[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"diamond-blackfan-anemia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:diamond-blackfan-anemia":106},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,92,125,158,184,216],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":69,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":80,"lastUpdatePostDateStruct":81,"startDateStruct":84,"completionDateStruct":86,"leadSponsor":88,"locationsCount":91},"100289631","familial-investigations-of-childhood-cancer-predisposition-100289631",false,"NCT03050268","Familial Investigations of Childhood Cancer Predisposition","SJFAMILY","NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown below, you may enroll regardless of the results of your clinical genetic testing.\n\nDEFINITION OF FAMILIAR CANCER FOR THIS PROTOCOL:\n\nIn this protocol, the definition of \"Familial Cancer\" is met if any of the following is present:\n\n* An individual with a history of cancer diagnosed under 26 years of age who has at least one first, second or third degree relative with a history of cancer diagnosed under 51 years of age; OR\n* An individual who has been diagnosed with more than one cancer, at least one of which was diagnosed under 26 years of age; OR\n* An individual with a clinical or molecular diagnosis of a known cancer predisposition syndrome; OR\n* An individual with a congenital cancer diagnosed before 6 months of age; OR\n* An individual with a rare pediatric cancer or tumor diagnosed before 26 years of age\n\nº Excluding human papilloma virus-associated cervical cancer and non-melanoma skin cancer occurring in adults.\n\nINCLUSION CRITERIA:\n\n* An individual who meets this protocol's definition of \"Familial Cancer,\" as above.\n* Biologic relatives of an individual meeting this protocol's definition of \"Familial Cancer,\" who are either affected or unaffected by cancer.\n\nEXCLUSION CRITERIA:\n\n* An inability or unwillingness of the research participant or his\u002Fher legally authorized representative (LAR) to provide written informed consent.\n* The participant has received allogeneic bone marrow transplantation and has NO pre-transplant germline (cancer-unaffected) DNA available AND is unwilling to provide a skin sample.","ALL",{"count":18,"type":19},1500,"ESTIMATED","OBSERVATIONAL","NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown in the Eligibility Section, you may enroll regardless of the results of your clinical genetic testing.\n\nWhile it is well recognized that hereditary factors contribute to the development of a subset of human cancers, the cause for many cancers remains unknown. The application of next generation sequencing (NGS) technologies has expanded knowledge in the field of hereditary cancer predisposition. Currently, more than 100 cancer predisposing genes have been identified, and it is now estimated that approximately 10% of all cancer patients have an underlying genetic predisposition.\n\nThe purpose of this protocol is to identify novel cancer predisposing genes and\u002For genetic variants. For this study, the investigators will establish a Data Registry linked to a Repository of biological samples. Health information, blood samples and occasionally leftover tumor samples will be collected from individuals with familial cancer. The investigators will use NGS approaches to find changes in genes that may be important in the development of familial cancer. The information gained from this study may provide new and better ways to diagnose and care for people with hereditary cancer.\n\nPRIMARY OBJECTIVE:\n\n* Establish a registry of families with clustering of cancer in which clinical data are linked to a repository of cryopreserved blood cells, germline DNA, and tumor tissues from the proband and other family members.