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

Athens LifeTech Park

Status: Enrolling

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

Study type: Observational

Funder types: Other

Identifiers

NCT06227468

ALTP.2023.001

Details and patient eligibility

About

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.

Full 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.

Enrollment: 12,000 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

12,000 participants in 1 patient group

Greek population

Description:

The enrolled subjects will be managed as a single group.