Ignite Creation Date:
2025-12-25 @ 4:55 AM
Ignite Modification Date:
2025-12-26 @ 3:55 AM
Study NCT ID:
NCT05799118
Status:
RECRUITING
Last Update Posted:
2024-03-20
First Post:
2023-03-10
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Study of the Role of Genetic Modifiers in Hemoglobinopathies
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000755', 'term': 'Anemia, Sickle Cell'}, {'id': 'D017086', 'term': 'beta-Thalassemia'}, {'id': 'D017085', 'term': 'alpha-Thalassemia'}, {'id': 'D006453', 'term': 'Hemoglobinopathies'}, {'id': 'D013789', 'term': 'Thalassemia'}], 'ancestors': [{'id': 'D000745', 'term': 'Anemia, Hemolytic, Congenital'}, {'id': 'D000743', 'term': 'Anemia, Hemolytic'}, {'id': 'D000740', 'term': 'Anemia'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Whole blood samples'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 30000}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2022-10-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-03', 'completionDateStruct': {'date': '2027-09-30', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-03-19', 'studyFirstSubmitDate': '2023-03-10', 'studyFirstSubmitQcDate': '2023-03-22', 'lastUpdatePostDateStruct': {'date': '2024-03-20', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-04-05', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-09-30', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Genetic modifiers in haemoglobinopathies through GWAS', 'timeFrame': '5 years', 'description': 'Number of genetic variants (SNPs) associated with disease-specific phenotypes'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['GWAS', 'thalassemia', 'sickle cell disease', 'genetic modifiers'], 'conditions': ['Sickle Cell Disease', 'Thalassemia, Beta', 'Thalassemia Alpha', 'Hemoglobinopathies']}, 'referencesModule': {'references': [{'pmid': '34406671', 'type': 'BACKGROUND', 'citation': 'Kountouris P, Stephanou C, Archer N, Bonifazi F, Giannuzzi V, Kuo KHM, Maggio A, Makani J, Manu-Pereira MDM, Michailidou K, Nkya S, Nnodu OE, Trompeter S, Tshilolo L, Wonkam A, Zilfalil BA, Inusa BPD, Kleanthous M; on behalf of the International Hemoglobinopathy Research Network (INHERENT). The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies. Am J Hematol. 2021 Nov 1;96(11):E416-E420. doi: 10.1002/ajh.26323. Epub 2021 Aug 30. No abstract available.'}], 'seeAlsoLinks': [{'url': 'https://inherentnetwork.org', 'label': 'Official INHERENT website'}]}, 'descriptionModule': {'briefSummary': 'This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).', 'detailedDescription': '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/burden in participating centres\n2. Genetic modifiers affecting clinical or laboratory phenotypes of hemoglobinopathies, including\n\n 1. overall survival in SCD and/or thalassemia,\n 2. stroke and/or decreased neurocognitive function in SCD and/or thalassemia,\n 3. renal impairment in SCD and/or thalassemia,\n 4. leg ulcers in SCD,\n 5. priapism in SCD,\n 6. mild or severe acute pain and/or chronic pain syndromes in SCD,\n 7. pulmonary hypertension in SCD and/or thalassemia,\n 8. hyperhemolysis in SCD and/or thalassemia,\n 9. fetal hemoglobin levels,\n 10. degree of ineffective erythropoiesis,\n 11. hepatic fibrosis/cirrhosis and/or 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'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '2 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Individuals diagnosed with an inherited hemoglobinopathy and are under regular follow-up in the participating centers', 'healthyVolunteers': False, 'eligibilityCriteria': '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 \\< 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.'