\n\nSECONDARY OBJECTIVE:\n\n* Identify novel cancer predisposing genes and\u002For genetic variants in families with clustering of cancer for which the underlying genetic basis is unknown.",[23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68],"Acute Leukemia","Adenomatous Polyposis","Adrenocortical Carcinoma","AML","BAP1 Tumor Predisposition Syndrome","Carney Complex","Choroid Plexus Carcinoma","Constitutional Mismatch Repair Deficiency Syndrome","Diamond-Blackfan Anemia","DICER1 Syndrome","Dyskeratosis Congenita","Emberger Syndrome","Familial Acute Myeloid Leukemia","Familial Adenomatous Polyposis","Fanconi Anemia","Familial Cancer","Familial Wilms Tumor","Familial Neuroblastoma","GIST","Hereditary Breast and Ovarian Cancer","Hereditary Paraganglioma-Pheochromocytoma Syndrome","Hodgkin Lymphoma","Juvenile Polyposis","Li-Fraumeni Syndrome","Lynch Syndrome","MDS","Melanoma Syndrome","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Neuroblastoma","Neurofibromatosis Type 1","Neurofibromatosis Type II","Nevoid Basal Cell Carcinoma Syndrome","Non Hodgkin Lymphoma","Noonan Syndrome and Other Rasopathy","Overgrowth Syndromes","Pancreatic Cancer","Peutz-Jeghers Syndrome","Pheochromocytoma\u002FParaganglioma","PTEN Hamartoma Tumor Syndrome","Retinoblastoma","Rhabdoid Tumor Predisposition Syndrome","Rhabdomyosarcoma","Rothmund-Thomson Syndrome","Tuberous Sclerosis","Von Hippel-Lindau Disease",[70,71,72,73,74,75,76,77,78],"Familial cancer","Genetic predisposition","Heritable disease","Cancer risk","Genome analysis","Genetic modifiers","Next generation sequencing (NGS)","Genetic counseling","DNA","RECRUITING","2026-06-15",{"date":82,"type":83},"2026-06-17","ACTUAL",{"date":85,"type":83},"2017-04-06",{"date":87,"type":19},"2037-03-31",{"name":89,"class":90},"St. Jude Children's Research Hospital","OTHER",1,{"id":93,"slug":94,"hasResults":11,"nctId":95,"briefTitle":96,"officialTitle":97,"acronym":4,"eligibilityCriteria":98,"healthyVolunteers":99,"sex":16,"minAge":100,"maxAge":101,"enrollmentInfo":102,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":104,"conditions":105,"keywords":109,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":116,"lastUpdatePostDateStruct":117,"startDateStruct":119,"completionDateStruct":4,"leadSponsor":121,"locationsCount":124},"100060136","cancer-in-inherited-bone-marrow-failure-syndromes-100060136","NCT00027274","Cancer in Inherited Bone Marrow Failure Syndromes","Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study","* INCLUSION CRITERIA:\n\nThe participants will be affected by an IBMFS, or be members of a family with an IBMFS, and be at risk of being affected or carriers of the syndrome. Except for the rare X-linked recessive disorder (e.g. some dyskeratosis congenita patients), there should be equal numbers of male and female probands and family members. These IBMFS have been reported in most racial and ethnic groups, and thus all such groups will be included. The age range will be from birth to old age (grandparents of probands). The majority of the probands will be children (10-20% will be adults), and their parents and grandparents will be adults. All racial\u002Fethnic groups are eligible.\n\nINCLUSION CRITERIA for Patients:\n\n* Fanconi s anemia.\n* Diamond Blackfan anemia.\n* Dyskeratosis congenita.\n* Shwachman Diamond Syndrome.\n* Amegakaryocytic thrombocytopenia.\n* Thrombocytopenia absent radii.\n* Severe Congenital Neutropenia.\n* Pearson Syndrome.\n* Other bone marrow failure syndromes.\n\nFamily Members of IBMFS - Affected Subjects:\n\n-Family members include first degree relatives of IBMFS-affected subjects as defined here, i.e. siblings (half or full), biologic parents, and children. Grandparents of IBMFS-affected subjects are also included, specifically for Hypothesis 4. The age range will be from birth to old age (grandparents of probands).\n\nPatients in the general population:\n\n-Patients in the general population with sporadic tumors of the types seen in the IBMFS (head and neck, gastrointestinal, and anogenital cancer), with none of the usual risk factors for those tumors (e.g. smoking, drinking, HPV). These patients will be further evaluated for an IBMFS by the referring physician under the guidance of the study investigators and if diagnosed with an IBMFS or if not diagnosed but highly suspicious for an IBMFS, would be eligible for inclusion in the Field and Clinic Center cohorts.