[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"fanconi-anemia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:fanconi-anemia":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,19,0,[8,43,76,88,107,118,147,221,257,282,307,340,363,384,411,435,465,498,521],{"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":4,"briefSummary":23,"conditions":24,"keywords":26,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100053552","experience-and-management-of-cancer-screening-related-anxiety-in-fanconi-anemia-100053552",false,"NCT06744283","Experience and Management of Cancer Screening-Related Anxiety in Fanconi Anemia","The Experience and Management of Cancer Screening-Related Anxiety in Fanconi Anemia: an Ethnographic Study","* INCLUSION CRITERIA:\n\nParticipants enrolled in the FACSS protocol who are 18 years of age or older are eligible for inclusion in this study. Clinical visits eligible for ethnographic observation are limited to initial visits (medical history and physical examination) and\u002For return of results visits happening in the context of their first visit to the NIH Clinical Center for the FACSS protocol and\u002For annual return visits.\n\nTo be eligible, the following requirements must be met:\n\n* Ability for the participant to speak, read, and\u002For write in English to understand and agree to a verbal consent.\n* Participants must have a diagnosis of FA.\n* Participants must be 18 years of age or older.\n\nEXCLUSION CRITERIA:\n\n* Individuals who do not meet eligibility criteria.\n* Subjects who declined or opted out of allowing their data to be used for future research.\n* Subjects who orally declined to have Dr. Emily Pearce shadow their clinical center visits.\n* No other exclusionary criteria apply.","ALL","18 Years","100 Years",{"count":20,"type":21},20,"ESTIMATED","OBSERVATIONAL","Background:\n\nFanconi anemia (FA) is a rare, inherited cancer syndrome. FA causes a range of physical issues. Children with FA may have abnormal features; these may include a small head and eyes and issues with their internal organs. Young adults have a much higher risk of cancer. To screen for these cancers, people with FA may need to pursue many visits with different doctors. This constant need for cancer screening may cause anxiety for people with FA.\n\nObjective:\n\nTo learn more about anxiety related to cancer screenings in people with FA.\n\nEligibility:\n\nAdults aged 18 years and older with FA. They must also be enrolled in FACSS. FACSS is a study that screens people with FA for cancer every year.\n\nDesign:\n\nAll data gathered for this study will occur during routine FACSS visits. No other visits are needed.\n\nAn observer will be in the room during participants FACSS visits. The observer and participant will have a polite introduction. After that, the observer will not interact with participants in any way.\n\nThe observer will note details about the participants, such as:\n\n* Body language.\n* Worries about screening.\n* Comments that suggest anxiety or depression.\n* Clinical environment, such as d(SqrRoot)(Copyright)cor and temperature.\n* Accessibility issues. These can include lights and noises as well as ease of traveling around the clinic center.\n* Evidence of social support, such as engaging in the FA community.\n* Challenges they ve had in FACSS.\n* Their motivation to participate in FACSS.\n* Relationship dynamics among clinic staff, participants, and their care partners.\n\nData will also be collected from FACSS visit notes dating back to December 2024 and from participants medical records.",[25],"Fanconi Anemia",[27,25,28,29],"Uncertainty","Cancer","Screening","RECRUITING","2026-07-10",{"date":33,"type":34},"2026-07-13","ACTUAL",{"date":36,"type":21},"2026-07-16",{"date":38,"type":21},"2027-01-30",{"name":40,"class":41},"National Cancer Institute (NCI)","NIH",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":48,"acronym":4,"eligibilityCriteria":49,"healthyVolunteers":11,"sex":16,"minAge":50,"maxAge":51,"enrollmentInfo":52,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":54,"conditions":55,"keywords":65,"overallStatus":70,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":71,"startDateStruct":72,"completionDateStruct":73,"leadSponsor":75,"locationsCount":42},"100054169","clinical-genetics-branch-eligibility-screening-survey-100054169","NCT07005297","Clinical Genetics Branch Eligibility Screening Survey","Clinical Genetics Branch (CGB) Eligibility Screening Survey","* INCLUSION CRITERIA\n\nThere is no age restriction; therefore, viable neonates may be included. This eligibility screening protocol is intended for individuals meeting one or more of the following criteria:\n\n1. Personal or family history of a diagnosis of a syndrome being actively investigated in one of the following CGB study protocol:\n\n   * Protocol 000678: Medical history of neoplasia of an unusual type, pattern, or number.\n   * Protocol 11C0255: A personal history of adrenal cortical carcinoma or choroid plexus carcinoma at any age, regardless of family history, or family or personal medical history of neoplasia consistent with the diagnosis of LFS or LFL.