in patients with electrolyte imbalance-induced VT/VF
- Electric Shock in a patient with acute myocarditis-induced ventricular arrhythmias
- Patients that had an electric shock because of pacing / ATP ramp-induced VT (RV/CRT Pacing)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Selcuk Universitylead
- Ankara Universitycollaborator
- TC Erciyes Universitycollaborator
- Dokuz Eylul Universitycollaborator
Study Sites (1)
Selcuk University Genetic Department Faculty of Medicine
Konya, Turkey (Türkiye)
Biospecimen
DNA extraction will be done following non-invasive saliva sampling
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- OTHER
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Assistant Professor. Dr.
Study Record Dates
First Submitted
October 12, 2022
First Posted
October 17, 2022
Study Start
February 1, 2023
Primary Completion
June 1, 2024
Study Completion
March 1, 2025
Last Updated
October 17, 2022
Record last verified: 2022-10
Data Sharing
- IPD Sharing
- Will not share