Clinical trial NCT06227468: A Clinical Study to Map the HLA Genomic Region in the Greek Population
Official title: A Clinical Study to Map the HLA GENomic Region and Its potEntial aSsocIation With Selected diSeases in the Greek Population
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Healthy
Respiratory Disease
Chronic Renal Failure
Cardiovascular Diseases
Metabolic Disease
Psychiatric Disorder
Neurologic Disorder
Gastrointestinal Diseases
Haematologic Disease
Rheumatologic Disease
Lead sponsor: Athens LifeTech Park
Sponsor class: OTHER
Collaborators: name: Galatea.Bio
First posted: 2024-01-26
Enrollment: 12000
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: PROSPECTIVE
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.

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.

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.

Primary outcomes:
measure: Allele frequency of HLA-alleles at the Greek population level
timeFrame: 36th month
Secondary outcomes:
measure: Prevalence of selected HLA-related diseases in the Greek population
timeFrame: 36th month
measure: Relative Risk (Risk Ratio (RR) or Odds Ratio (OR)) of HLA markers on diseases of interest
timeFrame: 36th month
Other outcomes:
Locations:
city: Chaidari
country: Greece
facility: 2nd Propaedeutic Department of Internal Medicine, Attikon University General Hospital
state: Attiki
city: Thessaloníki
country: Greece
facility: 2nd Department of Neurology, AHEPA University Hospital
state: Thessaloniki
city: Alexandroupolis
country: Greece
facility: Department of Respiratory Medicine, University General Hospital of Alexandroupolis
state: Thrace
city: Alexandroupolis
country: Greece
facility: Department of Infectious Diseases, 2nd Department of Internal Medicine, University General Hospital of Alexandroupolis
city: Heraklion
country: Greece
facility: Department of Cardiology, University General Hospital of Heraklion
city: Heraklion
country: Greece
facility: Department of Rheumatology, University Hospital of Heraklion
city: Ioannina
country: Greece
facility: Department of Respiratory, University Hospital of Ioannina
city: Larissa
country: Greece
facility: Department of Haematology, University General Hospital of Larissa
Study officials:
affiliation: Athens LifeTech Park
name: Efi Giannopoulou
role: STUDY_DIRECTOR
References:
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.
citation: 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.
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.