\n   * Protocol 20C0107: Individuals with a clinical diagnosis of a RASopathy, including Costello syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines, Cardiofaciocutaneous syndrome, Legius syndrome, capillary arteriovenous malformation syndrome, or others, are eligible. Published clinical diagnostic criteria exist for most of the clinical RASopathy syndromes and differ by syndrome. It will be uncommon for individuals to have a clinical diagnosis and not have had molecular genetic testing. All individuals considered by the study team to be at risk for a RASopathy who have not had prior genetic testing will have this completed as part of the study. The rare individuals with a clinical diagnosis of a RASopathy who are not found to carry a corresponding pathogenic or likely pathogenic variant in a known RASopathy gene will be considered for exome analysis for identification of potentially novel RASopathy germline variation.\n   * Protocol 11C0034: An individual with histologically-confirmed PPB and\u002For other DICER1-related tumors\n   * Protocol 02C0052: The 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   * Protocol 02C0211: Personal medical history of melanoma of an unusual type, pattern, or number diagnosed at any age.\n   * Protocol 78C0039: Family or personal medical history of neoplasia of an unusual type, pattern, or number\n2. Personal or family history of medical condition, malignancy, and\u002For benign neoplasm suggestive of hereditary cancer predisposition being actively investigated in the following CGB study protocol:\n\n   * Protocol 000678: Known or suspected factor(s) predisposing to neoplasia, either genetic and\u002For congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation, diet, infectious agents, etc.), or unusual demographic features (very young age of onset, multiple tumors, etc.)\n   * Protocol 11C0255: An individual with a sarcoma diagnosed under the age of 45; AND - At least one first-degree relative (parents, brothers, sisters and children) with a cancer of any kind diagnosed under the age of 45; AND - A third family member who is either a first- or second-degree relative (such as grandparents, aunts, uncles, nieces, nephews, and grandchildren) with cancer diagnosed under the age of 45 or having a sarcoma at any age.\n   * Protocol 001109: On referral, persons \\>= 12 years with Fanconi Anemia (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 oral potentially malignant lesion (OPMLs), dysphagia, or other concerning symptoms. Individuals with prior cancer diagnosis are eligible.\n   * Protocol 11C0034: An individual from the general population with one or more of the unique tumors of the types associated with DICER1 including (but not exclusively), PPB, cystic nephroma, ovarian Sertoli-Leydig cell and other sex cordstromal tumors, ocular medulloepithelioma, nasal chondromesenchymal hamartoma, Wilms tumor, embryonal rhabdomyosarcoma, pineoblastoma, pituitary blastoma, ovarian sarcoma, CNS sarcoma and\u002For thyroid cancer - regardless of their family history. Additional DICER1-related neoplasms may be identified in the future, and they will be added to the protocol as needed\n   * Protocol 02C0052: Fanconi anemia: FA patients have relatively specific birth defects, aplastic anemia, increased chromosome breakage in cells cultured with a DNA crosslinking agent such as mitomycin C (MMC) or diepoxybutane (DEB), pathogenic variant(s) in one of the cloned genes (six genes at this time), or assignment to one of the 7 or more complementation groups. Bone marrow failure is NOT required for the diagnosis, and approximately 25% do not have birth defects. FA has been diagnosed from birth to \\>50 years of age. FA Proven = positive chromosome breakage result, and\u002For pathogenic variant(s) in a known FANC gene. Patients in whom FA is suspected but whose chromosome breakage test is negative will still be considered if they have sufficient findings that lead the Principal Investigator to think they may be somatic mosaics and warrant further evaluation. Diamond Blackfan anemia: DBA patients have pure red cell aplasia with reticulocytopenia. Approximately 30% have physical abnormalities, often involving malformations of the thumbs. Approximately 90% are diagnosed within the first year of life. A pathogenic variant in a known DBA gene (RPS19 is currently the only known gene) is diagnostic, but lack of a pathogenic variant does not rule out DBA, since the cloned gene is responsible for only approximately 25% of the disease. Since many cases are sporadic or occur in families with silent carriers, patients without a positive family history will be included. Currently DBA is diagnosed by clinical findings after exclusion of known causes of red cell aplasia. Approximately 90% have elevated red cell adenosine deaminase levels, a finding which is supportive, but not diagnostic, of DBA. Dyskeratosis congenita: DC patients develop dyskeratotic nails, lacy hyperpigmentation of the skin and mucous membrane leukoplakia as they age (the diagnostic clinical triad; two of the three are required for a firm diagnosis). Findings in young patients may be very subtle, and diagnoses are usually made in teenagers or young adults. More than 75% are male. DC patients are often diagnosed without hematologic abnormalities by dermatologists; however, some patients present with aplastic anemia