}, 'identificationModule': {'nctId': 'NCT05799118', 'acronym': 'INHERENT', 'briefTitle': 'Study of the Role of Genetic Modifiers in Hemoglobinopathies', 'organization': {'class': 'OTHER', 'fullName': 'Cyprus Institute of Neurology and Genetics'}, 'officialTitle': 'Study of the Role of Genetic Modifiers in Hemoglobinopathies', 'orgStudyIdInfo': {'id': '1'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Cohort', 'description': 'Individuals with hemoglobinopathies', 'interventionNames': ['Genetic: GWAS']}], 'interventions': [{'name': 'GWAS', 'type': 'GENETIC', 'description': '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.', 'armGroupLabels': ['Cohort']}]}, 'contactsLocationsModule': {'locations': [{'zip': '02115', 'city': 'Boston', 'state': 'Massachusetts', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Natasha Archer, MD', 'role': 'CONTACT'}], 'facility': "Boston Children's Hospital", 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'city': 'Luanda', 'status': 'RECRUITING', 'country': 'Angola', 'contacts': [{'name': 'Ligia Alves', 'role': 'CONTACT'}], 'facility': 'Lucrecia Paím Maternity', 'geoPoint': {'lat': -8.83682, 'lon': 13.23432}}, {'city': 'Buenos Aires', 'status': 'NOT_YET_RECRUITING', 'country': 'Argentina', 'contacts': [{'name': 'Karen Scheps, PhD', 'role': 'CONTACT'}], 'facility': 'University of Buenos Aires', 'geoPoint': {'lat': -34.61315, 'lon': -58.37723}}, {'city': 'Leuven', 'status': 'NOT_YET_RECRUITING', 'country': 'Belgium', 'contacts': [{'name': 'Veerle Labarque, MD, PhD', 'role': 'CONTACT'}], 'facility': 'University Hospitals Leuven', 'geoPoint': {'lat': 50.87959, 'lon': 4.70093}}, {'city': 'Brunei', 'status': 'NOT_YET_RECRUITING', 'country': 'Brunei', 'contacts': [{'name': 'Mas Rina Wati Abdul Hamid', 'role': 'CONTACT'}], 'facility': 'Universiti Brunei Darussalam', 'geoPoint': {'lat': 4.89035, 'lon': 114.94006}}, {'city': 'Larnaca', 'status': 'RECRUITING', 'country': 'Cyprus', 'contacts': [{'name': 'Maria Sitarou, MD', 'role': 'CONTACT'}], 'facility': 'Larnaca General Hospital', 'geoPoint': {'lat': 34.9221, 'lon': 33.62794}}, {'city': 'Limassol', 'status': 'RECRUITING', 'country': 'Cyprus', 'contacts': [{'name': 'Michael Hadjigavriel, MD', 'role': 'CONTACT'}], 'facility': 'Limassol General Hospital', 'geoPoint': {'lat': 34.68406, 'lon': 33.03794}}, {'city': 'Nicosia', 'status': 'RECRUITING', 'country': 'Cyprus', 'contacts': [{'name': 'Soteroula Christou, MD', 'role': 'CONTACT'}], 'facility': 'Archbishop Makarios III Hospital', 'geoPoint': {'lat': 35.17284, 'lon': 33.35397}}, {'city': 'Paphos', 'status': 'RECRUITING', 'country': 'Cyprus', 'contacts': [{'name': 'Thomas Dimitriou, MD', 'role': 'CONTACT'}], 'facility': 'Paphos General Hospital', 'geoPoint': {'lat': 34.77679, 'lon': 32.42451}}, {'city': 'Kinshasa', 'status': 'RECRUITING', 'country': 'Democratic Republic of the Congo', 'contacts': [{'name': 'Leon Tshilolo, MD', 'role': 'CONTACT'}], 'facility': 'Centre Hospitalier Monkole', 'geoPoint': {'lat': -4.32758, 'lon': 15.31357}}, {'city': 'Copenhagen', 'status': 'RECRUITING', 'country': 'Denmark', 'contacts': [{'name': 'Andreas Birkedal Glenthøj, MD', 'role': 'CONTACT'}], 'facility': 'Rigshospitalet', 'geoPoint': {'lat': 55.67594, 'lon': 12.56553}}, {'city': 'Athens', 'status': 'RECRUITING', 'country': 'Greece', 'contacts': [{'name': 'Sophia Delicou, MD', 'role': 'CONTACT'}], 'facility': 'Hippokrateio Hospital of Athens', 'geoPoint': {'lat': 37.98376, 'lon': 23.72784}}, {'city': 'Athens', 'status': 'RECRUITING', 'country': 'Greece', 'contacts': [{'name': 'Maria Dimopoulou, MD', 'role': 'CONTACT'}], 'facility': 'Laiko General Hospital', 