Genome-Wide Association Study With the Aim of Implantable Cardioverter Defibrillator Implantation Genophenotypic Risk Stratification

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.

Conditions

• ICD
• Arrythmia
• Sudden Cardiac Death

Interventions

OTHER

Non-Invasive saliva sampling

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.

Sponsors & Collaborators

• Ankara University

  collaborator OTHER

• TC Erciyes University

  collaborator OTHER

• Dokuz Eylul University

  collaborator OTHER

• Selcuk University Cardiology Department of Medicine Faculty

  collaborator UNKNOWN

• Selcuk University

  lead OTHER

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2023-02-28

Primary Completion

2024-06-30

Completion

2025-03-31

FDA Device

Yes

Countries

• Turkey (Türkiye)

Study Locations