prior to the evolution of the syndrome-related physical features. A pathogenic variant in the DKC1 gene is diagnostic, but normal DKC1 does not exclude DC. The diagnosis is often clinical, after exclusion of FA and other IBMFS. Shwachman Diamond Syndrome: SDS patients have neutropenia, malabsorption and failure to thrive due to exocrine pancreatic insufficiency. The gene has not yet been cloned. Pancreatic insufficiency is documented by direct measurement of pancreatic enzymes, low serum immunoreactive trypsinogen, or elevated fecal fat levels. Neutropenia requires an absolute neutrophil count of \\\u003C1500\u002Fmm3 on multiple occasions. Other causes of malabsorption such as cystic fibrosis, Pearson syndrome, and Johansson-Blizzard syndrome must be excluded. Cystic fibrosis will be excluded in patients who have a positive sweat test performed at an approved CF center. Amegakaryocytic thrombocytopenia: These patients have early onset thrombocytopenia (\\\u003C150,000\u002Fmm3), usually within the first year of life, due to absent, diminished, or abnormal bone marrow megakaryocytes, without antiplatelet antibodies. Physical examination is often normal; in particular, there are no abnormalities of the radial rays. Pathogenic variant(s) in the MPL gene are diagnostic, but normal MPL does not exclude this diagnosis. Thrombocytopenia absent radii: TAR patients have absent radii, usually bilateral, with intact thumbs (in contrast with FA and trisomy 18, where thumbs are absent if radii are absent), and thrombocytopenia at birth. Other radial aplasia syndromes such as Holt-Oram syndrome or VATER syndrome must be excluded. Severe Congenital Neutropenia: Patients with SCN have persistent and noncyclic low absolute neutrophil counts, with more than 2 measurements \\\u003C200\u002Fmm3, and a history of pyogenic infections during the first year of life, and bone marrow maturation arrest at the promyelocyte\u002Fmyelocyte stage. They do not have birth defects, and they usually have normal hemoglobin and platelet counts. They are designated Kostmann Syndrome (KS) only if there is a pattern of autosomal recessive inheritance. Pathogenic variant(s) in the neutrophil elastase gene (ELA2) are supportive of the diagnosis of SCN, but do not distinguish SCN patients from those with cyclic neutropenia, which is milder and not preleukemic. Many of the cases of SCN have been shown to be due to dominant pathogenic variant(s)s in ELA2. Pearson Syndrome: Pearson syndrome consists of malabsorption, neutropenia, alone or with anemia and\u002For thrombocytopenia, and metabolic acidosis. Onset is in infancy or early childhood. The diagnosis is strongly suspected if bone marrow examination reveals vacuoles in myeloid and erythroid progenitors, and ring sideroblasts. Confirmation derives from detection of deletions in mitochondrial DNA, which range from 2 to 8 kb in size, and include the respiratory enzymes. Absence of reports to date of cancer or leukemia in this syndrome may derive from early death due to the metabolic problems. Other bone marrow failure syndromes: There are occasional patients with a pattern of hematologic abnormalities, physical findings, malignancies, or family histories which are not characteristic of the syndromes described above, but which nonetheless suggests that they have a genetic bone marrow failure syndrome. There may be similar cases in the literature, or in the experience of the investigator, which may ultimately lead to assignment of these patients to a known or new syndrome. There are additional bone marrow failure syndromes which are even more rare, such as Revesz, WT, IVIC, radio-ulnar synostosis, ataxia-pancytopenia, etc. Syndromic classification of extremely rare disorders is facilitated if they are collected in one center. Since malignancy is often part of these syndromes, they will be eligible for enrollment in this protocol.\n   * Protocol 02C0211: Known or suspected factor(s) predisposing to melanoma, either genetic or congenital factors (giant congenital nevi, dysplastic nevi, Spitzoid tumors), or unusual demographic features (e.g., very young age of onset, multiple melanomas, previous history of heritable retinoblastoma, Hodgkin's disease, lymphoma, immunodeficiency syndrome, or organ transplant).\n   * Protocol 10CN188: Diagnose with chordoma or related tumor at any age and any primary site.\n   * Protocol 78C0039: Known or suspected factor(s) predisposing to neoplasia, either genetic and\u002For congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation, diet, infectious agents, etc.), or unusual demographic features (very young age of onset, multiple tumors, etc.). Personal and family medical history must be verified through questionnaires, interviews, and review of pathology slides and medical records. For familial neoplasms, two or more living affected cases among family members are required. The types of familial tumors that we are currently actively accruing include Familial Cancers: bladder, brain, chordoma, lung, nevoid basal cell carcinoma syndrome (NBCC) Familial Benign Neoplasms: meningiomas, neurofibromatosis 2 (bilateral acoustic neurofibromatosis) The types of familial tumors under active accrual and study are predominantly investigator- and hypothesis-driven. This approach permits CGB investigators to remain alert to the opportunities afforded by clusters of rare tumors in families and individuals, and to be more responsive to the dynamic research priorities in cancer genetics.