A Clinical Study to Map the HLA GENomic Region and Its potEntial aSsocIation With Selected diSeases in the Greek Population
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 12,000
- 试验地点
- 8
- 主要终点
- Allele frequency of HLA-alleles at the Greek population level
研究概览
简要总结
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.
详细描述
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:
- Demographic information [i.e. date of birth, gender, race, ancestry (including information about the subject's grandparents' birthplace), height, weight],
- Other information about smoking/vaping, alcohol consumption, arterial blood pressure, diagnosed diseases (if any), current treatments (if any), and
- 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.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
Allele frequency of HLA-alleles at the Greek population level
时间窗: 36th month
To assess the HLA allelic diversity of Greek population
次要结局
- Relative Risk (Risk Ratio (RR) or Odds Ratio (OR)) of HLA markers on diseases of interest(36th month)
- Prevalence of selected HLA-related diseases in the Greek population(36th month)