[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"bone-marrow-failure-syndromes\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:bone-marrow-failure-syndromes":23},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,53,92],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":16,"targetDuration":19,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":36,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":41,"lastUpdatePostDateStruct":42,"startDateStruct":45,"completionDateStruct":47,"leadSponsor":49,"locationsCount":52},"100264360","investigation-of-the-genetics-of-hematologic-diseases-100264360",false,"NCT02720679","Investigation of the Genetics of Hematologic Diseases","Inclusion Criteria:\n\n* An individual (proband) receiving therapy or expert consultation regarding a non-malignant hematologic disorder, MDS or MPN.\n* A biologically-related individual to the identified proband to include: first, second or third degree relatives.\n\nExclusion Criteria:\n\n* None","ALL",{"count":17,"type":18},1716,"ESTIMATED","10 Years","OBSERVATIONAL","The purpose of this study is to collect and store samples and health information for current and future research to learn more about the causes and treatment of blood diseases. This is not a therapeutic or diagnostic protocol for clinical purposes. Blood, bone marrow, hair follicles, nail clippings, urine, saliva and buccal swabs, left over tissue, as well as health information will be used to study and learn about blood diseases by using genetic and\u002For genomic research. In general, genetic research studies specific genes of an individual; genomic research studies the complete genetic makeup of an individual.\n\nIt is not known why many people have blood diseases, because not all genes causing these diseases have been found. It is also not known why some people with the same disease are sicker than others, but this may be related to their genes. By studying the genomes in individuals with blood diseases and their family members, the investigators hope to learn more about how diseases develop and respond to treatment which may provide new and better ways to diagnose and treat blood diseases.\n\nPrimary Objective:\n\n* Establish a repository of DNA and cryopreserved blood cells with linked clinical information from individuals with non-malignant blood diseases and biologically-related family members, in conjunction with the existing St. Jude biorepository, to conduct genomic and functional studies to facilitate secondary objectives.\n\nSecondary Objectives:\n\n* Utilize next generation genomic sequencing technologies to Identify novel genetic alternations that associate with disease status in individuals with unexplained non-malignant blood diseases.\n* Use genomic approaches to identify modifier genes in individuals with defined monogenic non-malignant blood diseases.\n* Use genomic approaches to identify genetic variants associated with treatment outcomes and toxicities for individuals with non-malignant blood disease.\n* Use single cell genomics, transcriptomics, proteomics and metabolomics to investigate biomarkers for disease progression, sickle cell disease (SCD) pain events and the long-term cellular and molecular effects of hydroxyurea therapy.\n* Using longitudinal assessment of clinical and genetic, study the long-term outcomes and evolving genetic changes in non-malignant blood diseases.\n\nExploratory Objectives\n\n* Determine whether analysis of select patient-derived bone marrow hematopoietic progenitor\u002Fstem (HSPC) cells or induced pluripotent stem (iPS) cells can recapitulate genotype-phenotype relationships and provide insight into disease mechanisms.\n* Determine whether analysis of circulating mature blood cells and their progenitors from selected patients with suspected or proven genetic hematological disorders can recapitulate genotype-phenotype relationships and provide insight into disease mechanisms.",[23,24,25,26,27,28,29,30,31,32,33,34,35],"Bone Marrow Failure Syndromes","Erythrocyte Disorder","Leukocyte Disorder","Hemostasis","Blood Coagulation Disorder","Sickle Cell Disease","Dyskeratosis Congenita","Diamond-Blackfan Anemia","Congenital Thrombocytopenia","Severe Congenital Neutropenia","Fanconi Anemia","Myelodysplastic Syndromes","Myeloproliferative Diseases",[37,38,39],"Genetics","Whole genome sequencing","Pediatrics and hematology","RECRUITING","2026-06-05",{"date":43,"type":44},"2026-06-09","ACTUAL",{"date":46,"type":44},"2016-06-17",{"date":48,"type":18},"2050-07",{"name":50,"class":51},"St. Jude Children's