\n3. Personal or family history of a genetic variant in a hereditary cancer predisposition being actively investigated in the following CGB study protocols:\n\n   * Protocol 11C0255: A personal history of a germline TP53 mutation; or, - A first or second- degree relative of a TP53 mutation carrier, regardless of mutation status\n   * Protocol 20C0107: Individuals with a germline variant (P\u002FLP or a variant of uncertain significance but predicted bioinformatically to be damaging) in a RASopathy-associated gene are eligible. These include but are not limited to: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1. From herein, we refer to 1) individuals with germline pathogenic variation in a RAS pathway gene AND 2) individuals with a clinical RASopathy diagnosis but in whom a genetic variant has not yet been identified as \"carriers.\" The first member of a family to be identified is termed a \"proband.\"\n   * Protocol 11C0034: An individual with a known or suspected DICER1 disease associated variant.\n   * Protocol 02C0052: An individual with a pathogenic variant(s) in a known FANC gene. Individual with Diamond Blackfan Anemia with a pathogenic variant in a known DBA gene (RPS19). Individuals with Dyskeratosis congenita with a pathogenic variant in the DKC1 gene. Individuals with Amegakaryocytic thrombocytopenia with pathogenic variants) in the MPL gene. Individuals with Severe Congenital Neutropenia with a pathogenic variant(s) in the neutrophil elastase gene (ELA2).\n\nEXCLUSION CRITERIA\n\nWhile this protocol is intended to be used by those meeting the inclusion criteria above, there are no explicit exclusion criteria for this study, since the initiative to complete the eligibility screener survey is at the will of the participant or his or her parent\u002Fguardian\u002FLAR.","1 Year","99 Years",{"count":53,"type":21},1000,"Background:\n\nClinical Genetics Branch (CGB) researchers study individuals and populations at high genetic risk of cancer in order to improve our understanding of cancer and to improve cancer care. There are currently 6 open clinical genetics studies at the CGB eligible for this screening process.\n\n* 02C0052: Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study (Cancer in Bone Marrow Failure)\n* 11C0255: Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome (Li Fraumeni Syndrome Study)\n* 11C0034: DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study (Pleuropulmonary Blastoma)\n* 02C0211: Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma (Melanoma-Prone Families)\n* 10CN188: Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-susceptibility Genes (Sporadic Chordoma Study)\n\nThe following studies have their own study-specific screeners. If you are interested in these studies, please click the links below to fill out the relevant study screener:\n\n* 001109: Defining the Natural History of Squamous Cell Carcinoma in Fanconi anemia (SCC Screening in FA): https:\u002F\u002Fservice.cancer.gov\u002Ffanconi\n* 20C0107: Clinical, Genetic, and Epidemiologic Study of Children and Adults with RASopathies (RASopathies Study): https:\u002F\u002Fservice.cancer.gov\u002Fmyras\n\nObjective:\n\nTo find people to participate in active CGB cancer research studies.\n\nEligibility:\n\nPeople of any age who meet the eligibility criteria for one of the open CGB cancer research studies. You can learn more about the CGB cancer research studies by clicking on the links to the study-specific websites above. This typically involves a personal or family history of certain cancers that are being studied by researchers at CGB.\n\nDesign:\n\nParticipants will fill out a screening questionnaire to determine if they are eligible to participate in one or more CGB clinical genetics studies. The survey asks about personal health history, including cancer; family history; and genetic testing results and takes 15 to 20 minutes.\n\nEach study has its own eligibility criteria. Survey respondents will select which study (or studies) that are interested in participating in, and the relevant study team(s) will review the screener to determine eligibility to participate in the study. Participants who are determined to be eligible for a study based on their screener will be contacted by the respective study team to learn more about the study and to consent to enroll in the study if they choose to do so. Participants who consent to enroll in a study may be asked to provide medical records; samples such as blood, saliva, or other tissues; and to participate in activities such as phone interviews or surveys. They may be invited for evaluations at the clinical center. Every study activity is voluntary. None of the studies provide treatments. Participants may be contacted to consider enrolling in future studies.",[56,57,58,59,60,61,25,62,63,64],"Melanoma","Li-Fraumeni Syndrome","Pulmonary Blastoma","Chordoma","Congenital Bone Marrow Failure Syndromes","Costello Syndrome","CFC Syndrome (CFCS)","Legius Syndrome","RASopathies",[25,57,66,67,59,68,64,28,69],"Clinical Genetics