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

Launched by ATHENS LIFETECH PARK · Jan 25, 2024

Nctid: NCT06227468

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Urogenital Diseases"}, {"id"=>"D000005261", "term"=>"Female Urogenital Diseases and Pregnancy Complications"}, {"id"=>"D000091642", "term"=>"Urogenital Diseases"}, {"id"=>"D000052801", "term"=>"Male Urogenital Diseases"}, {"id"=>"D000001526", "term"=>"Behavioral Symptoms"}, {"id"=>"D000051436", "term"=>"Renal Insufficiency, Chronic"}, {"id"=>"D000002908", "term"=>"Chronic Disease"}, {"id"=>"D000020969", "term"=>"Disease Attributes"}, {"id"=>"D000010335", "term"=>"Pathologic Processes"}, {"id"=>"D000003240", "term"=>"Connective Tissue Diseases"}, {"id"=>"D000009140", "term"=>"Musculoskeletal Diseases"}], "browseLeaves"=>[{"id"=>"M4815", "name"=>"Mental Disorders", "asFound"=>"Psychiatric Disorders", "relevance"=>"HIGH"}, {"id"=>"M85", "name"=>"Problem Behavior", "asFound"=>"Psychiatric Disorders", "relevance"=>"HIGH"}, {"id"=>"M10699", "name"=>"Kidney Failure, Chronic", "asFound"=>"Chronic Renal Failure", "relevance"=>"HIGH"}, {"id"=>"M26718", "name"=>"Renal Insufficiency", "relevance"=>"LOW"}, {"id"=>"M11639", "name"=>"Metabolic Diseases", "asFound"=>"Metabolic Diseases", "relevance"=>"HIGH"}, {"id"=>"M8883", "name"=>"Gastrointestinal Diseases", "asFound"=>"Gastrointestinal Diseases", "relevance"=>"HIGH"}, {"id"=>"M7255", "name"=>"Digestive System Diseases", "asFound"=>"Gastrointestinal Diseases", "relevance"=>"HIGH"}, {"id"=>"M14977", "name"=>"Respiratory Tract Diseases", "asFound"=>"Respiratory Disease", "relevance"=>"HIGH"}, {"id"=>"M9490", "name"=>"Hematologic Diseases", "asFound"=>"Haematologic Disease", "relevance"=>"HIGH"}, {"id"=>"M14957", "name"=>"Respiration Disorders", "relevance"=>"LOW"}, {"id"=>"M15045", "name"=>"Rheumatic Diseases", "asFound"=>"Rheumatologic Disease", "relevance"=>"HIGH"}, {"id"=>"M6323", "name"=>"Collagen Diseases", "asFound"=>"Rheumatologic Disease", "relevance"=>"HIGH"}, {"id"=>"M14473", "name"=>"Psychotic Disorders", "relevance"=>"LOW"}, {"id"=>"M10698", "name"=>"Kidney Diseases", "relevance"=>"LOW"}, {"id"=>"M17319", "name"=>"Urologic Diseases", "relevance"=>"LOW"}, {"id"=>"M2875", "name"=>"Urogenital Diseases", "relevance"=>"LOW"}, {"id"=>"M27093", "name"=>"Female Urogenital Diseases", "relevance"=>"LOW"}, {"id"=>"M14127", "name"=>"Pregnancy Complications", "relevance"=>"LOW"}, {"id"=>"M8399", "name"=>"Female Urogenital Diseases and Pregnancy Complications", "relevance"=>"LOW"}, {"id"=>"M27095", "name"=>"Male Urogenital Diseases", "relevance"=>"LOW"}, {"id"=>"M4818", "name"=>"Behavioral Symptoms", "relevance"=>"LOW"}, {"id"=>"M26717", "name"=>"Renal Insufficiency, Chronic", "relevance"=>"LOW"}, {"id"=>"M6147", "name"=>"Chronic Disease", "relevance"=>"LOW"}, {"id"=>"M22700", "name"=>"Disease Attributes", "relevance"=>"LOW"}, {"id"=>"M6464", "name"=>"Connective Tissue Diseases", "relevance"=>"LOW"}, {"id"=>"M12097", "name"=>"Musculoskeletal Diseases", "relevance"=>"LOW"}, {"id"=>"T1303", "name"=>"Chronic Graft Versus Host Disease", "relevance"=>"LOW"}], "browseBranches"=>[{"name"=>"Behaviors and Mental Disorders", "abbrev"=>"BXM"}, {"name"=>"All Conditions", "abbrev"=>"All"}, {"name"=>"Urinary Tract, Sexual Organs, and Pregnancy Conditions", "abbrev"=>"BXS"}, {"name"=>"Symptoms and General Pathology", "abbrev"=>"BC23"}, {"name"=>"Nutritional and Metabolic Diseases", "abbrev"=>"BC18"}, {"name"=>"Digestive System Diseases", "abbrev"=>"BC06"}, {"name"=>"Respiratory Tract (Lung and Bronchial) Diseases", "abbrev"=>"BC08"}, {"name"=>"Blood and Lymph Conditions", "abbrev"=>"BC15"}, {"name"=>"Musculoskeletal Diseases", "abbrev"=>"BC05"}, {"name"=>"Skin and Connective Tissue Diseases", "abbrev"=>"BC17"}, {"name"=>"Rare