[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100500658":3},{"organization":4,"outcomesModule":7,"designInfo":14,"detailedDescription":17,"studyPopulation":18,"armGroups":19,"interventions":25,"overallOfficials":31,"centralContacts":35,"locations":41,"responsibleParty":357,"collaborators":13,"id":359,"slug":360,"hasResults":361,"nctId":362,"briefTitle":363,"officialTitle":363,"acronym":364,"eligibilityCriteria":365,"healthyVolunteers":361,"sex":366,"minAge":367,"maxAge":13,"enrollmentInfo":368,"targetDuration":13,"studyType":371,"phases":13,"briefSummary":372,"conditions":373,"keywords":378,"overallStatus":44,"whyStopped":13,"lastUpdateSubmitDate":382,"lastUpdatePostDateStruct":383,"startDateStruct":386,"completionDateStruct":388,"leadSponsor":390,"locationsCount":391},{"fullName":5,"class":6},"Cyprus Institute of Neurology and Genetics","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":13},[9],{"measure":10,"description":11,"timeFrame":12},"Genetic modifiers in haemoglobinopathies through GWAS","Number of genetic variants (SNPs) associated with disease-specific phenotypes","5 years",null,{"allocation":13,"interventionModel":13,"interventionModelDescription":13,"primaryPurpose":13,"observationalModel":15,"timePerspective":16,"maskingInfo":13},"COHORT","PROSPECTIVE","Hemoglobinopathies, including sickle cell disease (SCD) and beta-thalassemia, are prevalent diseases with variable clinical manifestation and severity that are thought to be governed, in part, by genetic modifiers. Despite the identification and characterization of a few putative genetic modifiers by previous studies, these are as yet insufficient to guide treatment recommendations or risk-stratify patients reliably. Also, it is expected that many additional genetic variants exist that can modify disease and its severity. This large-scale genome-wide association study (GWAS) will utilize SNP chips to investigate the genetic profile of individuals with hemoglobinopathies, thereby addressing the challenges of previous studies related to small sample sizes and low statistical power, while promoting the participation of diverse populations worldwide. The study aims to i) discover new genetic modifiers of hemoglobinopathies, ii) validate previously reported genetic modifiers, iii) pool and analyze existing genomic data, iv) standardize phenotypic descriptions, v) develop a research resource of disease-specific data generated in INHERENT, including genomic, phenotypic, and functional data, and vi) develop risk scores that can be used for patient stratification.\n\nThe main endpoints include:\n\n1. Worldwide demography, including numbers of patients, main genotypes, and overall disease severity\u002Fburden in participating centres\n2. Genetic modifiers affecting clinical or laboratory phenotypes of hemoglobinopathies, including\n\n   1. overall survival in SCD and\u002For thalassemia,\n   2. stroke and\u002For decreased neurocognitive function in SCD and\u002For thalassemia,\n   3. renal impairment in SCD and\u002For thalassemia,\n   4. leg ulcers in SCD,\n   5. priapism in SCD,\n   6. mild or severe acute pain and\u002For chronic pain syndromes in SCD,\n   7. pulmonary hypertension in SCD and\u002For thalassemia,\n   8. hyperhemolysis in SCD and\u002For thalassemia,\n   9. fetal hemoglobin levels,\n   10. degree of ineffective erythropoiesis,\n   11. hepatic fibrosis\u002Fcirrhosis and\u002For cardiac siderosis,\n3. Genetic modifiers affecting response to treatment, including\n\n   1. response to hydroxyurea,\n   2. response to iron chelation treatment,\n   3. response to emerging therapeutic agents","Individuals diagnosed with an inherited hemoglobinopathy and are under regular follow-up in the participating centers",[20],{"label":21,"type":13,"description":22,"interventionNames":23},"Cohort","Individuals with hemoglobinopathies",[24],"Genetic: GWAS",[26],{"type":27,"name":28,"description":29,"armGroupLabels":30,"otherNames":13},"GENETIC","GWAS","The study will perform