Branch, NCI","Hereditary Melanoma","DICER-1 syndrome","Inherited Bone Marrow Failure Syndromes","NOT_YET_RECRUITING",{"date":33,"type":34},{"date":36,"type":21},{"date":74,"type":21},"2036-01-01",{"name":40,"class":41},{"id":77,"slug":4,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":48,"acronym":4,"eligibilityCriteria":49,"healthyVolunteers":11,"sex":16,"minAge":50,"maxAge":51,"enrollmentInfo":78,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":54,"conditions":79,"keywords":80,"overallStatus":70,"whyStopped":4,"lastUpdateSubmitDate":81,"lastUpdatePostDateStruct":82,"startDateStruct":84,"completionDateStruct":86,"leadSponsor":87,"locationsCount":42},"100593350",{"count":53,"type":21},[56,57,58,59,60,61,25,62,63,64],[25,57,66,67,59,68,64,28,69],"2026-07-01",{"date":83,"type":34},"2026-07-02",{"date":85,"type":21},"2026-07-07",{"date":74,"type":21},{"name":40,"class":41},{"id":89,"slug":90,"hasResults":11,"nctId":91,"briefTitle":92,"officialTitle":92,"acronym":4,"eligibilityCriteria":93,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":94,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":96,"conditions":97,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":98,"lastUpdatePostDateStruct":99,"startDateStruct":100,"completionDateStruct":102,"leadSponsor":104,"locationsCount":42},"100642578","mri-as-noninvasive-innovative-approach-in-detection-and-monitoring-of-malignant-oral-lesions-in-fanconi-anemia-patients-100642578","NCT07649031","MRI as Noninvasive Innovative Approach in Detection and Monitoring of Malignant Oral Lesions in Fanconi Anemia Patients","Inclusion Criteria:\n\n* Patients with a diagnosis of Fanconi Anemia who are willing to participate and willing to have MRIs\n* Willing to provide informed consent\n\nExclusion Criteria:\n\n* Patient without diagnosis of FA\n* Patients with FA who are under the age of 18\n* Unable to tolerate any MRI due to claustrophobia\n* Any contraindication for the MRI\n* Unable to provide informed consent or comply with the study protocol",{"count":95,"type":21},80,"This study being done to learn more about the use of medical Magnetic Resonance Imaging (mMRI) and dedicated dental MRI (ddMRI) as a non-invasive diagnosing tool when evaluating potential oral cancerous and precancerous lesions in Fanconi Anemia patients.",[25],"2026-06-30",{"date":83,"type":34},{"date":101,"type":34},"2026-06-23",{"date":103,"type":21},"2030-05-31",{"name":105,"class":106},"University of Minnesota","OTHER",{"id":108,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":109,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":110,"keywords":111,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":112,"lastUpdatePostDateStruct":113,"startDateStruct":115,"completionDateStruct":116,"leadSponsor":117,"locationsCount":42},"100573284",{"count":20,"type":21},[25],[27,25,28,29],"2026-06-25",{"date":114,"type":34},"2026-06-26",{"date":81,"type":21},{"date":38,"type":21},{"name":40,"class":41},{"id":119,"slug":120,"hasResults":11,"nctId":121,"briefTitle":122,"officialTitle":123,"acronym":4,"eligibilityCriteria":124,"healthyVolunteers":11,"sex":16,"minAge":125,"maxAge":126,"enrollmentInfo":127,"targetDuration":4,"studyType":129,"phases":130,"briefSummary":132,"conditions":133,"keywords":134,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":139,"lastUpdatePostDateStruct":140,"startDateStruct":141,"completionDateStruct":143,"leadSponsor":145,"locationsCount":42},"100312778","fanca-gene-transfer-for-fanconi-anemia-using-a-high-safety-high-efficiency-self-inactivating-lentiviral-vector-100312778","NCT03351868","FANCA Gene Transfer for Fanconi Anemia Using a High-safety, High-efficiency, Self-inactivating Lentiviral Vector","Gene Transfer for Fanconi Anemia Using a Self-inactivating Lentiviral Vector","Inclusion Criteria:\n\n1. Diagnosis of Fanconi anemia FANCA type based on DNA sequencing and sensitivity test for chromosomal cleavage by mitomycin C or butylene oxide.\n2. No cytogenetic abnormalities and the proportion of myelodysplastic abnormalities does not exceed 5% within 3 months prior to stem cell collection.\n3. Age: ≥ 4 years.\n4. Karnofsky: ≥ 70%.\n5. ANC ≥ 5×10\\^8\u002FL; PLT ≥ 2×10\\^10\u002FL.\n6. Hemoglobin ≥ 8g\u002FdL.\n7. Proper renal and hepatic functions (ULN denotes \"upper limit of normal range\") with\n\n   * serum creatinine ≤ 1.5×ULN;\n   * serum bilirubin ≤ 3×ULN;\n   * AST\u002FALT ≤ 5×ULN.\n8. Pulmonary function is normal; DLCO \\> 50%.\n9. Written, informed consent obtained prior to any study-specific procedures.\n\nExclusion Criteria:\n\n1. Diagnosis of active malignant disease or myelodysplastic syndrome.\n2. Diagnosis of myeloid leukemia.\n3. Pregnant or lactating females.\n4. Existence of an available HLA-identical related donor.\n5. Subject infected with HBV (HBsAg positive), HIV (HIV antibody positive), HTLV (HTLV antibody positive), Treponema pallidum antibody positive or TB culture positive.