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NCT Number: NCT04427163

Assesment of Multiomics Profiles in Health and Disease.

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

Recruiting

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Key information

Age range

18 year–68 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University Hospital Olomouc

Olomouc, Czechia

Location status: Recruiting

Location contact

Iva Holuskova, MD

CONTACT

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Blood sample analysis

Genetic

Nucleic acids sequencing, presence of proteins and metabolites.

health status

Other

Health status will be examined by a physician and subject will complete a health status questionnaire.

Race and ethnicity

Other

Subject will complete race and ethnicity questionnaire to make sure subjects are from the Czech population.

Primary outcomes

  1. Whole Genome (Exom) Sequencing of the Healthy Volunteers - establishment of the HEALTHY VOLUNTEER REFERENCE GENOME (min. 1000 individuals)

    Time frame: 72 months

    Establishment of the Healthy Volunteers Whole Genome (Exom) Reference Database typical for the population of the Czech Republic/Central Europe.

  2. Whole Genome (Exom) Sequencing of the patient groups with different diseases and their comparison to the HEALTHY VOLUNTEER REFERENCE GENOME

    Time frame: 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 outcomes

  1. Evaluation of the correlation with the disease phenotype

    Time frame: 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Marian Hajduch, MD, PhD.

CONTACT

[email protected]

+420585632083

Michaela Bendova, MSc.

CONTACT

[email protected]

+420585632050

Sponsors and collaborators

Lead sponsor

The Institute of Molecular and Translational Medicine, Czech Republic

Other

Registry information

Official study title

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

Acronym: ENIGMA

Important dates

Study start
2018
Primary completion
2028
Study completion
2029
First posted
Jun 11, 2020
Registry last updated
Feb 13, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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