\n\nEXCLUSION CRITERIA:\n\n-Affected: An individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Evidence that the hematologic disorder is acquired rather than genetic. Such evidence includes temporal relation of the aplastic anemia to known marrow suppressant drugs, chemicals, toxins, or viruses (in the absence of evidence indicative of an inherited marrow failure disorder).\n* Known causes of cytopenias such as autoantibodies to red cells, platelets, or neutrophils, viruses (especially hepatitis), micronutrient deficiencies, transient erythroblastopenia of childhood, and cyclic neutropenia.\n* Assignment of the patient s physical findings to other syndromes or causes that are not part of the IBMFS disease spectrum.\n* Inability of the participant or LAR to understand and be willing to sign a written informed consent document.\n* Unwillingness to permit access to medical records and pathology specimens.\n\nThere are no other exclusion parameters not related to the primary disease.\n\n-Unaffected\u002FFamily Members: An individual who meets any of the following criteria will be excluded from participation in this study:\n\n* If there is no affected individual in the family who meets the inclusion criteria\n* Inability of the participant or LAR to understand and be willing to sign a written informed consent document.\n* Unwillingness to permit access to medical records and pathology specimens.",true,"1 Day","100 Years",{"count":103,"type":19},4000,"Background:\n\nA prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.\n\nPathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers.\n\nPatients with IBMFS who develop cancer differ in their genetic and\u002For environmental features from patients with IBMFS who do not develop cancer.\n\nThese cancer-prone families are well suited for cancer screening and prevention trials targeting those at increased genetic risk of cancer.\n\nCarriers of IBMFS pathogenic variant(s) are at increased risk of cancer.\n\nThe prototype disorder is Fanconi's Anemia (FA); other IBMFS will also be studied.\n\nObjectives:\n\nTo determine the types and incidence of specific cancers in patients with an IBMFS.\n\nTo investigate the relevance of IBMFS pathogenic variant(s) in the carcinogenesis pathway of the sporadic counterparts of IBMFS-associated cancers.\n\nTo identify risk factors for IBMFS-related cancers in addition to the primary germline pathogenic variant(s).\n\nTo determine the risk of cancer in IBMFS carriers.\n\nEligibility:\n\nNorth American families with a proband with an IBMFS.\n\nIBMFS suspected by phenotype, confirmed by pathogenic variant(s) in an IBMFS gene, or by clinical diagnostic test.\n\nFanconi's anemia: birth defects, marrow failure, early onset malignancy; positive chromosome breakage result.\n\nDiamond-Blackfan anemia: pure red cell aplasia; elevated red cell adenosine deaminase.\n\nDyskeratosis congenita: dysplastic nails, lacey pigmentation, leukoplakia; marrow failure.\n\nShwachman-Diamond Syndrome: malabsorption; neutropenia.\n\nAmegakaryocytic thrombocytopenia: early onset thrombocytopenia.\n\nThrombocytopenia absent radii: absent radii; early onset thrombocytopenia.\n\nSevere Congenital Neutropenia: neutropenia, pyogenic infections, bone marrow maturation arrest.\n\nPearson's Syndrome: malabsorption, neutropenia, marrow failure, metabolic acidosis; ringed sideroblasts.\n\nOther bone marrow failure syndromes: e.g. Revesz Syndrome, WT, IVIC, radio-ulnar synostosis, ataxia-pancytopenia.\n\nFirst degree relatives of IBMFS-affected subjects as defined here, i.e. siblings (half or full), biologic parents, and children.\n\nGrandparents of IBMFS-affected subjects.\n\nPatients in the general population with sporadic tumors of the types seen in the IBMFS (head and neck, gastrointestinal, and anogenital cancer), with none of the usual risk factors (e.g. smoking, drinking, HPV).