\n6. Patients, in the opinion of investigators, may not be eligible or not able to comply with the study.","2 Years","20 Years",{"count":128,"type":21},10,"INTERVENTIONAL",[131],"NA","This is a Phase I\u002FII clinical trial of gene therapy for treating Fanconi anemia using a self-inactivating lentiviral vector to functionally correct the defective gene. The objectives are to evaluate the safety and efficacy of the gene transfer clinical protocol.",[25],[135,136,137,138],"Fanconi anemia","Lentiviral vector","FANCA","Gene","2026-06-18",{"date":101,"type":34},{"date":142,"type":34},"2026-06-01",{"date":144,"type":21},"2030-12-31",{"name":146,"class":106},"Shenzhen Geno-Immune Medical Institute",{"id":148,"slug":149,"hasResults":11,"nctId":150,"briefTitle":151,"officialTitle":151,"acronym":152,"eligibilityCriteria":153,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":154,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":156,"conditions":157,"keywords":202,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":212,"lastUpdatePostDateStruct":213,"startDateStruct":215,"completionDateStruct":217,"leadSponsor":219,"locationsCount":42},"100289631","familial-investigations-of-childhood-cancer-predisposition-100289631","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.",{"count":155,"type":21},1500,"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.",[158,159,160,161,162,163,164,165,166,167,168,169,170,171,25,172,173,174,175,176,177,178,179,57,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201],"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","Familial Cancer","Familial Wilms Tumor","Familial Neuroblastoma","GIST","Hereditary Breast and Ovarian Cancer","Hereditary Paraganglioma-Pheochromocytoma Syndrome","Hodgkin Lymphoma","Juvenile Polyposis","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",[203,204,205,206,207,208,209,210,211],"Familial cancer","Genetic predisposition","Heritable disease","Cancer risk","Genome analysis","Genetic modifiers","Next generation sequencing (NGS)","Genetic counseling","DNA","2026-06-15",{"date":214,"type":34},"2026-06-17",{"date":216,"type":34},"2017-04-06",{"date":218,"type":21},"2037-03-31",{"name":220,"class":106},"St. Jude Children's Research Hospital",{"id":222,"slug":223,"hasResults":11,"nctId":224,"briefTitle":225,"officialTitle":226,"acronym":4,"eligibilityCriteria":227,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":228,"targetDuration":4,"studyType":129,"phases":230,"briefSummary":233,"conditions":234,"keywords":241,"overallStatus":70,"whyStopped":4,"lastUpdateSubmitDate":247,"lastUpdatePostDateStruct":248,"startDateStruct":250,"completionDateStruct":252,"leadSponsor":254,"locationsCount":256},"100624357","phase-1-prenatal-transplantation-for-fetuses-with-fanconi-anemia-100624357","NCT07408583","Prenatal Transplantation for Fetuses With Fanconi Anemia","A Phase I\u002FII, Non-Randomized Study of the Safety and Efficacy of In Utero Hematopoietic Stem Cell Transplantation for the Treatment of Fanconi Anemia in Affected Fetuses","Inclusion Criteria:\n\n* Male or female fetuses from 19\\^0\u002F7 - 28\\^0\u002F7 weeks gestational age at time of transplant.\n* Diagnosed with FA by either chorionic villus sampling (CVS), or amniocentesis, or cordocentesis with abnormal fetal chromosomal breakage studies and\u002For FANC gene mutations when combined with at least one of the following: 1) abnormal chromosomal breakage result consistent with an FA diagnosis, 2) family history of a 1st degree relative with confirmed FA, or 3) congenital anomalies consistent with the diagnosis of FA on fetal ultrasound.\n* Parents must consent to fetal autopsy in the event of a fetal demise.\n* Adequate bone marrow harvest from maternal participant is a condition for inclusion.\n\nExclusion Criteria:\n\n* Fetal Participant Exclusion Criteria: Major anatomic or genetic anomalies that contributes a significant morbidity or mortality risk, and\u002For echocardiogram or ultrasound findings that indicate a high risk of fetal demise after fetal intervention. Fetuses with a normal chromosomal breakage study that determines they are likely FA negative.\n* Maternal Subject Exclusion Criteria: Maternal participants will be excluded if they have one or more morbidities that would preclude bone marrow harvest and fetal intervention including, but not limited to, morbid obesity with a body mass index greater than 40, significant maternal cardiac disease, mirror syndrome, clinically symptomatic maternal anemia, Preterm premature rupture of membranes (PPROM), Active Preterm labor (PTL), opioid use disorder, current use of anticoagulants.",{"count":229,"type":21},12,[231,232],"PHASE1","PHASE2","The investigators aim to evaluate the safety and efficacy of in utero hematopoietic stem cell transplantation (IUHSCT) for the treatment of fetuses diagnosed with Fanconi anemia (FA) during pregnancy.",[25,235,60,236,237,238,239,240],"Anemia, Hypoplastic, Congenital","Bone Marrow Failure Disorders","Genetic Diseases, Inborn","Congenital, Hereditary, and Neonatal Diseases and Abnormalities","DNA Repair-Deficiency Disorders","Cancer Predisposition Syndrome",[242,243,244,245,135,246],"cell transplants","grafts","stem cells","bone marrow","prenatal","2026-06-12",{"date":249,"type":34},"2026-06-16",{"date":251,"type":21},"2028-01",{"date":253,"type":21},"2033-07",{"name":255,"class":106},"Agnieszka