Ignite Creation Date:
2025-12-25 @ 3:55 AM
Ignite Modification Date:
2025-12-26 @ 2:46 AM
Study NCT ID:
NCT06213402
Status:
RECRUITING
Last Update Posted:
2024-01-19
First Post:
2023-12-04
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000755', 'term': 'Anemia, Sickle Cell'}, {'id': 'D013789', 'term': 'Thalassemia'}, {'id': 'D006461', 'term': 'Hemolysis'}, {'id': 'D000740', 'term': 'Anemia'}, {'id': 'D000756', 'term': 'Anemia, Sideroblastic'}, {'id': 'D003554', 'term': 'Cystinosis'}, {'id': 'D019189', 'term': 'Iron Metabolism Disorders'}, {'id': 'D006453', 'term': 'Hemoglobinopathies'}, {'id': 'D017086', 'term': 'beta-Thalassemia'}, {'id': 'D017085', 'term': 'alpha-Thalassemia'}, {'id': 'C564858', 'term': 'Pyruvate Kinase Deficiency of Red Cells'}], 'ancestors': [{'id': 'D000745', 'term': 'Anemia, Hemolytic, Congenital'}, {'id': 'D000743', 'term': 'Anemia, Hemolytic'}, {'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'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D009190', 'term': 'Myelodysplastic Syndromes'}, {'id': 'D001855', 'term': 'Bone Marrow Diseases'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'documentSection': {'largeDocumentModule': {'largeDocs': [{'date': '2021-07-01', 'size': 682887, 'label': 'Study Protocol and Statistical Analysis Plan', 'hasIcf': False, 'hasSap': True, 'filename': 'Prot_SAP_000.pdf', 'typeAbbrev': 'Prot_SAP', 'uploadDate': '2023-02-17T03:58', 'hasProtocol': True}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 32564}, 'targetDuration': '15 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2021-11-30', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-12', 'completionDateStruct': {'date': '2036-11', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-01-09', 'studyFirstSubmitDate': '2023-12-04', 'studyFirstSubmitQcDate': '2024-01-09', 'lastUpdatePostDateStruct': {'date': '2024-01-19', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-01-19', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2024-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Estimation of Prevalence and Incidence of RADs', 'timeFrame': '15 years', 'description': "Demography and epidemiology\n\nTo collect and to describe demographics and epidemiological data of any type of RADs:\n\n* Estimate the population frequency of each RAD disease group and disease survival\n* Estimate the diagnosis delay\n* Identify cohorts of patients for research/clinical trials\n* Estimate disease severity\n* Assess the use of specific treatments\n\nDescriptive analyses will be undertaken at the end of the follow-up period using standard statistical methods to examine the subjects' demographics, disease characteristics and management. Data is updated yearly in an electronic CRF form while assuring homogenization in categorization and units.\n\nTime-to-event analyses, namely Kaplan-Meier and Cox proportional hazard regression will be used to estimate overall survival.\n\nMultivariate Cox proportional hazards regression models will be used to identify variables that are important to correlate survival."}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Sickle Cell Disease', 'Thalassemia', 'Red Blood Cell', 'Rare Hematological Disease', 'Rare Anemia Disorders', 'Sickle Cell Disease and Related Diseases', 'Hemoglobinopathy', 'Beta-Thalassemia', 'Alpha-Thalassemia', 'Sickel Cell Anemia', 'Pyruvate Kinase Deficiency'], 'conditions': ['Sickle Cell Disease', 'Thalassemia', 'Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder', 'Anemia Due to Membrane Defect', 'CDA', 'Sideroblastic Anemia', 'Constitutional Aplastic Anemia', 'Iron Metabolism Disorders', 'Hereditary Anemia']}, 'referencesModule': {'references': [{'type': 'BACKGROUND', 'citation': 'Colombatti, R., Gutiérrez-Valle, V., Diot-Lefebvre, C., Labidi, I., Boaro, M.P., Tamana, S., Kountouris, P., Kleanthous, M., Gulbis,B., Mañú-Pereira, M. (2021, October 20). Rare Anaemia Disorders European Epidemiological Platform (RADeep). 17th Annual Sickle Cell & Thalassaemia Conference and 3rd Annual Academy Sickle Cell & Thalassaemia Conference (ASCAT 2022), London, United Kingdom of Great Britain and Northern Ireland.'}], 'seeAlsoLinks': [{'url': 'https://eurobloodnet.eu/', 'label': 'EU EurobloodNet offficial Website'}, {'url': 'https://www.radeepnetwork.eu/', 'label': 'RADeep Official Website'}, {'url': 'https://health.ec.europa.eu/european-reference-networks/overview_en', 'label': 'European Commission website section on European Reference Networks'}]}, 'descriptionModule': {'briefSummary': 'Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation. Different medical entities classified as RADs by ORPHA classification are most of them chronic life threating disorders with many unmet needs for their proper clinical management creating an impact on European health systems. RADs present diagnostic challenges and their appropriate management requires from specialised multidisciplinary teams in Centers of expertise.\n\nAlthough there are some examples of well-established national registries on RADs in EU, the lack of recommendations for Rare disease registries implementation and the lack of standards for interoperability has led to the fragmentation or unavailability of data on prevalence, survival, main clinical manifestations or treatments in most of the European countries.', 'detailedDescription': "The Rare Anaemia Disorders European Epidemiological Platform (RADeep) is an initiative endorsed by the European Reference Network on Rare Hematological Diseases (ERN-EuroBloodNet) under the frame of the European Blood Disorders Platform (ENROL), the ERN-EuroBloodNet umbrella platform officially endorsed by the European Hematology Association (EHA) for European patients' registries on rare haematological diseases. RADeep will share pseudonymised level data with ENROL.