[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"inherited-bone-marrow-failure-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:inherited-bone-marrow-failure-syndrome":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,47,74,108],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":30,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100523057","phase-1-imatinib-to-increase-runx1-activity-in-participants-with-germline-runx1-deficiency-100523057",false,"NCT06090669","Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency","Phase Ib Study of Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency","* INCLUSION CRITERIA- AFFECTED PARTICIPANTS ONLY\n* Affected participants must have a confirmed pathogenic or likely pathogenic germline RUNX1 variant by history. ClinGen expert variant curation panel criteria for pathogenicity will be utilized.\n* Affected participants must have a history of clinically significant bleeding as defined by history of abnormal ISTH-BAT score, use of anti-bleeding medications (e.g., amicar), history of platelet transfusion, abnormal PFA screen, abnormal TEG, abnormal platelet aggregation or abnormal platelet electron microscopy.\n* Bone marrow morphology, flow cytometry and cytogenetics confirmed by the NIH Department of Laboratory Medicine (DLM) at least within 12 months of initiating imatinib.\n* TSO500 performed by NCI Lab of Pathology within 12 months of initiating imatinib.\n* Substantial GI malabsorption is not suspected.\n* Participants with human immunodeficiency virus (HIV) on effective anti-retroviral therapy with undetectable viral load within 6 months are eligible for this trial if their HAART medications do not interact with imatinib.\n* Participants with evidence of chronic hepatitis B virus (HBV) infection, on suppressive therapy with undetectable HBV viral load are eligible for this trial. Suppressive therapy medication may not interact with imatinib.\n* Participants with a distant history of hepatitis C virus (HCV) infection must have been treated and cured. Participants with active HCV infection who are currently on treatment, with undetectable HCV viral load are eligible. If unknown HCV is detected upon screening- these participants will not be eligible for the study.\n\nINCLUSION CRITERIA- UNAFFECTED PARTICIPANTS ONLY\n\n* Unaffected family members or healthy volunteers without RUNX1 mutation by pedigree or molecular testing Only participants who are related to the proband need to provide a molecular test.\n* The last dosage of any platelet inhibiting medications was at least 2 weeks prior to enrollment and research sample acquisition.\n\nINCLUSION CRITERIA- ALL PARTICIPANTS\n\n* Age \\>=18 years.\n* ECOG performance status \\\u003C=2 (Karnofsky \\>=60%).\n* Participants must have adequate organ and marrow function as defined below:\n\n  * leukocytes \\>= 3,000\u002FmcL\n  * absolute neutrophil count \\>= 1,500\u002FmcL\n  * platelets \\>= 50,000\u002FmcL (without transfusion support)\n  * total bilirubin within normal institutional limits or \\\u003C= 3 X the institutional upper limit of normal for participants with Gilbert s syndrome\n  * AST(SGOT)\u002FALT(SGPT) \\\u003C= 2.5 X institutional upper limit of normal\n  * creatinine within normal institutional limits OR creatinine clearance \\>= 60 mL\u002Fmin\u002F1.73 m\\^2 for participants with creatinine levels above institutional normal.\n\n    * NIDDK CKD-EPI equation GFR = 141 x min (Scr \u002Fkappa, 1)\\^alpha x max(Scr \u002Fkappa, 1)\\^-1.209 x 0.993\\^Age x 1.018 \\[if female\\] x 1.159 \\[if black\\] where: Scr is serum creatinine in mg\u002FdL, kappa is 0.7 for females and 0.9 for males, alpha is -0.329 for females and -0.411 for males, min indicates the minimum of Scr \u002Fkappa or 1, and max indicates the maximum of Scr \u002Fkappa or 1.\n    * Note: GFR is expressed in mL\u002Fmin per 1.73 m\\^2, Scr is serum creatinine expressed in mg\u002FdL, age is expressed in years, kappa is 0.7 for females and 0.9 for males, alpha is -0.329 for females and -0.411 for males, min indicates the minimum of Scr \u002Fkappa or 1, and max indicates the maximum of Scr \u002Fkappa or 1. Race is self-identified.\n* Women of child-bearing potential and men must agree to use effective contraception (hormonal or barrier method of birth control; abstinence) prior to study entry and for 30 days after the last administration of study drug.\n* Breastfeeding participants must be willing to discontinue breastfeeding from study treatment initiation through 30 days after the last administration of study drug\n* Ability of participant to understand and the willingness to sign a written informed consent document.