A Clinical Study to Map the HLA Genomic Region in the Greek Population (GENESIS)

A Clinical Study to Map the HLA GENomic Region and Its potEntial aSsocIation With Selected diSeases in the Greek Population

The aim of GENESIS clinical study is to map the HLA genomic region in the Greek population and evaluate possible correlations with selected underlying diseases.

Study Overview

• Status: Recruiting
• Conditions: Gastrointestinal Diseases; Cardiovascular Diseases; Healthy; Neurologic Disorder; Respiratory Disease; Psychiatric Disorder; Chronic Renal Failure; Metabolic Disease; Haematologic Disease; Rheumatologic Disease

Detailed Description

The GENESIS study is a multicenter, prospective, non-interventional, clinical study with a target of 12,000 subjects and an anticipated total duration of 36 months. The aim of study GENESIS is to provide a pilot map of HLA genetic variation in the Greek population in order to be used in medical research and for possible clinical applications (evaluation of possible correlations with selected underlying diseases). During the study, each subject will conduct one visit to the participating cite, in which they will provide:

1. Demographic information [i.e. date of birth, gender, race, ancestry (including information about the subject's grandparents' birthplace), height, weight],
2. Other information about smoking/vaping, alcohol consumption, arterial blood pressure, diagnosed diseases (if any), current treatments (if any), and
3. Recent (up to 12 months prior to sample collection) results if/when are available from clinical lab tests such as blood count (Hct, Hb, RBC, WBC, PLT count), including a metabolic panel, liver enzymes and biochemical parameters (Glu, HbA1c, TC, TG, LDL-C, HDL-C, ALT, AST, ALP, γGT, bilirubin, LDH, insulin, C-peptide).

Upon completion of the data registry, two buccal swabs will be collected per subject and they will be stored at ALTP premises until their shipment to Galatea.Bio. All buccal swab samples will be subjected to genetic material (DNA) extraction. The DNA samples will be further proceeded for HLA genotyping analysis. A follow up analysis will be performed in selected DNA samples via full low-pass whole genome sequencing (LP-WGS), which aims to further investigate the association between the HLA region and autoimmune diseases.

Upon completion of the analysis, an individualized ancestry report will be securely made available to all study subjects which they can access, as and if they elect to.

• Study Type: Observational
• Enrollment (Estimated): 12000

Contacts and Locations

• Study Contact: Name: Efi Giannopoulou; Phone Number: +306974784009; Email: egiannopoulou@lifetechpark.com

Study Locations

• Greece
  • Alexandroupolis, Greece, 68100
    • Recruiting
    • Department of Infectious Diseases, 2nd Department of Internal Medicine, University General Hospital of Alexandroupolis
    • Contact: Papazoglou, Professor
  • Heraklion, Greece, 71110
    • Not yet recruiting
    • Department of Cardiology, University General Hospital of Heraklion
    • Contact: Μarketou, Professor
  • Heraklion, Greece, 71110
    • Not yet recruiting
    • Department of Rheumatology, University Hospital of Heraklion
    • Contact: Sidiropoulos, Professor
  • Ioannina, Greece, 45500
    • Recruiting
    • Department of Respiratory, University Hospital of Ioannina
    • Contact: Kostikas, Professor
  • Larissa, Greece, 41110
    • Not yet recruiting
    • Department of Haematology, University General Hospital of Larissa
    • Contact: Vasilopoulos, Professor
  • Attiki
    • Chaidari, Attiki, Greece, 12462
      • Not yet recruiting
      • 2nd Propaedeutic Department of Internal Medicine, Attikon University General Hospital
      • Contact: Lambadiari, Professor
  • Thessaloniki
    • Thessaloníki, Thessaloniki, Greece, 54636
      • Not yet recruiting
      • 2nd Department of Neurology, AHEPA University Hospital
      • Contact: Grigoriadis, Professor
  • Thrace
    • Alexandroupolis, Thrace, Greece, 68100
      • Recruiting
      • Department of Respiratory Medicine, University General Hospital of Alexandroupolis
      • Contact: Steiropoulos, Professor

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

The study will recruit and enroll eligible subjects possessing a Greek social security number, who are visiting hospitals/clinics and/or other private laboratory practices (incl. clinics and health care groups) as part of standard clinical practice.