'geoPoint': {'lat': 37.98376, 'lon': 23.72784}}, {'city': 'Athens', 'status': 'NOT_YET_RECRUITING', 'country': 'Greece', 'contacts': [{'name': 'Joanne Traeger-Synodinos, PhD', 'role': 'CONTACT'}], 'facility': 'National and Kapodistrian University of Athens', 'geoPoint': {'lat': 37.98376, 'lon': 23.72784}}, {'city': 'Larissa', 'status': 'RECRUITING', 'country': 'Greece', 'contacts': [{'name': 'Michael Diamantidis, MD', 'role': 'CONTACT'}], 'facility': 'General Hospital of Larissa', 'geoPoint': {'lat': 39.62847, 'lon': 22.42112}}, {'city': 'Afula', 'status': 'NOT_YET_RECRUITING', 'country': 'Israel', 'contacts': [{'name': 'Ariel Koren, MD', 'role': 'CONTACT'}], 'facility': 'Emek Medical Centre', 'geoPoint': {'lat': 32.60907, 'lon': 35.2892}}, {'city': 'Turin', 'status': 'NOT_YET_RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Giorgia Mandrile, PhD', 'role': 'CONTACT'}], 'facility': 'University of Turin', 'geoPoint': {'lat': 45.07049, 'lon': 7.68682}}, {'city': 'Ampang', 'status': 'RECRUITING', 'country': 'Malaysia', 'contacts': [{'name': 'Veena Selvaratnam, MD', 'role': 'CONTACT'}], 'facility': 'Ampang Hospital', 'geoPoint': {'lat': 3.15, 'lon': 101.76667}}, {'city': 'Bangi', 'status': 'RECRUITING', 'country': 'Malaysia', 'contacts': [{'name': 'Raja Zahratul Azma, MD', 'role': 'CONTACT'}], 'facility': 'Universiti Kebangsaan Malaysia', 'geoPoint': {'lat': 2.9, 'lon': 101.78333}}, {'city': 'Kota Bharu', 'status': 'RECRUITING', 'country': 'Malaysia', 'contacts': [{'name': 'Bin Alwi Zilfalil, MD, PhD', 'role': 'CONTACT'}], 'facility': 'Universiti Sains Malaysia', 'geoPoint': {'lat': 6.12361, 'lon': 102.24333}}, {'city': 'Abuja', 'status': 'RECRUITING', 'country': 'Nigeria', 'contacts': [{'name': 'Obiageli E Nnodu, MD', 'role': 'CONTACT'}], 'facility': 'University of Abuja', 'geoPoint': {'lat': 9.05785, 'lon': 7.49508}}, {'city': 'Kaduna', 'status': 'RECRUITING', 'country': 'Nigeria', 'contacts': [{'name': 'Livingstone Dogara, MD', 'role': 'CONTACT'}], 'facility': 'Kaduna State University', 'geoPoint': {'lat': 10.52641, 'lon': 7.43879}}, {'city': 'Zaria', 'status': 'RECRUITING', 'country': 'Nigeria', 'contacts': [{'name': 'Aliyu Waziri, MD', 'role': 'CONTACT'}], 'facility': 'Ahmadu Bello University', 'geoPoint': {'lat': 11.11128, 'lon': 7.7227}}, {'city': 'Lahore', 'status': 'NOT_YET_RECRUITING', 'country': 'Pakistan', 'contacts': [{'name': 'Ahmed Bilal, PhD', 'role': 'CONTACT'}], 'facility': 'University of Lahore', 'geoPoint': {'lat': 31.558, 'lon': 74.35071}}, {'city': 'Coimbra', 'status': 'NOT_YET_RECRUITING', 'country': 'Portugal', 'contacts': [{'name': 'Celeste Bento, PhD', 'role': 'CONTACT'}], 'facility': 'Centro Hospitalar e Universitário de Coimbra', 'geoPoint': {'lat': 40.20686, 'lon': -8.41996}}, {'city': 'Madrid', 'status': 'NOT_YET_RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Paloma Ropero, PhD', 'role': 'CONTACT'}], 'facility': 'Hospital Clínico San Carlos', 'geoPoint': {'lat': 40.4165, 'lon': -3.70256}}], 'centralContacts': [{'name': 'Petros Kountouris, PhD', 'role': 'CONTACT', 'email': 'admin@inherentnetwork.org', 'phone': '22392623', 'phoneExt': '357'}], 'overallOfficials': [{'name': 'Petros Kountouris, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Cyprus Institute of Neurology and Genetics'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Cyprus Institute of Neurology and Genetics', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Associate Scientist, Lead of the Biomedical and Translational Informatics Group, Molecular Genetics Thalassaemia Department', 'investigatorFullName': 'Petros Kountouris, PhD', 'investigatorAffiliation': 'Cyprus Institute of Neurology and Genetics'}}}}