\n\nDesign:\n\nNatural history study, with questionnaires, clinical evaluations, clinical and research laboratory test, review of medical records, cancer surveillance.\n\nPrimary endpoints are all cancers, solid tumors, and cancers specific to each type of IBMFS.\n\nSecondary endpoints are markers of pre-malignant conditions, such as leukoplakia, serum or tissue evidence of carcinogenic viruses, and bone marrow morphologic myelodyplastic syndrome or cytogenetic clones.",[106,33,37,107,108],"Diamond Blackfan Anemia","Shwachman Diamond Syndrome","Inherited Bone Marrow Failure Syndrome, Aplastic Anemia",[37,106,33,107,110,111,112,113,114,115,38],"Hereditary","Natural History","Fanconi's Anemia","Bone Marrow","Inherited Bone Marrow Failure Syndromes","IBMFS","2026-06-11",{"date":118,"type":83},"2026-06-12",{"date":120,"type":83},"2001-11-28",{"name":122,"class":123},"National Cancer Institute (NCI)","NIH",2,{"id":126,"slug":127,"hasResults":11,"nctId":128,"briefTitle":129,"officialTitle":129,"acronym":4,"eligibilityCriteria":130,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":131,"targetDuration":133,"studyType":20,"phases":4,"briefSummary":134,"conditions":135,"keywords":146,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":150,"lastUpdatePostDateStruct":151,"startDateStruct":153,"completionDateStruct":155,"leadSponsor":157,"locationsCount":91},"100264360","investigation-of-the-genetics-of-hematologic-diseases-100264360","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",{"count":132,"type":19},1716,"10 Years","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.",[136,137,138,139,140,141,33,31,142,143,37,144,145],"Bone Marrow Failure Syndromes","Erythrocyte Disorder","Leukocyte Disorder","Hemostasis","Blood Coagulation Disorder","Sickle Cell Disease","Congenital Thrombocytopenia","Severe Congenital Neutropenia","Myelodysplastic Syndromes","Myeloproliferative Diseases",[147,148,149],"Genetics","Whole genome sequencing","Pediatrics and hematology","2026-06-05",{"date":152,"type":83},"2026-06-09",{"date":154,"type":83},"2016-06-17",{"date":156,"type":19},"2050-07",{"name":89,"class":90},{"id":159,"slug":160,"hasResults":11,"nctId":161,"briefTitle":162,"officialTitle":163,"acronym":4,"eligibilityCriteria":164,"healthyVolunteers":11,"sex":16,"minAge":165,"maxAge":166,"enrollmentInfo":167,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":169,"conditions":170,"keywords":171,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":175,"lastUpdatePostDateStruct":176,"startDateStruct":178,"completionDateStruct":180,"leadSponsor":182,"locationsCount":91},"100607255","mobilization-of-cd34-peripheral-blood-stem-cells-in-patients-with-diamond-blackfan-anemia-syndrome-dbas-100607255","NCT07186179","Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)","Mobilization of CD34+ Peripheral Blood Stem Cells With Filgrastim (Granulocyte-colony Stimulating Factor) and Plerixafor From Patients With Diamond Blackfan Anemia Syndrome","Inclusion Criteria:\n\n1. Diamond Blackfan anemia syndrome as defined by the known criteria with a known gene mutation\n2. Male or female patients of all ethnic background, greater than or equal to 3 years of age and weighing at least 10 kg, and less than or equal to 30 years of age\n3. Enrolled in Diamond Blackfan Anemia Registry of North America (DBAR)\n4. Chronically red blood cell transfusion dependent for at least 6 months\n5. Performance scale (Lansky Play-performance Scale for Pediatric Functional Status for age \\\u003C16 years; Karnofsky Performance Scale for age ≥16 years) ≥ 70\n6. Must sign informed consent\n\nExclusion Criteria:\n\n1. Receiving prednisone therapy for treatment of DBAS (this does not include patients receiving physiologic steroid replacement for adrenal insufficiency)\n2. Known history of myelodysplasia or presence of a hematopoietic clone\n3. Current malignancy or previous treatment for malignancy\n4. Pregnancy or breast-feeding mother\n5. Known history of severe iron overload as defined by a liver iron concentration (LIC) \\> 15 mg Fe\u002F g dry