[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"inherited-bmf-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:inherited-bmf-syndrome":35},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,61,121,150],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":26,"conditions":27,"keywords":42,"overallStatus":48,"whyStopped":4,"lastUpdateSubmitDate":49,"lastUpdatePostDateStruct":50,"startDateStruct":53,"completionDateStruct":55,"leadSponsor":57,"locationsCount":60},"100580604","phase-1-phase-12-cd45ra-depleted-stem-cell-addback-to-prevent-viral-or-fungal-infections-post-tcrabcd19-depleted-hsct-100580604",false,"NCT06839456","Phase 1\u002F2: CD45RA Depleted Stem Cell Addback to Prevent Viral or Fungal Infections Post TCRab\u002FCD19 Depleted HSCT","Phase 1\u002F2 Study: CD45RA Depleted Peripheral Stem Cell Addback to Prevent Viral and Fungal Infections Following Alternative Donor TCRab\u002FCD19 Depleted Hematopoietic Stem Cell Transplant","Inclusion Criteria:\n\n1. Disease for which allogeneic HSCT may be curative.\n2. Remission status of hematologic malignancies and additional disease-specific eligibility determinations will be according to standards of practice within the CHOP Cellular Immunotherapy and Transplant Program (CTTS).\n3. Patients must be 25 years of age and less\n4. Evaluation for organ and infectious status as per our CTTS standard operating procedure.\n5. Signed consent by parent\u002Fguardian or able to give consent if 18 years of age and older.\n6. Participants of childbearing potential must have a negative pregnancy test as per institutional SOP.\n\nExclusion Criteria:\n\n1. Patients who have performance score less than 60.\n2. No suitable donor available for mobilized peripheral stem cells.\n3. Patients with Hodgkin lymphoma or non-Burkitt, non-lymphoblastic lymphoma.\n4. Planned receipt of alemtuzumab during conditioning.\n5. Patients with an available 10\u002F10 HLA matched sibling donor.\n6. Patients who do not meet institutional disease, organ or infectious criteria.\n\nDonor selection and eligibility:\n\n1. Unrelated donor meets National Marrow Donor Program criteria for donation.\n2. Related donor (at least haploidentical) willing and able to donate mobilized peripheral stem cells.\n3. HLA testing\u002Fmatching\n\n   * HLA testing to be done by molecular methods for A, B, C, DRB1, DQB1\n   * Related donor: Must be ≥ 5\u002F10 match\n   * Unrelated donor: 10\u002F10 or 9\u002F10 match\n   * KIR typing for haploidentical donor for hematologic malignancies\n   * Donor specific HLA antibodies (DSA) should be assessed for all subjects receiving an HLA mismatched graft (≤ 9\u002F10).\n4. Donor must be willing to undergo granulocyte colony stimulating factor (GCSF) mobilization and peripheral blood stem cell collection\n5. Donors must be willing to sign consent to participate in this study.","ALL","1 Month","25 Years",{"count":20,"type":21},100,"ESTIMATED","INTERVENTIONAL",[24,25],"PHASE1","PHASE2","The major morbidities of allogeneic hematopoietic stem cell transplant (HSCT) using donors that are not human leukocyte antigen (HLA) matched siblings are graft vs host disease (GVHD) and life- threatening infections. T cell receptor alpha beta (TCRαβ) T lymphocyte depletion and CD19+ B lymphocyte depletion of alternative donor hematopoietic stem cell (HSC) grafts is effective in preventing GVHD, but immune reconstitution may be delayed, increasing the risk of infections. The central hypothesis of this study is that an addback of CD45RO memory T lymphocytes, derived from a fraction of the original donor peripheral stem cell product depleted of CD45RA naïve T lymphocytes, will accelerate immune reconstitution and help decrease the risk of infections in TCRab\u002FCD19 depleted PSCT.",[28,29,30,31,32,33,34,35,36,37,38,39,40,41],"Leukemia","High Risk Acute Lymphoblastic Leukemia","High Risk Acute Myeloid Leukemia","Relapse Leukemia","MDS (Myelodysplastic Syndrome)","Relapsed Non-Hodgkin Lymphoma","Acquired Aplastic Anemia","Inherited BMF Syndrome","Immunodeficiency","Primary Immune Regulatory Disorder","Hemoglobinopathies","Bone Marrow Failure","Inborn Errors of Metabolism","HLH",[43,44,45,46,47],"alpha