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RecruitingNCT04427163ENIGMAUpdated Feb 13, 2026

Assesment of Multiomics Profiles in Health and Disease.

An observational study in Genetic Predisposition to Disease, sponsored by The Institute of Molecular and Translational Medicine, Czech Republic. Recruiting at 1 site in Czechia. Open to participants aged 18 Years to 68 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-02-13.

Sponsored by The Institute of Molecular and Translational Medicine, Czech Republic · Observational

From the registry’s dates

  • Started Sep 2018; still recruiting 8 years 1 month later.
Study type
Observational
Model
Other
Time perspective
Prospective
Enrollment
1,100
Ages
18 Years to 68 Years
Sex
All
01

Study summary

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

Read the 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.

02

Conditions studied

  • Genetic Predisposition to Disease

Keywords

  • genomic profile
  • disease phenotype
  • proteomic profile
  • metabolomic profile
  • transcriptomic profile
03

In context

Genetic Predisposition to Disease

235 studies on the registry are indexed under Genetic Predisposition to Disease; 94 are open to participants now.

This study's planned enrollment of 1,100 is above the median of 400 across 154 observational studies indexed under Genetic Predisposition to Disease.

Browse Genetic Predisposition to Disease studies →

Lead sponsor

The Institute of Molecular and Translational Medicine, Czech Republic is the lead sponsor of 18 studies on the registry; 10 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years to 68 Years
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

Selection from the blood donnors from the blood transfusion department.

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

Exclusion Criteria:

  • not complying with inclusion criteria
05

Study design

Observational model
Other
Time perspective
Prospective
Enrollment
1,100 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • Genomic, transcriptomic, proteomic, metabolomic profiles

    Determination of genomic, transcriptomic, proteomic, metabolomic profiles in subjects.

    Genetic: Blood sample analysis · Other: Health status · Other: Race and ethnicity

Interventions

  • GeneticBlood sample analysis

    Nucleic acids sequencing, presence of proteins and metabolites.

  • OtherHealth status

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

  • OtherRace and ethnicity

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

06

What researchers measure

Primary outcomes

  1. 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.

    Time frame: 72 months

  2. 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.

    Time frame: 72 months

Secondary outcomes

  1. 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.

    Time frame: 72 months

07

Study locations

1 of 1 sites recruiting
  • University Hospital Olomouc
    Olomouc, Czechia
    • Iva Holuskova, MD · Contact
    Recruiting
08

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Feb 13, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT04427163
Lead sponsor
The Institute of Molecular and Translational Medicine, Czech Republic
Responsible party
Sponsor
First posted
Jun 11, 2020
Start date
Sep 1, 2018
Primary completion
Sep 1, 2028 (estimated)
Completion
Mar 30, 2029 (estimated)
Last update
Feb 13, 2026

Study contacts

Marian Hajduch, MD, PhD.
Contact
marian.hajduch@upol.cz
+420585632083
Michaela Bendova, MSc.
Contact
michaela.bendova@upol.cz
+420585632050
Marian Hajduch, MD, PhD.
study director · IMTM, Palacky University in Olomouc, Faculty of Medicine and Dentistry

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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