Czechowicz",2,{"id":258,"slug":259,"hasResults":11,"nctId":260,"briefTitle":261,"officialTitle":261,"acronym":4,"eligibilityCriteria":262,"healthyVolunteers":11,"sex":16,"minAge":263,"maxAge":264,"enrollmentInfo":265,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":267,"conditions":268,"keywords":270,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":275,"lastUpdatePostDateStruct":276,"startDateStruct":277,"completionDateStruct":279,"leadSponsor":281,"locationsCount":42},"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":266,"type":21},200,"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....",[25,269],"Inherited Bone Marrow Failure Syndrome",[271,269,272,273,274],"Hereditary","Oral Potentially Malignant Lesion","Surveillance","Precancer","2026-06-11",{"date":247,"type":34},{"date":278,"type":34},"2023-03-23",{"date":280,"type":21},"2035-12-31",{"name":40,"class":41},{"id":283,"slug":284,"hasResults":11,"nctId":285,"briefTitle":286,"officialTitle":287,"acronym":4,"eligibilityCriteria":288,"healthyVolunteers":289,"sex":16,"minAge":290,"maxAge":18,"enrollmentInfo":291,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":293,"conditions":294,"keywords":298,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":275,"lastUpdatePostDateStruct":303,"startDateStruct":304,"completionDateStruct":4,"leadSponsor":306,"locationsCount":256},"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",{"count":292,"type":21},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.",[295,168,25,296,297],"Diamond Blackfan Anemia","Shwachman Diamond Syndrome","Inherited Bone Marrow Failure Syndrome, Aplastic Anemia",[25,295,168,296,271,299,300,301,69,302,172],"Natural History","Fanconi's Anemia","Bone Marrow","IBMFS",{"date":247,"type":34},{"date":305,"type":34},"2001-11-28",{"name":40,"class":41},{"id":308,"slug":309,"hasResults":11,"nctId":310,"briefTitle":311,"officialTitle":311,"acronym":4,"eligibilityCriteria":312,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":313,"targetDuration":315,"studyType":22,"phases":4,"briefSummary":316,"conditions":317,"keywords":328,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":332,"lastUpdatePostDateStruct":333,"startDateStruct":335,"completionDateStruct":337,"leadSponsor":339,"locationsCount":42},"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":314,"type":21},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.",[318,319,320,321,322,323,168,166,324,325,25,326,327],"Bone Marrow Failure Syndromes","Erythrocyte Disorder","Leukocyte Disorder","Hemostasis","Blood Coagulation Disorder","Sickle Cell Disease","Congenital Thrombocytopenia","Severe Congenital Neutropenia","Myelodysplastic Syndromes","Myeloproliferative Diseases",[329,330,331],"Genetics","Whole genome sequencing","Pediatrics and hematology","2026-06-05",{"date":334,"type":34},"2026-06-09",{"date":336,"type":34},"2016-06-17",{"date":338,"type":21},"2050-07",{"name":220,"class":106},{"id":341,"slug":342,"hasResults":11,"nctId":343,"briefTitle":344,"officialTitle":345,"acronym":346,"eligibilityCriteria":347,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":348,"targetDuration":4,"studyType":129,"phases":350,"briefSummary":351,"conditions":352,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":354,"lastUpdatePostDateStruct":355,"startDateStruct":357,"completionDateStruct":359,"leadSponsor":361,"locationsCount":256},"100565893","phase-1-afatinib-in-patients-with-fanconi-anemia-fa-and-advanced-head-and-neck-squamous-cell-carcinoma-hnscc-100565893","NCT06648096","Afatinib in Patients With Fanconi Anemia (FA) and Advanced Head and Neck Squamous Cell Carcinoma (HNSCC)","Phase Ib\u002FII Study to Investigate the Safety and Efficacy of Afatinib When Administered as Therapy in Fanconi Anemia Patients With Unresectable and \u002F or Metastatic Locoregionally Advanced Squamous Cell Carcinoma of the Oral Cavity, Oropharynx or Hypopharynx or Larynx.","AFAN","Inclusion Criteria:\n\n1. Written informed consent according to local guidelines, must be signed and dated by the participant and investigator prior to performing any protocol procedure.\n2. Patient is ≥ 18 years of age.\n3. Confirmed diagnosis of Fanconi anemia.\n4. Histologically or cytologically confirmed unresectable or locoregionally advanced squamous cell carcinoma of the oral cavity, oropharynx, hypopharynx, larynx, nasopharynx, paranasal sinuses or salivary glands. Patients with distal metastasis (M1, American Joint Cancer Committee (AJCC) 8th ed.) are also eligible.\n5. Tumor not a candidate for resection prior to Afatinib due to technical inability to resect (tumor fixation \u002F invasion in the skull base, cervical vertebrae, nasopharynx or fixed lymph nodes) and \u002F or low surgical cure \\[T3-T4, N2-N3; , AJCC 8th ed.\\]).\n6. Patients must have at least 1 measurable lesion by computed tomography (CT) scan or magnetic resonance imaging (MRI) as defined by RECIST v1.1.\n7. Previous anticancer treatment is allowed if it ends 6 weeks or 5 half-lives, whichever is shorter, before the expected date of start of the study treatment.\n8. Previous locoregional treatments such as radiotherapy are allowed.\n9. Eastern Cooperative Oncology Group (ECOG) performance status \\\u003C 2 at inclusion.\n10. Adequate organ and bone marrow functions, as defined below:\n\n    1. Neutrophils \\> 1000 cells \u002F microliter.\n    2. Platelets \\> 50,000 cells \u002F microliter.\n    3. Hemoglobin \\> 8 g \u002F dL\n    4. Creatinine \\\u003C 1.5 x upper limit normal (ULN) with clearance \\> 50 mL \u002F min.