beta T cell depletion","CD45RA","CD45RO","GVHD prevention","Memory T cells","RECRUITING","2026-04-13",{"date":51,"type":52},"2026-04-15","ACTUAL",{"date":54,"type":52},"2025-03-21",{"date":56,"type":21},"2032-03",{"name":58,"class":59},"Children's Hospital of Philadelphia","OTHER",1,{"id":62,"slug":63,"hasResults":11,"nctId":64,"briefTitle":65,"officialTitle":66,"acronym":67,"eligibilityCriteria":68,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":69,"targetDuration":71,"studyType":72,"phases":4,"briefSummary":73,"conditions":74,"keywords":101,"overallStatus":48,"whyStopped":4,"lastUpdateSubmitDate":112,"lastUpdatePostDateStruct":113,"startDateStruct":115,"completionDateStruct":117,"leadSponsor":119,"locationsCount":60},"100592939","shwachman-diamond-syndrome-global-patient-survey-and-partnering-platform-100592939","NCT06999954","Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform","The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)","SDS-GPS","Inclusion Criteria:\n\nThe Program invites patients of all ages who have a confirmed diagnosis of the below, using established diagnostic guidelines, plus their parents\u002Fcaregivers.\n\n* Patients with a confirmed Shwachman-Diamond Syndrome (SDS) diagnosis, including a genetic or clinical diagnosis. The initial focus will be on patients with a genetic diagnosis of SDS based on biallelic mutations in SBDS or EFL1.\n* Patients with a confirmed diagnosis of an SDS-like syndrome (e.g. due to mutations in DNAJC21, SRP54, or other genes that may be associated with an SDS-like syndrome in the future).\n* Patients with other heritable hematological malignancy disorders (such as RUNX1-FPD, Fanconi Anemia) and\u002For congenital neutropenias (such as ELANE neutropenia) are also eligible for inclusion.\n* Caregivers, parents, and close relatives of all patients above, including of patients alive or deceased.\n\nExclusion Criteria:\n\n● People who do not meet the above criteria.",{"count":70,"type":21},8000,"120 Years","OBSERVATIONAL","The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe, secure, and convenient online platform, to\n\n* expand the understanding of SDS\n* improve the lives of people with SDS, and\n* accelerate the development of new therapies and cures for SDS.\n\nBy joining, participants will receive early access to relevant information about new clinical trials and other research opportunities (such as clinical registries) based on their profile, accelerating research and increasing clinical trial impact and recruitment success.\n\nThe platform, consent forms, and surveys are available in five languages: English, Spanish, French, German, and Italian. More languages to come.",[75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,35,97,98,99,100],"Shwachman-Diamond Syndrome","SDS","IBMF","Congenital Neutropenia","Heme Malignancy","Shwachman Syndrome","Inherited Bone Marrow Failure","Exocrine Pancreatic Insufficiency","WHIM","ELANE","SBDS Gene Mutation","EFL1 Gene Mutation","DNAJC21 Gene Mutation","SRP54 Gene Mutation","Inherited Cancer Syndrome","Inherited Cancer-Predisposing Syndrome","Neutropenia, Severe Chronic","Neutropenia Other","Neutropenia Chronic Benign","Ribosome Alteration","Ribosomopathy","Immune Deficiency","Inherited Immunodeficiency Diseases","Cognitive Delay, Mild","Myelodysplastic Syndromes","Pancytopenia",[75,102,80,76,77,81,78,96,103,104,83,84,105,106,107,108,109,110,111],"Shwachman Diamond Syndrome","SDS-like syndrome","genetic cancer predisposition","SBDS","EFL1","SRP54","DNAJC21","severe chronic neutropenia","exocrine pancreatic insufficiency","ribosomopathy","2025-05-23",{"date":114,"type":52},"2025-05-31",{"date":116,"type":52},"2024-02-07",{"date":118,"type":21},"2088-12",{"name":120,"class":59},"Shwachman-Diamond Syndrome Alliance Inc",{"id":122,"slug":123,"hasResults":11,"nctId":124,"briefTitle":125,"officialTitle":126,"acronym":127,"eligibilityCriteria":128,"healthyVolunteers":11,"sex":16,"minAge":129,"maxAge":4,"enrollmentInfo":130,"targetDuration":4,"studyType":72,"phases":4,"briefSummary":132,"conditions":133,"keywords":136,"overallStatus":48,"whyStopped":4,"lastUpdateSubmitDate":141,"lastUpdatePostDateStruct":142,"startDateStruct":144,"completionDateStruct":146,"leadSponsor":148,"locationsCount":60},"100454380","diagnosis-and-phenotype-characterisation-using-genomics-in-patients-with-inherited-bone-marrow-failure-ibmdx-study-100454380","NCT05196789","Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)","Diagnosis, Discovery