Assesment of Multiomics Profiles in Health and Disease.

Genetic Predisposition to Disease Clinical Trial

— ENIGMA  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04427163
• Other study ID #: 302
• Status: Recruiting
• Start date: September 1, 2018
• Est. completion date: March 30, 2029

Study information

• Verified date: August 2023
• Source: The Institute of Molecular and Translational Medicine, Czech Republic
• Contact: Marian Hajduch, MD, PhD.
• Phone: +420 585 632 083
• Email: marian.hajduch[@]upol.cz
• Is FDA regulated: No
• Study type: Observational

Clinical 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1100
• Est. completion date: March 30, 2029
• Est. primary completion date: September 1, 2028
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 68 Years

Eligibility

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

Related Conditions & MeSH terms

• Genetic Predisposition to Disease

Intervention

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

Locations

Country	Name	City	State
Czechia	University Hospital Olomouc	Olomouc

Sponsors (1)

Lead Sponsor	Collaborator
The Institute of Molecular and Translational Medicine, Czech Republic

Country where clinical trial is conducted

Czechia, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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	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