liver weight\n6. Significant cytopenias, defined as:\n\n   * Platelet count \\\u003C100,000\u002FmcL\n   * Absolute neutrophil count \\\u003C750\u002FmCL\n7. Any GCSF use in the 3 months prior to enrollment\n8. Liver dysfunction: aspartate aminotransferase (AST), alanine aminotransferase (ALT), or direct bilirubin values \\>3 x the upper limit of normal (ULN)\n9. Kidney dysfunction: baseline estimated glomerular filtration rate (GFR) \\\u003C70 mL\u002Fmin\u002F1.73 m2","3 Years","30 Years",{"count":168,"type":19},10,"Gene therapy is a new possible treatment for the anemia of DBAS. Gene therapy will soon be available for patients with RPS19-mutated DBAS. This involves inserting the corrected RPS19 gene into the cells, leading to correction of the anemia. The application of gene therapy requires sufficient numbers of stem cells on which the correction can be performed. Stem cells must be mobilized (stimulated to move) from the bone marrow to the peripheral blood and then collected (also called 'harvested'). It is not known if patients with DBAS can mobilize enough stem cells into the peripheral blood to allow for the harvesting of sufficient numbers to permit genetic manipulation. It is important to demonstrate the ability to harvest an adequate number of stem cells before gene therapy can be tried in patients with DBAS. The purpose of this study is to determine if mobilization of stem cells from the bone marrow in patients with DBAS is enough to obtain the numbers of peripheral blood stem cells necessary for effective gene therapy. An actual harvest will not be done.",[106],[106,172,173,174],"Mobilization","CD34+","GCSF","2026-04-23",{"date":177,"type":83},"2026-04-27",{"date":179,"type":19},"2026-06-01",{"date":181,"type":19},"2027-04-01",{"name":183,"class":90},"Northwell Health",{"id":185,"slug":186,"hasResults":11,"nctId":187,"briefTitle":188,"officialTitle":189,"acronym":4,"eligibilityCriteria":190,"healthyVolunteers":11,"sex":16,"minAge":100,"maxAge":166,"enrollmentInfo":191,"targetDuration":4,"studyType":193,"phases":194,"briefSummary":196,"conditions":197,"keywords":203,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":207,"lastUpdatePostDateStruct":208,"startDateStruct":210,"completionDateStruct":212,"leadSponsor":214,"locationsCount":91},"100370178","phase-2-allosct-for-malignant-and-non-malignant-hematologic-diseases-utilizing-alphabeta-t-cell-and-cd19-b-cell-depletion-100370178","NCT04099966","AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha\u002FBeta T Cell and CD19+ B Cell Depletion","Allogeneic Stem Cell Transplantation for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha\u002FBeta T Cell and CD19+ B Cell Depletion - NYMC 588","Inclusion Criteria:\n\n1. ALL:ALL high risk including one or more of the following: (t(9;22) or 11q23 chromosomal abnormality, primary induction failure (\\\u003C15% blasts at time of registration), mixed phenotype acute leukemia (MPAL), persistent MRD (\\\u003C0.01% by flow or persistent abnormal karyotype detected by cytogenetics) or hypodiploidy (44 chromosomes)) in first remission ' ALL in second remission and beyond;\n2. AML: History of AML induction\u002Freinduction Failure (\\\u003C15% blasts at time of registration); AML in CR1 with poor cytogenetics (i.e. 12p, 5a, -7, FLT3 mutation\u002Fduplication, t(9;11) and others); AML with persistent minimal residual disease (MRD) in CR1(\\\u003C0.01% on flow or persistent abnormal karyotype detected by cytogenetics); AML CR2 or beyond; AML in refractory relapse but ≤15% bone marrow leukemia blasts; Therapy-related AML\n3. High Risk Myelodysplastic syndrome (MDS) 4 Lymphoma: Hodgkin (HL) or Non-Hodgkin (NHL): HL or NHL in induction failure; HL or NHL in PR1 or PR2 ; HL or NHL in CR2 or subsequent remission\n\n5\\. Bone marrow failure syndromes: Kostmann syndrome refractory or intolerant to granulocyte colony-33stimulating factor; Diamond-Blackfan anemia refractory or intolerant to corticosteroids and\u002For cyclosporine'; amegakaryocytic thrombocytopenia 6. Sickle Cell Disease (Homozygous Hemoglobin S Disease, or Hemoglobin S β 0\u002F+ thalassemia, or Hemoglobin SC Disease) 7. age 0-30 years 8. adequate organ function\n\nExclusion Criteria:\n\n1. Females who are pregnant or breast-feeding are not eligible.