\n\nEXCLUSION CRITERIA- ALL PARTICIPANTS\n\n* Participants who are receiving any other investigational agents.\n* Participants who received prior hematologic malignancy directed therapy\n* Participants receiving medication that would affect platelet number or function (e.g., aspirin and anti-platelet medications\n* Participants without access to medical care at home.\n* Pregnancy (confirmed with beta-HCG serum or urine pregnancy test performed in females of childbearing potential at screening).\n\nEXCLUSION CRITERIA- AFFECTED PARTICIPANTS ONLY\n\n* Participants with the following pathogenic\u002Flikely pathogenic abl mutations on baseline Illumina TSO500 testing of any detectable VAF within 12 months of receiving the first dose of imatinib\n\n  --Abl mutations resistant to imatinib (T315I, F317L\u002FV\u002FC, T315A, V299L, Y253H, E255V\u002FK, F359V\u002FI\u002FC)\n* History of allergic reactions attributed to compounds of similar chemical or biologic composition to imatinib or other agents used in study.\n* Concomitant medications that include the following:\n\n  --Participants requiring medications which are inhibitors or inducers of CYP3A4 metabolism, as these may change imatinib plasma levels.\n* Uncontrolled intercurrent illness evaluated by history, physical exam, and chemistries or situations that would limit compliance with study requirements, interpretation of results or that could increase risk to the participant\n* Participants with the following cardiac conditions: symptomatic congestive heart failure, unstable angina pectoris, cardiac arrhythmia.",true,"ALL","18 Years","120 Years",{"count":21,"type":22},75,"ESTIMATED","INTERVENTIONAL",[25],"PHASE1","Background:\n\nRunt-related transcription factor 1 (RUNX1) gene regulates the formation of blood cells. People with mutations of this gene may bleed or bruise easily; they are also at higher risk of getting cancers of the blood, bone marrow, and lymph nodes.\n\nObjective:\n\nThe purpose of the study includes determining which dose of imatinib is best for people with pathogenic or likely pathogenic RUNX1 mutations without blood cancers, and to determine whether there are any changes in platelet function and inflammatory markers.\n\nEligibility:\n\nAdults aged 18 and older with RUNX1 mutations. Healthy people without this mutation, including family members of affected participants, are also needed.\n\nDesign:\n\nParticipants with the RUNX1 mutation will be screened. They will have a physical exam with blood tests. They will have a test of their heart function. They may need a new bone marrow biopsy if they haven't had one in the past year.\n\nImatinib is a tablet taken by mouth once a day, every day, at home. Affected participants in different parts of the study will take imatinib for either 28 days or up to 84 days. They will fill out questionnaires about how they are feeling.\n\nFor the first part of the study, participants will have blood tests every 2 weeks, either at home or at the NIH, while they are taking the imatinib. They will have a follow up visit, at home or at the NIH, when they are done taking imatinib on Day 28.\n\nParticipants on the second part of the study will come to NIH on days 1 and days 84. They will have blood tests every 2 weeks (at home or the NIH) while they are taking imatinib. They may opt to have a bone marrow biopsy repeated after they finish their course of imatinib.\n\nParticipants will have a follow-up visit (at home or the NIH) 30 days after they stop taking imatinib.\n\nParticipants who do not have the RUNX1 mutation will have 1 clinic visit. They will have blood tests. They will fill out questionnaires. They may opt to have a bone marrow biopsy.",[28,29],"Inherited Bone Marrow Failure Syndrome","Familial Platelet Disorder With Predisposition to Myeloid Malignancies",[31,32,33],"predisposition to hematologic malignancies","germline mutations","IBMFS","RECRUITING","2026-07-01",{"date":37,"type":38},"2026-07-02","ACTUAL",{"date":40,"type":38},"2023-12-19",{"date":42,"type":22},"2027-10-30",{"name":44,"class":45},"National Cancer Institute (NCI)","NIH",1,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":51,"acronym":4,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":17,"minAge":53,"maxAge":54,"enrollmentInfo":55,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":58,"conditions":59,"keywords":61,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":66,"lastUpdatePostDateStruct":67,"startDateStruct":69,"completionDateStruct":71,"leadSponsor":73,"locationsCount":46},"100492054","defining-the-natural-history-of-squamous-cell-carcinoma-in-fanconi-anemia-100492054","NCT05687149","Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia","* INCLUSION CRITERIA:\n\n  1. On referral, persons \\>= 12 years with FA primarily from North America will be included. An individual with FA who is 8 - 11 years can also be included if they have a history of persistent OPMLs, dysphagia, or other concerning symptoms.