Diseases", "abbrev"=>"Rare"}]}}, "protocolSection"=>{"designModule"=>{"bioSpec"=>{"retention"=>"SAMPLES_WITH_DNA", "description"=>"Two buccal swabs per subject"}, "studyType"=>"OBSERVATIONAL", "designInfo"=>{"timePerspective"=>"PROSPECTIVE", "observationalModel"=>"OTHER"}, "enrollmentInfo"=>{"type"=>"ESTIMATED", "count"=>12000}, "patientRegistry"=>false}, "statusModule"=>{"overallStatus"=>"RECRUITING", "startDateStruct"=>{"date"=>"2023-12-12", "type"=>"ACTUAL"}, "expandedAccessInfo"=>{"hasExpandedAccess"=>false}, "statusVerifiedDate"=>"2024-01", "completionDateStruct"=>{"date"=>"2026-08-31", "type"=>"ESTIMATED"}, "lastUpdateSubmitDate"=>"2024-01-25", "studyFirstSubmitDate"=>"2024-01-18", "studyFirstSubmitQcDate"=>"2024-01-25", "lastUpdatePostDateStruct"=>{"date"=>"2024-01-26", "type"=>"ACTUAL"}, "studyFirstPostDateStruct"=>{"date"=>"2024-01-26", "type"=>"ACTUAL"}, "primaryCompletionDateStruct"=>{"date"=>"2025-05-31", "type"=>"ESTIMATED"}}, "outcomesModule"=>{"primaryOutcomes"=>[{"measure"=>"Allele frequency of HLA-alleles at the Greek population level", "timeFrame"=>"36th month", "description"=>"To assess the HLA allelic diversity of Greek population"}], "secondaryOutcomes"=>[{"measure"=>"Prevalence of selected HLA-related diseases in the Greek population", "timeFrame"=>"36th month", "description"=>"Characterization of the allelic and haplotypic HLA frequency distribution in the Greek population and comparison with global HLA databases."}, {"measure"=>"Relative Risk (Risk Ratio (RR) or Odds Ratio (OR)) of HLA markers on diseases of interest", "timeFrame"=>"36th month", "description"=>"Evaluation of the association between HLA alleles and/or haplotypes, and selected diseases"}]}, "oversightModule"=>{"oversightHasDmc"=>false, "isFdaRegulatedDrug"=>false, "isFdaRegulatedDevice"=>false}, "conditionsModule"=>{"conditions"=>["Healthy", "Respiratory Disease", "Chronic Renal Failure", "Cardiovascular Diseases", "Metabolic Disease", "Psychiatric Disorder", "Neurologic Disorder", "Gastrointestinal Diseases", "Haematologic Disease", "Rheumatologic Disease"]}, "referencesModule"=>{"references"=>[{"pmid"=>"28102034", "type"=>"BACKGROUND", "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."}, {"pmid"=>"29292391", "type"=>"BACKGROUND", "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."}, {"pmid"=>"32535895", "type"=>"BACKGROUND", "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."}]}, "descriptionModule"=>{"briefSummary"=>"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.", "detailedDescription"=>"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:\n\n1. Demographic information \\[i.e. date of birth, gender, race, ancestry (including information about the subject's grandparents' birthplace), height, weight\\],\n2. Other information about smoking/vaping, alcohol consumption, arterial blood pressure, diagnosed diseases (if any), current treatments (if any), and\n3. 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).\n\nUpon 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.\n\nUpon 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."}, "eligibilityModule"=>{"sex"=>"ALL", "stdAges"=>["ADULT", "OLDER_ADULT"], "minimumAge"=>"18 years", "samplingMethod"=>"PROBABILITY_SAMPLE", "studyPopulation"=>"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.", "healthyVolunteers"=>true, "eligibilityCriteria"=>"Inclusion Criteria:\n\nThe study will include adult subjects (age ≥ 18) that:\n\n* 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,\n* are willing and able to provide written informed consent to participate in the study according to the study protocol.\n\nExclusion Criteria:\n\n* Subjects not able to provide written informed consent (e.g. ICU patients, mental illness patients, lack of legal capacity).