Assesment of Multiomics Profiles in Health and Disease.

Recruiting

• Conditions: Genetic Predisposition to Disease
• Interventions: Genetic: Blood sample analysis; Other: Health status; Other: Race and ethnicity

• Registration Number: NCT04427163
• Lead Sponsor: The Institute of Molecular and Translational Medicine, Czech Republic

Brief Summary

This study will determine reference genomic, transcriptomic, proteomic and metabolomic profiles in Czech population and will evaluate its correlation with the disease phenotype.

Detailed Description

This study will determine reference genomic, transcriptomic, proteomic and metabolomic profiles in Czech population. Initially, there will be 1000 healthy volunteers, with the planned expansion to 10.000 participants (healthy volunteers and patients with different types of disease). Formation of the reference database of healthy volunteers and their parameters will allow a correct interpretation of the potential pathological findings in patients. It is very important to obtain healthy controls from the region of the Czech Republic, Central Europe respectively; since it is not possible to reliably compere ethnically and geographically diverse populations, which have generated in a different context and where the diseases manifest with other etiology ad phenotype. Although, in the limited measure, the similar molecular data exist in foreign databases, these are not compiled from the inhabitants of the Czech Republic, Central Europe not even from Slavic population. Study participants may volunteer for archiving of remaining biological materials for future studies.

Study Timeline

• Study Start: 2018-09-01
• Study First Submitted: 2020-04-16
• Study First Submitted QC: 2020-06-08
• Study First Posted: 2020-06-11
• Status Verified: 2024-09
• Last Update Submitted: 2024-09-30
• Last Update Posted: 2024-10-01
• Primary Completion: 2028-09-01
• Study Completion: 2029-03-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1100

Inclusion Criteria

• age 18 - 68 years
• (for the first 1100 subjects):
• healthy volunteers without genetically dependent disease and without such a disease in a family
• healthy volunteer without the preliminary evidence of civilizational diseases such as hypertension, diabetes, autoimmune and tumor diseases or acute infectional diseases; clinically manifesting cardiovascular or pulmonary disability.
• subject without permanent of long-term medication in the time of biological sampling.

Exclusion Criteria

• not complying with inclusion criteria

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Genomic, transcriptomic, proteomic, metabolomic profiles	Health status	Determination of genomic, transcriptomic, proteomic, metabolomic profiles in subjects.
Genomic, transcriptomic, proteomic, metabolomic profiles	Race and ethnicity	Determination of genomic, transcriptomic, proteomic, metabolomic profiles in subjects.
Genomic, transcriptomic, proteomic, metabolomic profiles	Blood sample analysis	Determination of genomic, transcriptomic, proteomic, metabolomic profiles in subjects.

Primary Outcome Measures

Name	Time	Method
Whole Genome (Exom) Sequencing of the Healthy Volunteers - establishment of the HEALTHY VOLUNTEER REFERENCE GENOME (min. 1000 individuals)	72 months	Establishment of the Healthy Volunteers Whole Genome (Exom) Reference Database typical for the population of the Czech Republic/Central Europe.
Whole Genome (Exom) Sequencing of the patient groups with different diseases and their comparison to the HEALTHY VOLUNTEER REFERENCE GENOME	72 months	Whole Genome (Exom) Sequencing of the patient populations presenting various diseases. Based on the comparison with the HEALTHY VOLUNTEER REFERENCE GENOME - determination of various genetic polymorphisms (single nucleotide polymorphisms, insertions, deletions, inversions, copy-number variations etc.) and giving these into correlation with disease phenotypes.

Secondary Outcome Measures

Name	Time	Method
Evaluation of the correlation with the disease phenotype	72 months	Based on the reference database of healthy volunteers in the Czech Republic a potential correlations will be evaluated among genomic, proteomic and metabolomic profiles of patients and the disease phenotypes.

Trial Locations

Locations (1)

University Hospital Olomouc; 🇨🇿 Olomouc, Czechia