\n  2. Individuals with prior cancer diagnosis are eligible.\n  3. Individuals from other countries are eligible provided they can travel to the USA on their own.\n  4. Ability to understand and\u002For the willingness of the individual, parent, LAR, or minor s legal guardian to provide informed consent.\n\nEXCLUSION CRITERIA:\n\n1. Referred individuals for whom reported diagnosis of FA cannot be verified.\n2. Inability of the individual, parent, LAR, or legal guardian to understand and be willing to sign a written informed consent document.","8 Years","90 Years",{"count":56,"type":22},200,"OBSERVATIONAL","Background:\n\nFanconi anemia (FA) is an inherited disorder. People with FA are more likely to get certain cancers, especially squamous cell carcinoma (SCC). These cancers usually appear first in the mouth, esophagus, and genital and anal areas. Early detection of SCCs may help improve survival rates for people with FA.\n\nObjective:\n\nThis natural history study will regularly screen people with FA for SCC.\n\nEligibility:\n\nPeople aged 12 years and older with FA or a prior cancer diagnosis. Children aged 8 to 11 years with FA may also be eligible.\n\nDesign:\n\nParticipants will receive a comprehensive screening for cancer or early signs of cancer.\n\nParticipants will have a physical exam. They will provide blood and saliva samples. Cells will be collected by rubbing a swab on the inside of the cheeks. A skin sample may be removed from the back, buttocks, or inside of the upper arm.\n\nParticipants will have pictures taken of their mouth. Any mouth sores will be mapped. Cells will be collected from the sores with a small brush.\n\nSpecialists will examine the participant s ears, nose, throat, teeth, and skin.\n\nAdult participants may have a gastrointestinal exam or pelvic exam. Participants may have an endoscopy. A long tube with a camera and a light will be inserted through the mouth and down into the stomach.\n\nParticipants may have a liver ultrasound. A wand will be pressed against their belly to get pictures of the organs inside the body.\n\nParticipants will have screenings every year for up to 10 years. Each visit will last up to 3 days. They will have remote follow-up visits every 6 - 8 months....",[60,28],"Fanconi Anemia",[62,28,63,64,65],"Hereditary","Oral Potentially Malignant Lesion","Surveillance","Precancer","2026-06-11",{"date":68,"type":38},"2026-06-12",{"date":70,"type":38},"2023-03-23",{"date":72,"type":22},"2035-12-31",{"name":44,"class":45},{"id":75,"slug":76,"hasResults":11,"nctId":77,"briefTitle":78,"officialTitle":78,"acronym":79,"eligibilityCriteria":80,"healthyVolunteers":11,"sex":17,"minAge":81,"maxAge":82,"enrollmentInfo":83,"targetDuration":4,"studyType":23,"phases":85,"briefSummary":87,"conditions":88,"keywords":95,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":97,"lastUpdatePostDateStruct":98,"startDateStruct":100,"completionDateStruct":102,"leadSponsor":104,"locationsCount":107},"100500462","phase-2-a-pilot-study-to-evaluate-the-feasibility-of-post-hematopoietic-stem-cell-transplant-prophylaxis-with-decitabine-combined-with-filgrastim-for-children-and-young-adults-with-aml-mds-and-related-myeloid-malignancies-100500462","NCT05796570","A Pilot Study to Evaluate the Feasibility of Post-Hematopoietic Stem Cell Transplant Prophylaxis With Decitabine Combined With Filgrastim for Children and Young Adults With AML, MDS and Related Myeloid Malignancies","MORE","Inclusion Criteria:\n\n* Disease Criteria: Participants must have a histologically confirmed diagnosis of one of the following hematologic malignancies for eligibility, as defined by the criteria below:\n\n  * AML (relapsed, de-novo or secondary) based on WHO classification\n  * MDS (relapsed, de-novo or secondary) based on WHO classification\n  * Treatment myeloid neoplasm (tMDS\u002FAML; relapsed disease included)\n  * Myeloid Sarcoma\n  * Acute Undifferentiated Leukemia (MPAL and acute leukemia of ambiguous lineage\u002FNOS not eligible)\n* Note: MDS, AML, MDS\u002FAML, or tMDS\u002FAML as defined above may be idiopathic\u002Fde novo or derived from a germline predisposition to myeloid malignancy. For patients with an underlying germline disorder, those conditions that are not associated with increased risk for toxicity to treatment, including patients with known germline ANKRD26, DDX41, ELANE and other congenital neutropenia disorders, ETV6, GATA-2, Li-Fraumeni, RUNX1, SAMD9\u002FSAMD9L, or Shwachman-Diamond Syndrome, will be analyzed within the general treatment cohort (Cohort A, see Table 1) along with patients with idiopathic disease (Cohort B, see Table 2).