Assesment of Multiomics Profiles in Health and Disease. (ENIGMA)

Assesment of Multiomics Profiles in Health and Disease - Corelation With the Disease Phenotype.

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

Study Overview

• Status: Recruiting
• Conditions: Genetic Predisposition to Disease
• Intervention / Treatment: Genetic: Blood sample analysis; Other: Health status; Other: Race and ethnicity

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 Type: Observational
• Enrollment (Estimated): 1100

Contacts and Locations

• Study Contact: Name: Marian Hajduch, MD, PhD.; Phone Number: +420585632083; Email: marian.hajduch@upol.cz
• Study Contact Backup: Name: Michaela Bendova, MSc.; Phone Number: +420585632050; Email: michaela.bendova@upol.cz

Study Locations

• Czechia
  • Olomouc, Czechia
    • Recruiting
    • University Hospital Olomouc
    • Contact: Iva Holuskova, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 68 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Selection from the blood donnors from the blood transfusion department.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Genomic, transcriptomic, proteomic, metabolomic profiles; Determination of genomic, transcriptomic, proteomic, metabolomic profiles in subjects.	Genetic: Blood sample analysis; Nucleic acids sequencing, presence of proteins and metabolites.; Other: Health status; Health status will be examined by a physician and subject will complete a health status questionnaire.; Other: Race and ethnicity; Subject will complete race and ethnicity questionnaire to make sure subjects are from the Czech population.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Whole Genome (Exom) Sequencing of the Healthy Volunteers - establishment of the HEALTHY VOLUNTEER REFERENCE GENOME (min. 1000 individuals)	Establishment of the Healthy Volunteers Whole Genome (Exom) Reference Database typical for the population of the Czech Republic/Central Europe.	72 months
Whole Genome (Exom) Sequencing of the patient groups with different diseases and their comparison to the HEALTHY VOLUNTEER REFERENCE GENOME	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.	72 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluation of the correlation with the disease phenotype	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.	72 months

Collaborators and Investigators

• Sponsor: The Institute of Molecular and Translational Medicine, Czech Republic
• Investigators: Study Director: Marian Hajduch, MD, PhD., IMTM, Palacky University in Olomouc, Faculty of Medicine and Dentistry

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2018
• Primary Completion (Estimated): September 1, 2028
• Study Completion (Estimated): March 30, 2029

Study Registration Dates

• First Submitted: April 16, 2020
• First Submitted That Met QC Criteria: June 8, 2020
• First Posted (Actual): June 11, 2020

Study Record Updates

• Last Update Posted (Actual): February 13, 2026
• Last Update Submitted That Met QC Criteria: February 11, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: genomic profile; disease phenotype; proteomic profile; metabolomic profile; transcriptomic profile
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Disease Susceptibility; Pathological Conditions, Signs and Symptoms; Genetic Predisposition to Disease; Public Health; Environment and Public Health; Population Characteristics; Demography; Epidemiologic Measurements; Health Status; alpha-methylacyl-CoA racemase; Ethnicity
• Other Study ID Numbers: 302

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No