Research Hospital","OTHER",1,{"id":54,"slug":55,"hasResults":11,"nctId":56,"briefTitle":57,"officialTitle":58,"acronym":59,"eligibilityCriteria":60,"healthyVolunteers":11,"sex":15,"minAge":61,"maxAge":62,"enrollmentInfo":63,"targetDuration":4,"studyType":65,"phases":66,"briefSummary":69,"conditions":70,"keywords":76,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":85,"completionDateStruct":87,"leadSponsor":89,"locationsCount":91},"100295674","phase-1-reduced-intensity-conditioning-and-familial-hla-mismatched-bmt-for-non-malignant-disorders-100295674","NCT03128996","Reduced Intensity Conditioning and Familial HLA-Mismatched BMT for Non-Malignant Disorders","A Phase I\u002FII Trial of Reduced Intensity Conditioning and Familial HLA-Mismatched Bone Marrow Transplantation in Children With Non-Malignant Disorders","FAM BMT","Inclusion Criteria:\n\n* Nonmalignant disorder requiring bone marrow transplant including bone marrow failure syndromes, metabolic disorders, immunologic disorders, or hemoglobinopathy\n* For patients with sickle cell disease, must have one of the following severe manifestations:\n\n  1. Overt or silent stroke or persistently elevated transcranial doppler velocities despite transfusion therapy\n  2. Recurrent acute chest syndrome with significant respiratory compromise each time\n  3. Sickle nephropathy\n  4. Recurrent admissions for vaso-occlusive episodes resulting in prolonged opioid use and poor quality of life with interrupted school attendance activity\n  5. Red cell alloimmunization with the need for chronic transfusions\n  6. Recurrent osteonecrosis or multiple joint involvement from avascular necrosis\n* Patients with sickle cell disease must have hemoglobin S \\\u003C 30% within 30 days prior to beginning alemtuzumab\n* Age \\\u003C\u002F= 20.99 years at the time of enrollment\n* Performance score \\>\u002F= 50\n* Left ventricular ejection fraction \\> 40% or left ventricular shortening fraction \\> 26% by echocardiogram\n* DLCO \\> 40% (corrected for hemoglobin) or pulse oximetry with a baseline O2 saturation of \\>\u002F= 90% on room air if too young to perform PFTs\n* Serum creatinine \\\u003C\u002F= 1.5x upper limit of normal for age and\u002For GFR \\> 70 mL\u002Fmin\u002F1.73m2\n* Direct bilirubin \\\u003C 2x upper limit of normal for age\n* ALT and AST \\\u003C 5x upper limit of normal for age\n* Participants who have or are receiving \\>\u002F= 8 packed red blood cell transfusions for \\>\u002F= 1 year or \\>\u002F= 20 packed red blood cell transfusions (lifetime cumulative) will undergo liver MRI for estimation of hepatic iron content.\n\n  1\\. Liver biopsy is indicated for hepatic iron content \\>\u002F= 7mg Fe\u002Fmg liver dry weight by liver MRI. Histologic examination of the liver must document for the absence of cirrhosis, bridging fibrosis, and active hepatitis\n* Female subjects of childbearing potential, must agree to practice 2 methods of contraception at the same time from the time of signing of informed consent through 12 months post transplant. Male subjects must agree to practice effective barrier contraception or practice true abstinence from the time of signing informed consent through 12 months post transplant.\n* Written informed consent must be obtained from all recipients in accordance with the guidelines of the institution's Human Studies Committee.\n\nExclusion Criteria:\n\n* Patients who have an HLA-identical sibling who is able and willing to donate bone marrow\n* Patients with cirrhosis or established bridging fibrosis of the liver or active hepatitis\n* Uncontrolled bacterial, viral, or fungal infection within 6 weeks prior to enrollment\n* Evidence of HIV infection or known HIV positive serology\n* Patients who have received a previous stem cell transplant\n* Patients who have received an investigational drug or device or off-label use of a drug or device within 3 months of enrollment\n* Females who are pregnant or breast feeding\n* Patients with active autoimmune disease (e.g. sarcoidosis, lupus, scleroderma)","1 Day","21 Years",{"count":64,"type":18},29,"INTERVENTIONAL",[67,68],"PHASE1","PHASE2","This study is designed to estimate the efficacy and toxicity of familial HLA mismatched bone marrow transplants in patients with non-malignant disease who are less than 21 years of age and could benefit from the procedure.",[71,23,72,73,74,75],"Severe Sickle Cell Disease","Metabolic Disorders","Immunologic Disorders","Hemoglobinopathies","Non-malignant Disorders",[77,78,79,80,81],"Bone marrow transplant","Transplant","Transplantation","Reduced