Clinical trial NCT04427163: Assesment of Multiomics Profiles in Health and Disease.
Official title: Assesment of Multiomics Profiles in Health and Disease - Corelation with the Disease Phenotype.
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Genetic Predisposition to Disease
Keywords: genomic profile
disease phenotype
proteomic profile
metabolomic profile
transcriptomic profile
Lead sponsor: The Institute of Molecular and Translational Medicine, Czech Republic
Sponsor class: OTHER
First posted: 2020-06-11
Enrollment: 1100
Sex: ALL
Minimum age (years): 18
Maximum age (years): 68
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Selection from the blood donnors from the blood transfusion department.

Brief summary: 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.

Eligibility criteria: 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

Primary outcomes:
measure: Whole Genome (Exom) Sequencing of the Healthy Volunteers - establishment of the HEALTHY VOLUNTEER REFERENCE GENOME (min. 1000 individuals)
timeFrame: 72 months
measure: Whole Genome (Exom) Sequencing of the patient groups with different diseases and their comparison to the HEALTHY VOLUNTEER REFERENCE GENOME
timeFrame: 72 months
Secondary outcomes:
measure: Evaluation of the correlation with the disease phenotype
timeFrame: 72 months
Other outcomes:
Locations:
city: Olomouc
country: Czechia
facility: University Hospital Olomouc
Study officials:
affiliation: IMTM, Palacky University in Olomouc, Faculty of Medicine and Dentistry
name: Marian Hajduch, MD, PhD.
role: STUDY_DIRECTOR
References: