Genetic Predisposition to DiseaseENIGMANCT04427163
Assesment of Multiomics Profiles in Health and Disease.
An observational study of Genetic Predisposition to Disease, run by The Institute of Molecular and Translational Medicine, Czech Republic at 1 site in Czechia.
Trial 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 more about this study
- Who is it for?
- Ages 18 to 68 yearsHealthy volunteers can take part
- Conditions the study is for
- Genetic Predisposition to Disease
- What is being tested?
- Blood sample analysis, Health status and Race and ethnicity
- How many people
- 1,100 participants
- Where
- 1 siteCzechia
- Study dates
- 1 Sep 2018to 30 Mar 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 68 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Selection from the blood donnors from the blood transfusion department.
Who may be able to join
- 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.
Who cannot join
- not complying with inclusion criteria
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Czechia1 site, 1 recruiting
- Recruiting
University Hospital Olomouc
Olomouc
Iva Holuskova, MD
About this study
Official title: 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.
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.
- Conditions
- Genetic Predisposition to Disease
- Being tested
- Blood sample analysis, Health status, Race and ethnicity
- Keywords
- genomic profile, disease phenotype, proteomic profile, metabolomic profile, transcriptomic profile
- Medical subject headings
- Genetic Predisposition to Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sample analysisGenetic
Nucleic acids sequencing, presence of proteins and metabolites.
Health statusOther
Health status will be examined by a physician and subject will complete a health status questionnaire.
Race and ethnicityOther
Subject will complete race and ethnicity questionnaire to make sure subjects are from the Czech population.
| Study group | Role | What they receive |
|---|---|---|
| Genomic, transcriptomic, proteomic, metabolomic profiles | Determination of genomic, transcriptomic, proteomic, metabolomic profiles in subjects. Receives: Genetic: Blood sample analysis; Other: Health status; Other: Race and ethnicity |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 72 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jun 2020
- Study start1 Sep 2018
- Primary completion1 Sep 2028 (estimated)
- Study completion30 Mar 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic Predisposition to DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 1,100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Institute of Molecular and Translational Medicine, Czech Republic
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Marian Hajduch, MD, PhD., Study director, IMTM, Palacky University in Olomouc, Faculty of Medicine and Dentistry
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04427163
- Sponsor's protocol ID
- 302
- Acronym
- ENIGMA
- Status last verified
- Feb 2026
- First submitted
- 16 Apr 2020
- Last updated
- 13 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assesment of Multiomics Profiles in Health and Disease - Corelation With the Disease Phenotype.
- ClinicalTrials.gov ID
- NCT04427163
- Acronym / sponsor ID
- ENIGMA / 302
- Conditions
- Genetic Predisposition to Disease
- Keywords
- genomic profile, disease phenotype, proteomic profile, metabolomic profile, transcriptomic profile
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,100 participants (estimated)
- Lead sponsor
- The Institute of Molecular and Translational Medicine, Czech RepublicUniversity, hospital or other
- Study start
- 1 Sep 2018 (actual)
- Primary completion
- 1 Sep 2028 (estimated)
- Study completion
- 30 Mar 2029 (estimated)
- First posted
- 11 Jun 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genomic, transcriptomic, proteomic, metabolomic profiles | – | Genetic: Blood sample analysis, Other: Health status, Other: Race and ethnicityDetermination of genomic, transcriptomic, proteomic, metabolomic profiles in subjects. |
Who may qualify
- Ages
- 18 to 68 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Selection from the blood donnors from the blood transfusion department.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (1 listed)
- not complying with inclusion criteria
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sample analysisNucleic acids sequencing, presence of proteins and metabolites. | Genetic | Genomic, transcriptomic, proteomic, metabolomic profiles |
| Health statusHealth status will be examined by a physician and subject will complete a health status questionnaire. | Other | Genomic, transcriptomic, proteomic, metabolomic profiles |
| Race and ethnicitySubject will complete race and ethnicity questionnaire to make sure subjects are from the Czech population. | Other | Genomic, transcriptomic, proteomic, metabolomic profiles |
Primary outcome
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.
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.
1 secondary outcome
Evaluation of the correlation with the disease phenotype
Time frame: 72 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Feb 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Marian Hajduch, MD, PhD. study director
IMTM, Palacky University in Olomouc, Faculty of Medicine and Dentistry
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Predisposition to Disease, run by The Institute of Molecular and Translational Medicine, Czech Republic at 1 site in Czechia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Czechia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Marian Hajduch, MD, PhD. (+420585632083, marian.hajduch@upol.cz), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Whole Genome (Exom) Sequencing of the Healthy Volunteers - establishment of the HEALTHY VOLUNTEER REFERENCE GENOME (min. 1000 individuals) (time frame: 72 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Feb 2026; AzTrials last refreshed its copy on 8 Nov 2026.