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| ID | Type | Description | Link |
|---|---|---|---|
| DN2022/400-MN2022/17 | Other Identifier | REPUBLIC OF TURKEY DEANARY OF SELCUK UNIVERSITY FACULTY OF MEDICINE |
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| Name | Class |
|---|---|
| Ankara University | OTHER |
| TC Erciyes University | OTHER |
| Dokuz Eylul University | OTHER |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Experimental group | Patients with ICD who received at least one electric shock in 6 months after ICD implantation |
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| Control Group | Patients with ICD who didnot received any electric shock in 6 months after ICD implantation |
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| Healthy Group | Healthy Volunteers This group will be used for related bioinformatic analysis (DATA analysis stage) but not in statistical analysis |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Non-Invasive saliva sampling | Other | There are two types of intervention in this ambidirectional study.
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| offering a comprehensive cardiogenetic kit | a kit that is based on the Illumina bead chip Infinium Microarray technology and can be used for research, clinical screening and diagnosis | 2025MARCH |
| Measure | Description | Time Frame |
|---|---|---|
| comprehensive local demographic statistics | since a large-scale study is desired, valuable domestic demographic statistical data can be achieved | 2024DEC |
Inclusion Criteria:
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| EBRU M Ozdemir, MD. | Contact | ++905063510721 | ebru.ozdemir@selcuk.edu.tr | |
| Ali Torabi, MD.,Ph.D. | Contact | ++905523042215 | ali.torabi@selcuk.edu.tr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Selcuk University Genetic Department Faculty of Medicine | Konya | Turkey (Türkiye) |
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| ID | Term |
|---|---|
| D001145 | Arrhythmias, Cardiac |
| D016757 | Death, Sudden, Cardiac |
| ID | Term |
|---|---|
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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DNA extraction will be done following non-invasive saliva sampling
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| D006323 | Heart Arrest |
| D003645 | Death, Sudden |
| D003643 | Death |