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

NCT ID: NCT06227468

Last Updated: 2024-01-26

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 12000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-12-12
• Study Completion Date: 2026-08-31

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.

Conditions

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

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: PROSPECTIVE

Study Groups

Greek population

The enrolled subjects will be managed as a single group.

No interventions assigned to this group

Eligibility Criteria

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.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Galatea.Bio

UNKNOWN

Sponsor Role: collaborator

Athens LifeTech Park

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Efi Giannopoulou

Role: STUDY_DIRECTOR

Athens LifeTech Park

Locations

2nd Propaedeutic Department of Internal Medicine, Attikon University General Hospital

Chaïdári, Attica, Greece

Site Status: NOT_YET_RECRUITING

2nd Department of Neurology, AHEPA University Hospital

Thessaloniki, Thessaloniki, Greece

Site Status: NOT_YET_RECRUITING

Department of Respiratory Medicine, University General Hospital of Alexandroupolis

Alexandroupoli, Thrace, Greece

Site Status: RECRUITING

Department of Infectious Diseases, 2nd Department of Internal Medicine, University General Hospital of Alexandroupolis

Alexandroupoli, , Greece

Site Status: RECRUITING

Department of Cardiology, University General Hospital of Heraklion

Heraklion, , Greece

Site Status: NOT_YET_RECRUITING

Department of Rheumatology, University Hospital of Heraklion

Heraklion, , Greece

Site Status: NOT_YET_RECRUITING

Department of Respiratory, University Hospital of Ioannina

Ioannina, , Greece

Site Status: RECRUITING

Department of Haematology, University General Hospital of Larissa

Larissa, , Greece

Site Status: NOT_YET_RECRUITING

Countries

Greece

Central Contacts

Efi Giannopoulou

Role: CONTACT

egiannopoulou@lifetechpark.com

+306974784009

Facility Contacts

Lambadiari, Professor

Role: primary

Grigoriadis, Professor

Role: primary

Steiropoulos, Professor

Role: primary

Papazoglou, Professor

Role: primary

Μarketou, Professor

Role: primary

Sidiropoulos, Professor

Role: primary

Kostikas, Professor

Role: primary

Vasilopoulos, Professor

Role: primary

References

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.

Reference Type: BACKGROUND

PMID: 28102034 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 29292391 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 32535895 (View on PubMed)

Other Identifiers

ALTP.2023.001

Identifier Type: -

Identifier Source: org_study_id