Intensity","Familial HLA mismatched","2026-05-26",{"date":84,"type":44},"2026-05-29",{"date":86,"type":44},"2017-03-20",{"date":88,"type":18},"2033-04",{"name":90,"class":51},"Washington University School of Medicine",4,{"id":93,"slug":94,"hasResults":11,"nctId":95,"briefTitle":96,"officialTitle":97,"acronym":98,"eligibilityCriteria":99,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":100,"enrollmentInfo":101,"targetDuration":4,"studyType":65,"phases":103,"briefSummary":105,"conditions":106,"keywords":4,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":111,"lastUpdatePostDateStruct":112,"startDateStruct":114,"completionDateStruct":116,"leadSponsor":118,"locationsCount":52},"100236493","early-phase-1-expanded-access-protocol-using-cd3cd19-depleted-pbsc-100236493","NCT02356653","Expanded Access Protocol Using CD3+\u002FCD19+ Depleted PBSC","Expanded Access Protocol Using CD3+\u002FCD19+ Depleted Unrelated Donor or Related Donor Peripheral Stem Cells","ExpMACs","Inclusion Criteria:\n\n1. Patients who lack a fully HLA matched sibling and who are candidates for allogeneic hematopoietic stem cell transplant (HSCT) but are not deemed suitable candidates per their treating clinical team for current open institutional protocols using ClinMACs device for CD3+\u002FCD19+ depletion.\n2. Patients with the following transplantable diseases:\n\n   Non-malignant diseases:\n\n   Metabolic storage diseases correctable by HSCT, Bone marrow failure syndromes, Immunodeficiencies\u002Fimmune dysregulation syndromes\u002Fincluding HLH, Hemoglobinopathies correctable and requiring HSCT, and Other diseases treated with HSCT\u002FOther non-malignant blood, metabolic, or immune disorders for which HSCT has been recommended\n\n   Malignant diseases:\n\n   Acute leukemias, Chronic leukemias, Lymphomas, Myelodyplastic syndrome\n3. Signed informed consent\n4. Lansky or Karnofsky performance ≥60\n5. Hematologic and Organ Function per current institutional SOP.\n6. Infectious Evaluation as per current institutional SOP.\n7. Participants of childbearing potential must have a negative pregnancy test as per institutional SOP\n8. In cases that are deemed clinical emergencies (primary or secondary graft failure, severe marrow suppression), the above status criteria will be waived.\n9. Patients must have an identified living donor\n\n   * Donor selection will comply with 21 CFR 1271\n   * Unrelated donor that meets the matching criteria of the NMDP with allele matching at HLA -A, -B, -C, -DRB1, and -DQB1: Unrelated donors may be a 10\u002F10 match, a 9\u002F10 match, or an 8\u002F10 match if one of the mismatches is at DQB1\n   * Related donor suitable for mobilization infectious disease criteria as per SOP, including HIV, HepB, HepC PCR negative.\n   * CHOP BMT procedures apply for determining donor eligibility, including donor screening and testing for relevant communicable disease agents and diseases. Our donor collection program is FACT accredited.\n   * Unrelated donor identified through the National Marrow Donor Program (NMDP) and fulfills the NMDP criteria for donation. Unrelated donor willing and able to undergo mobilization of peripheral stem cells and apheresis.\n   * The donors selected for this IND will either be unrelated donors identified through the National Marrow Donor Program (NMDP) or related donors. Regarding the unrelated donors; NMDP procedures for determining donor eligibility include donor screening and testing for relevant communicable disease agents and diseases\n\nExclusion Criteria:\n\n1. Uncontrolled bacterial, viral or fungal infections\n2. Suitable, fully HLA matched sibling donor\n3. Donor unable to donate peripheral stem cells\n4. Pregnant participants","30 Years",{"count":102,"type":18},100,[104],"EARLY_PHASE1","The goal of this protocol is to expand access for patients who lack a fully HLA (Human leukocyte antigen) matched sibling donor and who are candidates for allogeneic hematopoietic stem cell transplant (HSCT). These patients have a serious or immediately life-threatening disease for which HSCT is indicated. These patients are not eligible for other Children's Hospital of Philadelphia IRB approved protocols that utilize CliniMACs technology for T depletion.",[107,108,23,109,110],"Leukemia","Inborn Errors of Metabolism","Immunodeficiencies","Immunodysregulation Polyendocrinopathy Enteropathy X-linked Syndrome","2026-02-18",{"date":113,"type":44},"2026-02-20",{"date":115,"type":4},"2013-12",{"date":117,"type":18},"2030-01",{"name":119,"class":51},"Children's Hospital of Philadelphia"]