\n\nRADeep supports the standardized collection of data of patients affected by any RADs at the European level, maximizing public benefit from data on RADs opened-up with the only restriction needed to guarantee patient rights and confidentiality, in agreement with the General Data Protection Regulation and applicable laws for cross-border sharing of personal data. RADeep has the following major objectives:\n\n1. To collect and describe the demographics, disease-management, and treatment outcomes of patients diagnosed with RADs\n2. To perform observational studies concerning research questions and to present outcomes in the fields of health related to organ damage and risk stratification for identification of trial cohorts for new drugs and/or development of research projects\n3. To promote harmonization and best practices in the prevention, diagnosis, treatment and follow-up of RADs patients by the dissemination of reliable Guidelines and the translation of research results into clinical practice."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '100 Years', 'minimumAge': '0 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with Rade Anemia Disease between 0 - 100 years old that accomplish all the inclusion criteria', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patients must meet all of the following criteria to be included in the RADeep Registry\n* Age from 0-100, both female and male\n* Diagnosed as RADs (SCD, THAL, PKD, and other RADs THAL according to ORPHANET classification)\n* Able and willing to provide written informed consent (patient or legal representative for minors)\n\nExclusion Criteria:\n\n* Patient or legal representative for minors unwilling or unable to give consent\n* Patients diagnosed with SCD or THAL (alpha-thalassaemia and beta-thalassaemia) traits or trait conditions for other recessive RADs'}, 'identificationModule': {'nctId': 'NCT06213402', 'acronym': 'RADeep', 'briefTitle': 'RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)', 'organization': {'class': 'OTHER', 'fullName': "Hospital Universitari Vall d'Hebron Research Institute"}, 'officialTitle': 'A Retrospective/Prospective, Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) With Clinical Significance.', 'orgStudyIdInfo': {'id': 'PR(AMI)427/2021'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Sickle cell anaemia and other related sickle diseases', 'description': 'Patients with sickle cell disease and related diseases in current regular follow-ups in European-Union health centers', 'interventionNames': ['Other: Data collection from EHR.']}, {'label': 'Thalassemia and related diseases', 'description': 'Patients with Thalassemia disease and related diseases in current regular follow-ups in European-Union health centers, stratified by age, gender, and/or variants/type if applicable.', 'interventionNames': ['Other: Data collection from EHR.']}, {'label': 'Pyruvate Kinase Deficiency and related diseases', 'description': 'Patients with Pyruvate Kinase Deficiency and related diseases in current regular follow-ups in European-Union health centers, stratified by age, gender, and/or variants/type if applicable.', 'interventionNames': ['Other: Data collection from EHR.']}, {'label': 'Red Blood Cell membrane disorders and related diseases', 'description': 'Patients with Reb Blood Cell membrane disorders and related diseases in current regular follow-ups in European-Union health centers, stratified by age, gender, and/or variants/type if applicable.', 'interventionNames': ['Other: Data collection from EHR.']}], 'interventions': [{'name': 'Data collection from EHR.', 'type': 'OTHER', 'description': 'Collection of clinical and laboratory data. Reviwe of the electronic health record', 'armGroupLabels': ['Pyruvate Kinase Deficiency and related diseases', 'Red Blood Cell membrane disorders and related diseases', 'Sickle cell anaemia and other related sickle diseases', 'Thalassemia and related diseases']}]}, 'contactsLocationsModule': {'locations': [{'zip': '08035', 'city': 'Barcelona', 'state': 'Catalonia', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'María del Mar Mañú Pereira, PhD', 'role': 'CONTACT', 'email': 'mar.manu@vhir.org', 'phone': '0034934893000'}, {'name': 'Victoria Gutiérrez Valle, Msc', 'role': 'CONTACT', 'email': 'victoria.gutierrez@vhir.org', 'phone': '+34934893000'}], 'facility': "Vall d'hebron Research Institute - Vall d'Hebron Research Institute - University Hospital Vall d'Hebrón (VHIR/HUVH)", 'geoPoint': {'lat': 41.38879, 'lon': 2.15899}}], 'centralContacts': [{'name': 'María del Mar Manú Pereira, PhD', 'role': 'CONTACT', 'email': 'mar.manu@vhir.org', 'phone': '0034934893000'}, {'name': 'Victoria Gutiérrez Valle, Msc', 'role': 'CONTACT', 'email': 'victoria.gutierrez@vhir.org', 'phone': '0034934893000'}], 'overallOfficials': [{'name': 'María del Mar Manú Pereira, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Vall d'hebron Research Institute - Vall d'Hebron Research Institute - University Hospital Vall d'Hebrón (VHIR/HUVH)"}, {'name': 'Béatrice Gulbis, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Hôpital ERASME (ERASME)'}, {'name': 'Petros Kountouris, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Cyprus Institute of Neurology and Genetics (CING)'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Hospital Universitari Vall d'Hebron Research Institute", 'class': 'OTHER'}, 'collaborators': [{'name': 'Erasme University Hospital', 'class': 'OTHER'}, {'name': 'Cyprus Institute of Neurology and Genetics', 'class': 'OTHER'}, {'name': 'EuroBloodNet Association', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}