a GWAS experiments for all recruited subjects. The blood sample will be collected during routine clinical visits, only if DNA is not already available in existing biobanks. All individuals will provide consent for participation in the study.",[21],[32],{"name":33,"affiliation":5,"role":34},"Petros Kountouris, PhD","PRINCIPAL_INVESTIGATOR",[36],{"name":33,"role":37,"phone":38,"phoneExt":39,"email":40},"CONTACT","22392623","357","admin@inherentnetwork.org",[42,59,72,86,99,110,123,134,145,156,169,182,195,203,211,222,235,248,261,272,283,296,307,318,331,344],{"facility":43,"status":44,"city":45,"state":46,"zip":47,"country":48,"countryCode":49,"cosmosGeoPoint":50,"geoPoint":55,"contacts":56},"Boston Children's Hospital","RECRUITING","Boston","Massachusetts","02115","United States","US",{"type":51,"coordinates":52},"Point",[53,54],-71.05977,42.35843,{"lat":54,"lon":53},[57],{"name":58,"role":37,"phone":13,"phoneExt":13,"email":13},"Natasha Archer, MD",{"facility":60,"status":44,"city":61,"state":13,"zip":13,"country":62,"countryCode":63,"cosmosGeoPoint":64,"geoPoint":68,"contacts":69},"Lucrecia Paím 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PhD",{"facility":100,"status":74,"city":101,"state":13,"zip":13,"country":101,"countryCode":13,"cosmosGeoPoint":102,"geoPoint":106,"contacts":107},"Universiti Brunei Darussalam","Brunei",{"type":51,"coordinates":103},[104,105],114.94006,4.89035,{"lat":105,"lon":104},[108],{"name":109,"role":37,"phone":13,"phoneExt":13,"email":13},"Mas Rina Wati Abdul Hamid",{"facility":111,"status":44,"city":112,"state":13,"zip":13,"country":113,"countryCode":114,"cosmosGeoPoint":115,"geoPoint":119,"contacts":120},"Larnaca General Hospital","Larnaca","Cyprus","CY",{"type":51,"coordinates":116},[117,118],33.62794,34.9221,{"lat":118,"lon":117},[121],{"name":122,"role":37,"phone":13,"phoneExt":13,"email":13},"Maria Sitarou, MD",{"facility":124,"status":44,"city":125,"state":13,"zip":13,"country":113,"countryCode":114,"cosmosGeoPoint":126,"geoPoint":130,"contacts":131},"Limassol General 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MD",{"facility":157,"status":44,"city":158,"state":13,"zip":13,"country":159,"countryCode":160,"cosmosGeoPoint":161,"geoPoint":165,"contacts":166},"Centre Hospitalier Monkole","Kinshasa","Democratic Republic of the Congo","CD",{"type":51,"coordinates":162},[163,164],15.31357,-4.32758,{"lat":164,"lon":163},[167],{"name":168,"role":37,"phone":13,"phoneExt":13,"email":13},"Leon Tshilolo, MD",{"facility":170,"status":44,"city":171,"state":13,"zip":13,"country":172,"countryCode":173,"cosmosGeoPoint":174,"geoPoint":178,"contacts":179},"Rigshospitalet","Copenhagen","Denmark","DK",{"type":51,"coordinates":175},[176,177],12.56553,55.67594,{"lat":177,"lon":176},[180],{"name":181,"role":37,"phone":13,"phoneExt":13,"email":13},"Andreas Birkedal Glenthøj, MD",{"facility":183,"status":44,"city":184,"state":13,"zip":13,"country":185,"countryCode":186,"cosmosGeoPoint":187,"geoPoint":191,"contacts":192},"Hippokrateio Hospital of 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PhD",{"facility":212,"status":44,"city":213,"state":13,"zip":13,"country":185,"countryCode":186,"cosmosGeoPoint":214,"geoPoint":218,"contacts":219},"General Hospital of Larissa","Larissa",{"type":51,"coordinates":215},[216,217],22.42112,39.62847,{"lat":217,"lon":216},[220],{"name":221,"role":37,"phone":13,"phoneExt":13,"email":13},"Michael Diamantidis, MD",{"facility":223,"status":74,"city":224,"state":13,"zip":13,"country":225,"countryCode":226,"cosmosGeoPoint":227,"geoPoint":231,"contacts":232},"Emek Medical Centre","Afula","Israel","IL",{"type":51,"coordinates":228},[229,230],35.2892,32.60907,{"lat":230,"lon":229},[233],{"name":234,"role":37,"phone":13,"phoneExt":13,"email":13},"Ariel Koren, MD",{"facility":236,"status":74,"city":237,"state":13,"zip":13,"country":238,"countryCode":239,"cosmosGeoPoint":240,"geoPoint":244,"contacts":245},"University of