\n\nMDS, AML, MDS\u002FAML, or tMDS\u002FAML derived from the following germline disorders will be enrolled in a separate cohort (B) and adverse events monitored closely for higher rates compared to cohort A:\n\n* Dyskeratosis Congenita or associated telomeropathies as defined by telomere length \\\u003C1st percentile on 3 out of 4 lymphocyte subsets and\u002For corresponding pathogenic genetic mutation.\n* Fanconi Anemia as defined by positive chromosomal breakage test to DEB\u002FMMC and\u002For corresponding pathogenic genetic mutation.\n* Nijmegen Breakage Syndrome as defined by positive chromosomal breakage test to DEB\u002FMMC and\u002For corresponding pathogenic genetic mutation\n* ERCC6L2 by genomic testing.\n\nTable 2: Overview Inherited Bone Marrow Failure syndromes (iBMF)\n\n-iBMF with Standard risk for Treatment Related toxicities:\n\n* germline mutations in ANKRD26\n* germline mutations in DDX41\n* ELANE and other Congenital Neutropenia Disorders\n* germline mutations in ETV6\n* germline mutations in GATA-2\n* Li-Fraumeni\n* germline mutations in RUNX1\n* SAMD9\u002FSAMD9L\n* Shwachman-Diamond Syndrome\n* Familial MDS with thrombocytopenia\n* Diamond-Blackfan Anemia\n\nTable 2: Overview Inherited Bone Marrow Failure syndromes (iBMF)\n\n* iBMF with Increased Risk for Treatment Related Toxicities:\n\n  * Fanconi Anemia\n  * Dyskeratosis Congenita and associated Telomere Disorders\n  * Nijmegen Breakage Syndrome\n  * ERCC6L2\n* Patients must be receiving an allogeneic hematopoietic stem cell transplant. All donor types and graft sources are permitted. All conditioning regimens are permitted. All GVHD prophylaxis regimens are permitted.\n* Timing of Enrollment: Registration can occur from day - 40 to day - 1 prior to stem cell infusion.\n* Disease Status: Study enrollment will occur pre HCT. Any disease status is acceptable at the time of enrollment; however, patients must be in a MRD negative remission (as defined by multidimensional flow cytometry (MDF) post HCT prior to protocol treatment start). Post HCT\u002F pretreatment disease status will be performed by Hematologics.\n* No limitations on prior therapy.\n* Age ≥1 year and ≤ 39 year of age.\n* ECOG performance status ≤2 (Lansky, Karnofsky ≥60%).\n* Participants must have adequate organ function to be eligible for allogenic HCT as per institutional standard.\n* Human immunodeficiency virus (HIV)-infected participants on effective anti-retroviral therapy with undetectable viral load within 6 months are eligible for this trial. Anti- retroviral therapy must not have a non-acceptable drug interaction with protocol treatment.\n* For participants with evidence of chronic hepatitis B virus (HBV) infection, the HBV viral load must be undetectable on suppressive therapy, if indicated. Suppressive therapy must not have a non-acceptable drug interaction with protocol treatment.\n* Participants with a history of hepatitis C virus (HCV) infection must have been treated and cured. For participants with HCV infection who are currently on treatment, they are eligible if they have an undetectable HCV viral load. Ongoing antiviral therapy must not have a non-acceptable drug interaction with protocol treatment.\n* Participants with a malignancy in remission are eligible for this trial.\n* Participants with known history or current symptoms of cardiac disease should have a clinical risk assessment of cardiac function using the New York Heart Association Functional Classification. To be eligible for this trial, participants should be class 2B or better.\n* The effects of filgrastim on the developing human fetus are unknown. For this reason and because decitabine is known to be teratogenic, women of child-bearing potential and men must agree to use adequate contraception (hormonal or barrier method of birth control; abstinence) prior to study entry and for the duration of study participation. Should a woman become pregnant or suspect she is pregnant while she or her partner is participating in this study, she should inform her treating physician immediately. Men treated or enrolled on this protocol must also agree to use adequate contraception prior to the study, for the duration of study participation, and 4 months after completion of decitabine administration.