<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT04427163</url>
  </required_header>
  <id_info>
    <org_study_id>302</org_study_id>
    <nct_id>NCT04427163</nct_id>
  </id_info>
  <brief_title>Assesment of Multiomics Profiles in Health and Disease.</brief_title>
  <acronym>ENIGMA</acronym>
  <official_title>Assesment of Multiomics Profiles in Health and Disease - Corelation With the Disease Phenotype.</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>The Institute of Molecular and Translational Medicine, Czech Republic</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>The Institute of Molecular and Translational Medicine, Czech Republic</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      This study will determine reference genomic, transcriptomic, proteomic and metabolomic&#xD;
      profiles in Czech population and will evaluate its correlation with the disease phenotype.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This study will determine reference genomic, transcriptomic, proteomic and metabolomic&#xD;
      profiles in Czech population. Initially, there will be 1000 healthy volunteers, with the&#xD;
      planned expansion to 10.000 participants (healthy volunteers and patients with different&#xD;
      types of disease). Formation of the reference database of healthy volunteers and their&#xD;
      parameters will allow a correct interpretation of the potential pathological findings in&#xD;
      patients. It is very important to obtain healthy controls from the region of the Czech&#xD;
      Republic, Central Europe respectively; since it is not possible to reliably compere&#xD;
      ethnically and geographically diverse populations, which have generated in a different&#xD;
      context and where the diseases manifest with other etiology ad phenotype. Although, in the&#xD;
      limited measure, the similar molecular data exist in foreign databases, these are not&#xD;
      compiled from the inhabitants of the Czech Republic, Central Europe not even from Slavic&#xD;
      population. Study participants may volunteer for archiving of remaining biological materials&#xD;
      for future studies.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">September 1, 2018</start_date>
  <completion_date type="Anticipated">March 30, 2029</completion_date>
  <primary_completion_date type="Anticipated">September 1, 2028</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Other</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Whole Genome (Exom) Sequencing of the Healthy Volunteers - establishment of the HEALTHY VOLUNTEER REFERENCE GENOME (min. 1000 individuals)</measure>
    <time_frame>72 months</time_frame>
    <description>Establishment of the Healthy Volunteers Whole Genome (Exom) Reference Database typical for the population of the Czech Republic/Central Europe.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Whole Genome (Exom) Sequencing of the patient groups with different diseases and their comparison to the HEALTHY VOLUNTEER REFERENCE GENOME</measure>
    <time_frame>72 months</time_frame>
    <description>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.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Evaluation of the correlation with the disease phenotype</measure>
    <time_frame>72 months</time_frame>
    <description>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.</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">1100</enrollment>
  <condition>Genetic Predisposition to Disease</condition>
  <arm_group>
    <arm_group_label>Genomic, transcriptomic, proteomic, metabolomic profiles</arm_group_label>
    <description>Determination of genomic, transcriptomic, proteomic, metabolomic profiles in subjects.</description>
  </arm_group>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>Blood sample analysis</intervention_name>
    <description>Nucleic acids sequencing, presence of proteins and metabolites.</description>
    <arm_group_label>Genomic, transcriptomic, proteomic, metabolomic profiles</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Health status</intervention_name>
    <description>Health status will be examined by a physician and subject will complete a health status questionnaire.</description>
    <arm_group_label>Genomic, transcriptomic, proteomic, metabolomic profiles</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Race and ethnicity</intervention_name>
    <description>Subject will complete race and ethnicity questionnaire to make sure subjects are from the Czech population.</description>
    <arm_group_label>Genomic, transcriptomic, proteomic, metabolomic profiles</arm_group_label>
  </intervention>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Blood sample&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Selection from the blood donnors from the blood transfusion department.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  age 18 - 68 years&#xD;
&#xD;
          -  (for the first 1100 subjects):&#xD;