Turin","Turin","Italy","IT",{"type":51,"coordinates":241},[242,243],7.68682,45.07049,{"lat":243,"lon":242},[246],{"name":247,"role":37,"phone":13,"phoneExt":13,"email":13},"Giorgia Mandrile, PhD",{"facility":249,"status":44,"city":250,"state":13,"zip":13,"country":251,"countryCode":252,"cosmosGeoPoint":253,"geoPoint":257,"contacts":258},"Ampang Hospital","Ampang","Malaysia","MY",{"type":51,"coordinates":254},[255,256],101.76667,3.15,{"lat":256,"lon":255},[259],{"name":260,"role":37,"phone":13,"phoneExt":13,"email":13},"Veena Selvaratnam, MD",{"facility":262,"status":44,"city":263,"state":13,"zip":13,"country":251,"countryCode":252,"cosmosGeoPoint":264,"geoPoint":268,"contacts":269},"Universiti Kebangsaan Malaysia","Bangi",{"type":51,"coordinates":265},[266,267],101.78333,2.9,{"lat":267,"lon":266},[270],{"name":271,"role":37,"phone":13,"phoneExt":13,"email":13},"Raja Zahratul Azma, 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University","Kaduna",{"type":51,"coordinates":300},[301,302],7.43879,10.52641,{"lat":302,"lon":301},[305],{"name":306,"role":37,"phone":13,"phoneExt":13,"email":13},"Livingstone Dogara, MD",{"facility":308,"status":44,"city":309,"state":13,"zip":13,"country":286,"countryCode":287,"cosmosGeoPoint":310,"geoPoint":314,"contacts":315},"Ahmadu Bello University","Zaria",{"type":51,"coordinates":311},[312,313],7.7227,11.11128,{"lat":313,"lon":312},[316],{"name":317,"role":37,"phone":13,"phoneExt":13,"email":13},"Aliyu Waziri, MD",{"facility":319,"status":74,"city":320,"state":13,"zip":13,"country":321,"countryCode":322,"cosmosGeoPoint":323,"geoPoint":327,"contacts":328},"University of Lahore","Lahore","Pakistan","PK",{"type":51,"coordinates":324},[325,326],74.35071,31.558,{"lat":326,"lon":325},[329],{"name":330,"role":37,"phone":13,"phoneExt":13,"email":13},"Ahmed Bilal, PhD",{"facility":332,"status":74,"city":333,"state":13,"zip":13,"country":334,"countryCode":335,"cosmosGeoPoint":336,"geoPoint":340,"contacts":341},"Centro Hospitalar e Universitário de Coimbra","Coimbra","Portugal","PT",{"type":51,"coordinates":337},[338,339],-8.41996,40.20686,{"lat":339,"lon":338},[342],{"name":343,"role":37,"phone":13,"phoneExt":13,"email":13},"Celeste Bento, PhD",{"facility":345,"status":74,"city":346,"state":13,"zip":13,"country":347,"countryCode":348,"cosmosGeoPoint":349,"geoPoint":353,"contacts":354},"Hospital Clínico San Carlos","Madrid","Spain","ES",{"type":51,"coordinates":350},[351,352],-3.70256,40.4165,{"lat":352,"lon":351},[355],{"name":356,"role":37,"phone":13,"phoneExt":13,"email":13},"Paloma Ropero, PhD",{"type":34,"investigatorFullName":33,"investigatorTitle":358,"investigatorAffiliation":5,"oldNameTitle":13,"oldOrganization":13},"Associate Scientist, Lead of the Biomedical and Translational Informatics Group, Molecular Genetics Thalassaemia Department","100500658","study-of-the-role-of-genetic-modifiers-in-hemoglobinopathies-100500658",false,"NCT05799118","Study of the Role of Genetic Modifiers in Hemoglobinopathies","INHERENT","Inclusion Criteria:\n\n* Clinical diagnosis of an inherited hemoglobinopathy, including sickle cell disease (SCD), β-thalassemia, and α-thalassemia; all genotypes will be considered.\n* Age ≥ 2 years old at the time of the collection of the phenotypic data.\n* There will be no limits on study participants in terms of gender, ethnicity, morbidities.\n\nExclusion Criteria:\n\n* Patients treated with stem cell transplantation or genetic therapy.\n* Age \\\u003C 2 years old at the time of the collection of the phenotypic data.\n* Patient or legal representative for minors unwilling or unable to give consent.","ALL","2 Years",{"count":369,"type":370},30000,"ESTIMATED","OBSERVATIONAL","This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).",[374,375,376,377],"Sickle Cell Disease","Thalassemia, Beta","Thalassemia Alpha","Hemoglobinopathies",[28,379,380,381],"thalassemia","sickle cell disease","genetic modifiers","2024-03-19",{"date":384,"type":385},"2024-03-20","ACTUAL",{"date":387,"type":385},"2022-10-01",{"date":389,"type":370},"2027-09-30",{"name":5,"class":6},26]