Ignite Creation Date:
2025-12-24 @ 9:10 PM
Ignite Modification Date:
2025-12-30 @ 11:12 PM
Study NCT ID:
NCT06857604
Status:
RECRUITING
Last Update Posted:
2025-03-04
First Post:
2025-02-24
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
The Interplay Between Inborn Error of Immunity and Blood Disorders: Unravelling Immune Defects Behind Common Haematological Diseases
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006402', 'term': 'Hematologic Diseases'}], 'ancestors': [{'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'DIAGNOSTIC', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 700}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2024-11-15', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-02', 'completionDateStruct': {'date': '2027-07', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-02-27', 'studyFirstSubmitDate': '2025-02-24', 'studyFirstSubmitQcDate': '2025-02-27', 'lastUpdatePostDateStruct': {'date': '2025-03-04', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2025-03-04', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-07', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Number of children and young adults with blood disorders with new or known germline and somatic mutations that cause or modify disease, either in the lymphoid or myeloid compartments.', 'timeFrame': 'From enrollment to the end of analysis (36 months)'}], 'secondaryOutcomes': [{'measure': 'Percentage of pediatric and adolescent-young adult patients with hematologic disorders with altered immunological profiles', 'timeFrame': 'From enrollment to the end of analysis (36 months)'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Hematologic Diseases']}, 'descriptionModule': {'briefSummary': 'The universe of Inborn errors of Immunity (IEI) is rapidly expanding: their clinical spectrum is not only characterised by infections but often includes haematological complications. Moreover, an increasing number of "IEI phenocopies" due to somatic mutations in specific cell types are progressively being unveiled and complicate the genetic plot of IEI, which are therefore not only caused by germline mutations. However, these aspects have never been studied by large prospective studies.\n\nThis study aims to fill this gap by prospectively recruiting patients \\<25 y/o with haematologic disorders that fall into one of the following 4 subgroups: autoimmune cytopenia (AICs), polyclonal lymphoproliferation (PL), monoclonal (malignant) lymphoproliferation (ML), bone marrow failure/myelodysplasia (BMF/MDS). Recruited subjects will undergo an extensive immunologic workup (extended immunophenotyping, cytokine and autoantibody dosage) together with genetic testing (NGS) to detect both germline and somatic variants. Bulk RNA sequencing will be performed either as functional validation of variants or to identify altered pathways in selected cases with inconclusive genetics. Patient advocacy organisations (PAOs) will be pivotal to assist patients\' needs throughout the project and to raise awareness of predictive and yet unknown signs of IEI.\n\nThe study involves recruitment a total of almost 700 children over a 3-year period. Considering recent studies on AICs and BMF/MDS, a global detection rate of 30% "hidden" IEI is expected, with higher rates in the AIC subgroup and lower ones for ML, given the complexity of lymphoma pathogenesis. New IEI candidate genes or new examples of IEI phenocopies are expected to be identified.\n\nThe immunological workup should detect early disease biomarkers or currently unknown molecular signatures of specific disorders. These may increase the chance of identifying an IEI in a specific subgroup and promptly address the patient to a targeted treatment or to hematopoietic stem cell transplantation, avoiding late complications, increasing patients\' survival, and abating the economic burden of the disease on healthcare services. Finally, involvement of PAOs may foster patients\' knowledge about their condition, increasing their compliance to disease follow-up and treatment and ameliorating their quality of life.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '25 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Patients age \\< 25 years\n2. Patients with diagnosed autoimmune cytopenias (AIC), polyclonal lymphoproliferation (PL), lymphoma (ML), bone marrow failure, and myelodysplastic syndrome (BMF/MDS) (see details below)\n3. Signed Informed Consent\n\nExclusion Criteria:\n\n1. Patients with Lymphoma secondary to HIV or transplant\n2. Patient with self-resolving or post-infective AICs'}, 'identificationModule': {'nctId': 'NCT06857604', 'briefTitle': 'The Interplay Between Inborn Error of Immunity and Blood Disorders: Unravelling Immune Defects Behind Common Haematological Diseases', 'organization': {'class': 'OTHER', 'fullName': "Meyer Children's Hospital IRCCS"}, 'officialTitle': 'The Interplay Between Inborn Error of Immunity and Blood Disorders: Unravelling Immune Defects Behind Common Haematological Diseases', 'orgStudyIdInfo': {'id': 'IEI-Haem'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'OTHER', 'label': 'Patients with Haematological Disorders', 'description': 'Patients with diagnosed autoimmune cytopenias (AIC), polyclonal lymphoproliferation (PL), lymphoma (ML), bone marrow failure, and myelodysplastic syndrome (BMF/MDS)', 'interventionNames': ['Other: Biological samples']}], 'interventions': [{'name': 'Biological samples', 'type': 'OTHER', 'description': 'Immunological Screening and Genetic analysis', 'armGroupLabels': ['Patients with Haematological Disorders']}]}, 'contactsLocationsModule': {'locations': [{'city': 'Montreal', 'state': 'Canada', 'status': 'RECRUITING', 'country': 'Canada', 'contacts': [{'name': 'Elie Haddad', 'role': 'CONTACT', 'email': 'elie.haddad@umontreal.ca'}], 'facility': 'CHU Sainte-Justine', 'geoPoint': {'lat': 45.50884, 'lon': -73.58781}}, {'city': 'Montreal', 'state': 'Canada', 'status': 'RECRUITING', 'country': 'Canada', 'contacts': [{'name': 'Vincent-Philippe Lavallee', 'role': 'CONTACT', 'email': 'vincent-philippe.lavallee@umontreal.ca'}], 'facility': 'CHU Sainte-Justine', 'geoPoint': {'lat': 45.50884, 'lon': -73.58781}}, {'city': 'Paris', 'state': 'France', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Frederic Rieux-Laucat', 'role': 'CONTACT', 'email': 'Frederic.rieux-laucat@inserm.fr'}], 'facility': 'Institut Imagine', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '50139', 'city': 'Florence', 'state': 'Fi', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Gambineri', 'role': 'CONTACT', 'email': 'eleonora.gambineri@meyer.it', 'phone': '+390555662624'}], 'facility': "Meyer Children's Hospital IRCCS, Firenze", 'geoPoint': {'lat': 43.77925, 'lon': 11.24626}}, {'city': 'Rome', 'state': 'Italy', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Maria Teresa Voso', 'role': 'CONTACT', 'email': 'Voso@med.uniroma2.it'}], 'facility': 'University of Rome Tor Vergata', 'geoPoint': {'lat': 41.89193, 'lon': 12.51133}}, {'city': 'Barcelona', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Pere Soler Palacin', 'role': 'CONTACT', 'email': 'pere.soler@vallhebron.cat'}], 'facility': "Vall d'Hebron Institut de Recerca", 'geoPoint': {'lat': 41.38879, 'lon': 2.15899}}, {'city': 'Stockholm', 'state': 'Sweden', 'status': 'RECRUITING', 'country': 'Sweden', 'contacts': [{'name': 'Qiang Pan-Hammarström', 'role': 'CONTACT', 'email': 'Qiang.Pan-Hammarstrom@ki.se'}], 'facility': 'Karolinska Institutet', 'geoPoint': {'lat': 59.32938, 'lon': 18.06871}}], 'centralContacts': [{'name': 'Eleonora Gambineri, MD', 'role': 'CONTACT', 'email': 'eleonora.gambineri@meyer.it', 'phone': '+390555662624'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Meyer Children's Hospital IRCCS", 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Medical Doctor', 'investigatorFullName': 'Eleonora Gambineri', 'investigatorAffiliation': "Meyer Children's Hospital IRCCS"}}}}