\n* Ability to understand and the willingness to sign a written informed consent document.\n\nExclusion Criteria:\n\n* Participants who have not recovered from adverse events due to prior anti-cancer therapy (i.e., have residual toxicities \\> Grade 2) except for bone marrow suppression.\n* Participants should not be enrolled on another study that prohibits initiation of maintenance therapy.\n* History of allergic reactions attributed to compounds of similar chemical or biologic composition to decitabine or filgrastim.\n* Participants with uncontrolled intercurrent illness.\n* Participant who are not able to present for clinic visits for at least 7 months after study treatment initiation.\n* Participant with FLT3\u002FITD mutations are excluded as maintenance therapy with tyrosine kinase therapy should be considered in this context. However, if a participant has a co-occurring NUP28 mutation, they will be considered eligible.\n* Participants with a concurrent active malignancy are not eligible for this trial.","1 Year","39 Years",{"count":84,"type":22},37,[86],"PHASE2","The purpose of this study is to examine if it is feasible to administer decitabine and filgrastim after allogenic hematopoietic stem cell transplant (HCT) in children and young adults with myelodysplastic syndrome, acute myeloid leukemia and related myeloid disorders, and if the treatment is effective in preventing relapse after HCT.\n\nThe names of the study drugs involved in this study are:\n\n* Decitabine (a nucleoside metabolic inhibitor)\n* Filgrastim (a recombinant granulocyte colony-stimulating factor (G-CSF)",[89,90,91,92,28,93,94],"Acute Myeloid Leukemia","Myelodysplastic Syndromes","Myeloid Malignancies","MDS","Myeloid Neoplasm","Aml",[89,90,91,92,28,93,96],"AML","2026-03-17",{"date":99,"type":38},"2026-03-19",{"date":101,"type":38},"2023-04-19",{"date":103,"type":22},"2029-09-01",{"name":105,"class":106},"Franziska Wachter","OTHER",2,{"id":109,"slug":110,"hasResults":11,"nctId":111,"briefTitle":112,"officialTitle":112,"acronym":4,"eligibilityCriteria":113,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":114,"targetDuration":4,"studyType":23,"phases":116,"briefSummary":118,"conditions":119,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":132,"lastUpdatePostDateStruct":133,"startDateStruct":135,"completionDateStruct":137,"leadSponsor":139,"locationsCount":141},"100282586","pre-myeloid-cancer-and-bone-marrow-failure-clinic-study-100282586","NCT02958462","Pre-myeloid Cancer and Bone Marrow Failure Clinic Study","Inclusion Criteria:\n\n* Patients with idiopathic cytopenias of unclear significance (ICUS)\n* Patients with clonal hematopoiesis of indeterminate significance (clonal hematopoiesis of indeterminate potential \\[CHIP\\]), including the recently described CHIP syndrome called VEXAS (vacuoles, E1 ubiquitin ligase, X chromosomal, autoimmune and somatic)\n* Patients with clonal cytopenias of undetermined significance (CCUS)\n* Marrow failure syndromes with myeloid malignancy predisposition - telomere dysfunction, chromosomal breakage disorders\n* Germ line inherited syndromes with risk for malignant transformation - GATA2, CEBPA, ETV-6, RUNX1, JAK2, PF6, etc.\n* Low risk MDS (idiopathic dysplasia of unclear significance)\n* Family member of a patient with one of the above conditions\n* Patient at high risk or suspected of developing one of the above conditions\n\nExclusion Criteria:\n\n* Patients under 18 years of age",{"count":115,"type":22},2000,[117],"NA","This clinical trial tests next generation sequencing (NGS) for the detection of precursor features of pre-myeloid cancers and bone marrow failure syndromes. NGS is a procedure that looks at relevant cancer associated genes and what they do. Finding genetic markers for pre-malignant conditions may help identify patients who are at risk of pre-myeloid cancers and bone marrow failure syndromes and lead to earlier intervention.",[120,28,121,122,123,124,125,126,127,128,129,130,131],"Myeloid Malignancy","Clonal Expansion","Cytopenia","Bone Marrow Failure Syndrome","Clonal Cytopenia of Undetermined Significance","Clonal Hematopoiesis of Indeterminate Potential","Hematologic Neoplasms","Hematopoietic and Lymphatic System Neoplasm","Hereditary Neoplastic Syndrome","Idiopathic Cytopenia of Undetermined Significance","Idiopathic Dysplasia of Uncertain Significance","Low Risk Myelodysplastic Syndrome","2026-02-20",{"date":134,"type":38},"2026-02-23",{"date":136,"type":38},"2017-01-16",{"date":138,"type":22},"2035-09-15",{"name":140,"class":106},"Mayo Clinic",3]