and Novel Phenotype Characterisation Using Multimodal Genomics in Patients With Inherited Bone Marrow Failure and Related Disorders (IBMDx Study)","IBMDx","Inclusion Criteria:\n\n1. age ≥ 3 months\n2. able to give informed consent (or parent\u002Fguardian able to give informed consent)\n3. a clinicopathological diagnosis (or differential diagnosis) of inherited bone marrow failure syndrome or related disorder (IBMFS-RD) as per the study team\n\nExclusion Criteria:\n\n1. A clinicopathological diagnosis of an acquired bone marrow failure syndrome (including acquired aplastic anaemia and hypoplastic myelodysplastic syndrome) as per the study team\n2. Existing definitive genomic diagnosis for patient's haematological phenotype","3 Months",{"count":131,"type":21},350,"This project seeks to perform whole genome sequence (WGS) and whole transcriptome sequence (WTS) analysis on 350 patients with suspected inherited bone marrow failure syndromes and related disorder (IBMFS-RD) in order to increase the genomic diagnostic rate in IBMFS.",[35,134,135],"Inherited Platelet Disorder","Hematologic Diseases",[137,138,139,140],"bone marrow failure syndrome","whole genome sequencing","hematological diseases","pancytopenia","2024-11-05",{"date":143,"type":52},"2024-11-07",{"date":145,"type":52},"2022-03-18",{"date":147,"type":21},"2025-12",{"name":149,"class":59},"Peter MacCallum Cancer Centre, Australia",{"id":151,"slug":152,"hasResults":11,"nctId":153,"briefTitle":154,"officialTitle":155,"acronym":4,"eligibilityCriteria":156,"healthyVolunteers":157,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":158,"targetDuration":4,"studyType":72,"phases":4,"briefSummary":160,"conditions":161,"keywords":4,"overallStatus":48,"whyStopped":4,"lastUpdateSubmitDate":162,"lastUpdatePostDateStruct":163,"startDateStruct":165,"completionDateStruct":167,"leadSponsor":169,"locationsCount":60},"100472799","mutations-and-phenotypes-of-unclassifiable-inherited-bone-marrow-failure-syndromes-100472799","NCT05436587","Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes","Identification of The Novel Mutations and A Comprehensive Analysis of The Phenotype and Genetic Etiology Underlying Unclassifiable Inherited Bone Marrow Failure Syndromes With Bone Fragility Fractures","Inclusion Criteria:\n\n* Confirmed a two-generational family with IBMFSs presented with signs and symptoms of bone fragility fractures and admitted or treated in Hematology Division at Internal Medicine Departments of various university hospitals will be screened for enrollment in this study.\n* The investigators will invite the entire family for testing for IBMFSs mutations, and three additional family members consented to participate in this study.\n\nExclusion Criteria:\n\n* • Patients will be diagnosed with paroxysmal nocturnal hemoglobinuria\n\n  * Patients will be diagnosed with de novo myelodysplastic syndrome\n  * IBMFSs-patients will refuse to consent to this study.\n  * Serologic evidence of recent virus infection as hepatitis A (HAV), HBV, HCV, HEV, cytomegalovirus (CMV), Epstein-Barr virus (EBV), or positive test for HIV.\n  * IBMFSs patients with severe systemic diseases (such as cardiovascular, renal, and hepatic disease) or surgical\u002Fmedical conditions that might interfere with follow-up instructions.\n  * IBMFs patients with psychiatric disorders or a history of drug abuse,",true,{"count":159,"type":21},250,"Inherited bone marrow failure syndromes (IBMFSs) are a diverse collection of genetic illnesses characterized by various degrees of peripheral cytopenias due to defective single-lineage or multi-lineage hematopoiesis, it can manifest itself at birth or later in life.",[35],"2022-06-28",{"date":164,"type":52},"2022-07-01",{"date":166,"type":52},"2022-01-10",{"date":168,"type":21},"2028-01",{"name":170,"class":59},"Sohag University"]