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

Recruiting

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

• Registration Number: NCT06227468
• Lead Sponsor: Athens LifeTech Park

Brief Summary

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.

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 Timeline

• Study Start: 2023-12-12
• Status Verified: 2024-01
• Study First Submitted: 2024-01-18
• Study First Submitted QC: 2024-01-25
• Last Update Submitted: 2024-01-25
• Study First Posted: 2024-01-26
• Last Update Posted: 2024-01-26
• Primary Completion: 2025-05-31
• Study Completion: 2026-08-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 12000

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Allele frequency of HLA-alleles at the Greek population level	36th month	To assess the HLA allelic diversity of Greek population

Secondary Outcome Measures

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

Trial Locations

Locations (8)

2nd Propaedeutic Department of Internal Medicine, Attikon University General Hospital; 🇬🇷 Chaidari, Attiki, Greece

2nd Department of Neurology, AHEPA University Hospital; 🇬🇷 Thessaloníki, Thessaloniki, Greece

Department of Respiratory Medicine, University General Hospital of Alexandroupolis; 🇬🇷 Alexandroupolis, Thrace, Greece

Department of Infectious Diseases, 2nd Department of Internal Medicine, University General Hospital of Alexandroupolis; 🇬🇷 Alexandroupolis, Greece

Department of Cardiology, University General Hospital of Heraklion; 🇬🇷 Heraklion, Greece

Department of Rheumatology, University Hospital of Heraklion; 🇬🇷 Heraklion, Greece

Department of Respiratory, University Hospital of Ioannina; 🇬🇷 Ioannina, Greece

Department of Haematology, University General Hospital of Larissa; 🇬🇷 Larissa, Greece