&#xD;
          -  healthy volunteers without genetically dependent disease and without such a disease in&#xD;
             a family&#xD;
&#xD;
          -  healthy volunteer without the preliminary evidence of civilizational diseases such as&#xD;
             hypertension, diabetes, autoimmune and tumor diseases or acute infectional diseases;&#xD;
             clinically manifesting cardiovascular or pulmonary disability.&#xD;
&#xD;
          -  subject without permanent of long-term medication in the time of biological sampling.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  not complying with inclusion criteria&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>68 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Marian Hajduch, MD, PhD.</last_name>
    <role>Study Director</role>
    <affiliation>IMTM, Palacky University in Olomouc, Faculty of Medicine and Dentistry</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Marian Hajduch, MD, PhD.</last_name>
    <phone>+420 585 632 083</phone>
    <email>marian.hajduch@upol.cz</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Michaela Bendova, MSc.</last_name>
    <phone>+420 585 632 050</phone>
    <email>michaela.bendova@upol.cz</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>University Hospital Olomouc</name>
      <address>
        <city>Olomouc</city>
        <country>Czechia</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Iva Holuskova, MD</last_name>
    </contact>
  </location>
  <location_countries>
    <country>Czechia</country>
  </location_countries>
  <verification_date>August 2023</verification_date>
  <study_first_submitted>April 16, 2020</study_first_submitted>
  <study_first_submitted_qc>June 8, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">June 11, 2020</study_first_posted>
  <last_update_submitted>August 21, 2023</last_update_submitted>
  <last_update_submitted_qc>August 21, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">August 22, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>genomic profile</keyword>
  <keyword>disease phenotype</keyword>
  <keyword>proteomic profile</keyword>
  <keyword>metabolomic profile</keyword>
  <keyword>transcriptomic profile</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Genetic Predisposition to Disease</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT04427163
org study id: 302
nct id: NCT04427163
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
This study will determine reference genomic, transcriptomic, proteomic and metabolomic
      profiles in Czech population and will evaluate its correlation with the disease phenotype.
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.
observational model: Other
time perspective: Prospective
measure: Whole Genome (Exom) Sequencing of the Healthy Volunteers - establishment of the HEALTHY VOLUNTEER REFERENCE GENOME (min. 1000 individuals)
time frame: 72 months
description: Establishment of the Healthy Volunteers Whole Genome (Exom) Reference Database typical for the population of the Czech Republic/Central Europe.
measure: Whole Genome (Exom) Sequencing of the patient groups with different diseases and their comparison to the HEALTHY VOLUNTEER REFERENCE GENOME
time frame: 72 months
description: 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.
measure: Evaluation of the correlation with the disease phenotype
time frame: 72 months
description: 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.
arm group label: Genomic, transcriptomic, proteomic, metabolomic profiles
description: Determination of genomic, transcriptomic, proteomic, metabolomic profiles in subjects.
intervention type: Genetic
intervention name: Blood sample analysis
description: Nucleic acids sequencing, presence of proteins and metabolites.
arm group label: Genomic, transcriptomic, proteomic, metabolomic profiles
intervention type: Other
intervention name: Health status
description: Health status will be examined by a physician and subject will complete a health status questionnaire.
arm group label: Genomic, transcriptomic, proteomic, metabolomic profiles
intervention type: Other
intervention name: Race and ethnicity
description: Subject will complete race and ethnicity questionnaire to make sure subjects are from the Czech population.
arm group label: Genomic, transcriptomic, proteomic, metabolomic profiles
Blood sample
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: 68 Years
healthy volunteers: Accepts Healthy Volunteers
last name: Marian Hajduch, MD, PhD.
role: Study Director
affiliation: IMTM, Palacky University in Olomouc, Faculty of Medicine and Dentistry
last name: Marian Hajduch, MD, PhD.
phone: +420 585 632 083
email: marian.hajduch@upol.cz
last name: Michaela Bendova, MSc.
phone: +420 585 632 050
email: michaela.bendova@upol.cz
facility: 
status: Recruiting
contact: 
country: Czechia
responsible party type: Sponsor
mesh term: Genetic Predisposition to Disease
sharing ipd: No