Description

Inclusion Criteria:

The study will include adult subjects (age ≥ 18) that:

• possess a Greek social security number and are visiting hospitals/clinics, and/or other private laboratory institutions (incl. clinics and health care groups) as part of standard clinical practice in Greece,
• are willing and able to provide written informed consent to participate in the study according to the study protocol.

Exclusion Criteria:

• Subjects not able to provide written informed consent (e.g. ICU patients, mental illness patients, lack of legal capacity).

• Subjects who have had an allogeneic (non-self-donor):

  • bone marrow transplant
  • stem cell transplant
  • blood transfusion less than two weeks prior to buccal swab sample collection
  • liver transplant
• Subjects who participated in an interventional clinical trial in the past that according to the subject's physician opinion might have had an impact on their HLA genome.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Greek population; The enrolled subjects will be managed as a single group.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Allele frequency of HLA-alleles at the Greek population level	To assess the HLA allelic diversity of Greek population	36th month

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Prevalence of selected HLA-related diseases in the Greek population	Characterization of the allelic and haplotypic HLA frequency distribution in the Greek population and comparison with global HLA databases.	36th month
Relative Risk (Risk Ratio (RR) or Odds Ratio (OR)) of HLA markers on diseases of interest	Evaluation of the association between HLA alleles and/or haplotypes, and selected diseases	36th month

Collaborators and Investigators

• Sponsor: Athens LifeTech Park
• Collaborators: Galatea.Bio
• Investigators: Study Director: Efi Giannopoulou, Athens LifeTech Park

Publications and helpful links

General Publications

• Sanchez-Mazas A, Nunes JM, Middleton D, Sauter J, Buhler S, McCabe A, Hofmann J, Baier DM, Schmidt AH, Nicoloso G, Andreani M, Grubic Z, Tiercy JM, Fleischhauer K. Common and well-documented HLA alleles over all of Europe and within European sub-regions: A catalogue from the European Federation for Immunogenetics. HLA. 2017 Feb;89(2):104-113. doi: 10.1111/tan.12956.
• Dendrou CA, Petersen J, Rossjohn J, Fugger L. HLA variation and disease. Nat Rev Immunol. 2018 May;18(5):325-339. doi: 10.1038/nri.2017.143. Epub 2018 Jan 2.
• Zhou Y, Krebs K, Milani L, Lauschke VM. Global Frequencies of Clinically Important HLA Alleles and Their Implications For the Cost-Effectiveness of Preemptive Pharmacogenetic Testing. Clin Pharmacol Ther. 2021 Jan;109(1):160-174. doi: 10.1002/cpt.1944. Epub 2020 Jul 26.

Study record dates

Study Major Dates

• Study Start (Actual): December 12, 2023
• Primary Completion (Estimated): May 31, 2025
• Study Completion (Estimated): August 31, 2026

Study Registration Dates

• First Submitted: January 18, 2024
• First Submitted That Met QC Criteria: January 25, 2024
• First Posted (Estimated): January 26, 2024

Study Record Updates

• Last Update Posted (Estimated): January 26, 2024
• Last Update Submitted That Met QC Criteria: January 25, 2024
• Last Verified: January 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Behavioral Symptoms; Pathologic Processes; Kidney Diseases; Urologic Diseases; Disease Attributes; Renal Insufficiency; Musculoskeletal Diseases; Connective Tissue Diseases; Renal Insufficiency, Chronic; Chronic Disease; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Cardiovascular Diseases; Problem Behavior; Mental Disorders; Kidney Failure, Chronic; Nervous System Diseases; Hematologic Diseases; Gastrointestinal Diseases; Digestive System Diseases; Rheumatic Diseases; Collagen Diseases; Metabolic Diseases; Respiratory Tract Diseases
• Other Study ID Numbers: ALTP.2023.001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: No plan for sharing IPD at this stage

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No