\n2. Patients with documented uncontrolled infection at the time of study entry are not eligible.\n3. Karnofsky\u002FLansky (age appropriate) Performance Score \\\u003C60\n4. Demonstrated lack of compliance with medical care\n5. Patients who have received allogeneic HSCT within 6 months, unless being done as a boost.\n6. Patients with active \\\u003CGrade 2 GVHD.",{"count":192,"type":19},20,"INTERVENTIONAL",[195],"PHASE2","Children, adolescents, and young adults with malignant and non-malignant conditionsundergoing an allogeneic stem cell transplantation (AlloSCT) will have the stem cells selected utilizing α\u002Fβ CD3+\u002FCD19+ cell depletion. All other treatment is standard of care.",[23,198,199,44,200,106,201,141,202],"Severe Aplastic Anemia","Non-hodgkin Lymphoma","Kostmann","Amegakaryocytic Thrombocytopenia","Beta-Thalassemia",[204,205,206],"allogeneic stem cell transplantation","t-cell depletion","alpha beta cell depletion","2025-08-07",{"date":209,"type":83},"2025-08-08",{"date":211,"type":83},"2021-04-01",{"date":213,"type":19},"2027-12-31",{"name":215,"class":90},"Mitchell Cairo",{"id":217,"slug":218,"hasResults":11,"nctId":219,"briefTitle":220,"officialTitle":221,"acronym":4,"eligibilityCriteria":222,"healthyVolunteers":11,"sex":16,"minAge":223,"maxAge":224,"enrollmentInfo":225,"targetDuration":4,"studyType":193,"phases":227,"briefSummary":229,"conditions":230,"keywords":234,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":207,"lastUpdatePostDateStruct":245,"startDateStruct":247,"completionDateStruct":249,"leadSponsor":251,"locationsCount":91},"100335893","phase-1-t-cell-depleted-alternative-donor-bone-marrow-transplant-for-sickle-cell-disease-scd-and-other-anemias-100335893","NCT03653338","T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias","T-Cell Depleted, Alternative Donor Transplant in Pediatric and Adult Patients With Severe Sickle Cell Disease (SCD) and Other Transfusion-Dependent Anemias","Inclusion Criteria\n\n1. Patient, parent, or legal guardian must have given written informed consent and\u002For assent according to FDA guidelines.\n2. Ages 5 years to 40 years, at time of consent.\n3. Diagnosis of Sickle Cell Disease (Hemoglobin SS, Sβ0-thalassemia) complicated by any of the following:\n\n   * Recurrent acute painful episodes (also known as vaso-occlusive crises; VOC) despite supportive care, minimum of 2 new pain events per year requiring hospitalization for parenteral pain management in the previous 2 years.\n   * Recurrent acute chest syndrome (ACS) despite supportive care, minimum of 2 episodes in preceding 2-year period.\n   * Stroke or neurologic event lasting \\> 24 hours with an accompanying infarct on MRI in any patient for all ages; Brain MRI with silent infarct without clinical event in patients ≤ 16 years.\n   * Chronic transfusion therapy defined as \\> 8 packed red blood cell transfusions per year in the year prior to enrollment and\u002For evidence of red blood cell alloimmunization.\n   * Elevated transcranial Doppler velocities - \\> 200 cm\u002Fs, via the non-imaging technique or \\> 185 cm\u002Fs by the imaging technique measured on 2 separate occasions ≥ 1-month apart\n   * Elevated TRV \\> 2.6m\u002Fs in patients ≥ 16 years old.\n   * Sickle-related renal insufficiency and\u002For sickle hepatopathy and\u002For any irreversible end-organ damage in patients ≥ 16 years old.\n\n   OR Diagnosis of beta-thalassemia or Diamond-Blackfan anemia complicated by transfusion dependence with evidence of iron overload.\n4. A minimum donor match of 4\u002F8 via high resolution HLA typing at HLA-A, -B, -C, -DRB1 loci in the related setting or minimum donor match of 6\u002F8 via high resolution HLA typing at HLA-A, -B, -C, -DRB1 loci (with the DRB1 locus as a full match requirement). An unrelated donor and cord blood search must have been completed without an eligible 8\u002F8 matched unrelated donor or 6\u002F8 cord blood unit available. Patients who may have acceptable cord blood donor options (4\u002F6 or better) but are limited by cell dose of a single cord will also be eligible for the proposed study.