\n* Subjects who have had an allogeneic (non-self-donor):\n\n * bone marrow transplant\n * stem cell transplant\n * blood transfusion less than two weeks prior to buccal swab sample collection\n * liver transplant\n* 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."}, "identificationModule"=>{"nctId"=>"NCT06227468", "acronym"=>"GENESIS", "briefTitle"=>"A Clinical Study to Map the HLA Genomic Region in the Greek Population", "organization"=>{"class"=>"OTHER", "fullName"=>"Athens LifeTech Park"}, "officialTitle"=>"A Clinical Study to Map the HLA GENomic Region and Its potEntial aSsocIation With Selected diSeases in the Greek Population", "orgStudyIdInfo"=>{"id"=>"ALTP.2023.001"}}, "armsInterventionsModule"=>{"armGroups"=>[{"label"=>"Greek population", "description"=>"The enrolled subjects will be managed as a single group."}]}, "contactsLocationsModule"=>{"locations"=>[{"zip"=>"12462", "city"=>"Chaidari", "state"=>"Attiki", "status"=>"NOT_YET_RECRUITING", "country"=>"Greece", "contacts"=>[{"name"=>"Lambadiari, Professor", "role"=>"CONTACT"}], "facility"=>"2nd Propaedeutic Department of Internal Medicine, Attikon University General Hospital", "geoPoint"=>{"lat"=>38.01135, "lon"=>23.66597}}, {"zip"=>"54636", "city"=>"Thessaloníki", "state"=>"Thessaloniki", "status"=>"NOT_YET_RECRUITING", "country"=>"Greece", "contacts"=>[{"name"=>"Grigoriadis, Professor", "role"=>"CONTACT"}], "facility"=>"2nd Department of Neurology, AHEPA University Hospital", "geoPoint"=>{"lat"=>40.64361, "lon"=>22.93086}}, {"zip"=>"68100", "city"=>"Alexandroupolis", "state"=>"Thrace", "status"=>"RECRUITING", "country"=>"Greece", "contacts"=>[{"name"=>"Steiropoulos, Professor", "role"=>"CONTACT"}], "facility"=>"Department of Respiratory Medicine, University General Hospital of Alexandroupolis", "geoPoint"=>{"lat"=>40.84995, "lon"=>25.87644}}, {"zip"=>"68100", "city"=>"Alexandroupolis", "status"=>"RECRUITING", "country"=>"Greece", "contacts"=>[{"name"=>"Papazoglou, Professor", "role"=>"CONTACT"}], "facility"=>"Department of Infectious Diseases, 2nd Department of Internal Medicine, University General Hospital of Alexandroupolis", "geoPoint"=>{"lat"=>40.84995, "lon"=>25.87644}}, {"zip"=>"71110", "city"=>"Heraklion", "status"=>"NOT_YET_RECRUITING", "country"=>"Greece", "contacts"=>[{"name"=>"Μarketou, Professor", "role"=>"CONTACT"}], "facility"=>"Department of Cardiology, University General Hospital of Heraklion", "geoPoint"=>{"lat"=>35.32787, "lon"=>25.14341}}, {"zip"=>"71110", "city"=>"Heraklion", "status"=>"NOT_YET_RECRUITING", "country"=>"Greece", "contacts"=>[{"name"=>"Sidiropoulos, Professor", "role"=>"CONTACT"}], "facility"=>"Department of Rheumatology, University Hospital of Heraklion", "geoPoint"=>{"lat"=>35.32787, "lon"=>25.14341}}, {"zip"=>"45500", "city"=>"Ioannina", "status"=>"RECRUITING", "country"=>"Greece", "contacts"=>[{"name"=>"Kostikas, Professor", "role"=>"CONTACT"}], "facility"=>"Department of Respiratory, University Hospital of Ioannina", "geoPoint"=>{"lat"=>39.66486, "lon"=>20.85189}}, {"zip"=>"41110", "city"=>"Larissa", "status"=>"NOT_YET_RECRUITING", "country"=>"Greece", "contacts"=>[{"name"=>"Vasilopoulos, Professor", "role"=>"CONTACT"}], "facility"=>"Department of Haematology, University General Hospital of Larissa", "geoPoint"=>{"lat"=>39.63689, "lon"=>22.41761}}], "centralContacts"=>[{"name"=>"Efi Giannopoulou", "role"=>"CONTACT", "email"=>"egiannopoulou@lifetechpark.com", "phone"=>"+306974784009"}], "overallOfficials"=>[{"name"=>"Efi Giannopoulou", "role"=>"STUDY_DIRECTOR", "affiliation"=>"Athens LifeTech Park"}]}, "ipdSharingStatementModule"=>{"ipdSharing"=>"NO", "description"=>"No plan for sharing IPD at this stage"}, "sponsorCollaboratorsModule"=>{"leadSponsor"=>{"name"=>"Athens LifeTech Park", "class"=>"OTHER"}, "collaborators"=>[{"name"=>"Galatea.Bio", "class"=>"UNKNOWN"}], "responsibleParty"=>{"type"=>"SPONSOR"}}}}