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

Healthy Clinical Trial

— GENESIS  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06227468
• Other study ID #: ALTP.2023.001
• Status: Recruiting
• Start date: December 12, 2023
• Est. completion date: August 31, 2026

Study information

• Verified date: January 2024
• Source: Athens LifeTech Park
• Contact: Efi Giannopoulou
• Phone: +306974784009
• Email: egiannopoulou[@]lifetechpark.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 12000
• Est. completion date: August 31, 2026
• Est. primary completion date: May 31, 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Cardiovascular Diseases
• Chronic Renal Failure
• Collagen Diseases
• Digestive System Diseases
• Gastrointestinal Diseases
• Haematologic Disease
• Healthy
• Hematologic Diseases
• Kidney Failure, Chronic
• Mental Disorders
• Metabolic Disease
• Metabolic Diseases
• Nervous System Diseases
• Neurologic Disorder
• Problem Behavior
• Psychiatric Disorder
• Respiratory Disease
• Respiratory Tract Diseases
• Rheumatic Diseases
• Rheumatologic Disease

Locations

Country	Name	City	State
Greece	Department of Infectious Diseases, 2nd Department of Internal Medicine, University General Hospital of Alexandroupolis	Alexandroupolis
Greece	Department of Respiratory Medicine, University General Hospital of Alexandroupolis	Alexandroupolis	Thrace
Greece	2nd Propaedeutic Department of Internal Medicine, Attikon University General Hospital	Chaidari	Attiki
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	2nd Department of Neurology, AHEPA University Hospital	Thessaloníki	Thessaloniki

Sponsors (2)

Lead Sponsor	Collaborator
Athens LifeTech Park	Galatea.Bio

Country where clinical trial is conducted

Greece, 

References & Publications (3)

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. — View Citation

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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Allele frequency of HLA-alleles at the Greek population level	To assess the HLA allelic diversity of Greek population	36th month
Secondary	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
Secondary	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