\n5. Adequate function of other organ systems as measured by:\n\n   * Creatinine clearance or GFR ≥ 45 ml\u002Fmin\u002F1.73m.\n   * Hepatic transaminases (ALT\u002FAST) ≤ 3 x upper limit of normal.\n   * Liver MR imaging for iron content should be performed in all patients with Ferritin \\> 500 ng\u002FmL. If hepatic iron content \\> 10mg Fe\u002Fg liver should have hepatology consultation and liver biopsy to confirm absence of cirrhosis, fibrosis or hepatitis.\n   * Adequate cardiac function as measure by echocardiogram (shortening fraction \\> 26% or ejection fraction \\> 40% or \\>80% of age-specific normal).\n   * Pulmonary evaluation testing demonstrating FEV1\u002FFVC ≥ 60% of predicted for age and\u002For resting pulse oximeter ≥ 92% on room air.\n   * Cardiology clearance to proceed with conditioning regimen and HSCT.\n   * Pulmonology clearance to proceed with conditioning regimen and HSCT.\n6. Subjects must be human immunodeficiency virus (HIV) negative by PCR.\n7. Negative pregnancy test for females ≥10 years old or who have reached menarche, unless surgically sterilized.\n8. All females of childbearing potential and sexually active males must agree to use an FDA approved method of birth control for up to 24 months after BMT or for as long as they are taking any medication that may harm a pregnancy, an unborn child or may cause a birth defect.\n9. Subject and\u002For parent guardian will also be counseled regarding the potential risks of infertility following BMT and advised to discuss sperm banking or oocyte harvesting (Refer to section,\n10. Hydroxyurea must have been trialed and failed in patients with sickle cell disease.\n\nPatient Exclusion Criteria\n\n1. Patients with alternate, superior donor options (matched sibling donor or matched unrelated donor).\n2. Patients who have undergone stem cell transplantation in the 6 months prior to anticipated conditioning.\n3. Patients with history of a central nervous system (CNS) event within six months prior to start of conditioning (patient will be delayed until eligible).\n4. Patients who are pregnant or lactating\n5. Patients with uncontrolled bacterial, viral or fungal infection\n6. Past or current medical problems or findings from physical examination or laboratory testing that are not listed above, which, in the opinion of the investigator, may pose additional risks from participation in the study, may interfere with the participant's ability to comply with study requirements or that may impact the quality or interpretation of the data obtained from the study.","5 Years","40 Years",{"count":226,"type":19},5,[228,195],"PHASE1","The purpose of this study is to evaluate what effect, if any, mismatched unrelated volunteer donor and\u002For haploidentical related donor stem cell transplant may have on severe sickle cell disease and other transfusion dependent anemias. By using mismatched unrelated volunteer donor and\u002For haploidentical related donor stem cells, this study will increase the number of patients who can undergo a stem cell transplant for their specified disease. Additionally, using a T-cell depleted approach should reduce the incidence of graft-versus-host disease which would otherwise be increased in a mismatched transplant setting.",[231,232,233],"Sickle Cell Anemia","Beta-thalassemia Major","Diamond-blackfan Anemia",[235,236,237,238,239,240,241,242,243,244,205],"Sickle Cell","Diamond-Blackfan","Beta-thalassemia","Anemia","Stem cell transplantation","Unrelated Donor","haploidentical","hematopoietic stem cell transplant (HSCT)","bone marrow transplant (BMT)","mismatched",{"date":246,"type":83},"2025-08-12",{"date":248,"type":83},"2018-08-02",{"date":250,"type":19},"2027-08-01",{"name":252,"class":90},"Paul Szabolcs"]