\n    5. Total bilirubin \\\u003C 1.5 x ULN. Note: patients with Gilbert's may be included with bilirubin \\\u003C2 x ULN.\n    6. Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) \\\u003C 2.5 x ULN or \\\u003C 5 ULN if liver metastases are present.\n    7. International normalized ratio (INR) and prothrombin time (PT) \\\u003C1.5 x ULN.\n11. Female patients must either:\n\n    1. Be of non-childbearing potential:\n\n       Postmenopausal \\*(defined as at least 1 year without any menses) prior to screening , or Documented surgically sterile (e.g.hysterectomy, bilateral salpingectomy, bilateral oophorectomy, or bilateral tubal occlusion).\n\n       \\*Those who are amenorrheic due to an alternative medical cause are not considered postmenopausal and must follow the criteria for childbearing potential subjects.\n\n       OR\n    2. If of childbearing potential:\n\n    Agree not to try to become pregnant during the study and for at least 1 months after the final study drug administration, And have a negative urine or serum pregnancy test within 7 days prior to Day 1 (females with false positive results and documented verification of negative pregnancy status are eligible for participation), And if heterosexually active, agree to abstinence (if in line with the usual preferred lifestyle of the patient) or consistently use a condom plus 1 form of highly effective birth control per locally accepted standards starting at screening and throughout the study period and for at least 1 month after the final study drug administration.\n12. Female patients must agree not to breastfeed or donate ovules starting at screening and throughout the study period, and for at least 1 month after the final study drug administration.\n13. Male patients must not donate sperm starting at screening and throughout the study period, and for at least 1 month after the final study drug administration.\n14. Male patients with a partner with childbearing potential, or who is pregnant or breastfeeding must agree to abstinence or use a condom plus 1 form of highly effective birth control throughout the study period and for at least 1 month after the final study drug administration.\n15. Patient agrees not to participate in another interventional study while on treatment in the present study.\n\nExclusion Criteria:\n\n1. Patients who are candidates for surgery with curative intent are not eligible.\n2. Less than two weeks from surgical resection or other major surgical procedure at start of treatment. Planned surgery for other diseases.\n3. Previous treatment with EGFR small molecule inhibitors, EGFR inhibitory antibodies and \u002F or any investigational agents for the treatment of HNSCC within 4 weeks prior to the selection was not allowed.\n\n   Note: Previous treatment with chemotherapy and\u002For radiotherapy is allowed.\n4. Patient must have recovered from any previous treatment toxicity to Grade ≤ 2.\n5. Existence of any other intercurrent malignant disease is not allowed within the previous 2 years to inclusion.\n\n   Note: Patients with non melanoma skin cancer, curatively treated localized prostate cancer, or carcinoma in situ of any type (if complete resection was performed) are allowed.\n6. Active severe Severe infectious disease in the 4 weeks prior to the initiation of study treatment, including . Known human immunodeficiency virus (HIV) infection or chronic Hepatitis B or C.\n7. Patient has documented history of a cerebral vascular event (stroke or transient ischemic attack), or the following criteria for cardiac disease:\n\n   1. Myocardial infarction or unstable angina pectoris within 6 months of enrollment.\n   2. History of serious ventricular arrhythmia (ie, ventricular tachycardia or ventricular fibrillation), high-grade atrioventricular block, or other cardiac arrhythmias requiring antiarrhythmic medications (except for atrial fibrillation that is well controlled with antiarrhythmic medication); history of QT interval prolongation.\n   3. New York Heart Association (NYHA) class III or greater congestive heart failure or left ventricular ejection fraction of \\\u003C 40%.\n8. Participants with QTc interval (corrected) \\> 470 msec at screening.\n9. History of interstitial lung disease requiring corticosteroids or pneumonitis.\n10. Gastrointestinal disorders that may interfere with the absorption of the study drug or chronic diarrhea.\n11. Patient has known hypersensitivity to afatinib or to any excipient contained in the drug formulation.\n12. Female patients who are or intend to be pregnant or breastfeeding during their participation in the study or 1 month after the final study drug administration.\n13. Patients unable to comply with the protocol as determined by the investigator.\n14. The patient is currently participating in another clinical trial that would interfere with the radiological imaging schedule or any other determinations required in this protocol.\n15. Patient has other underlying medical conditions that, in the opinion of the investigator, would impair the ability of the patient to receive or tolerate the planned treatment and follow-up.\n16. Patients with psychiatric disorders that may interfere with monitoring.",{"count":349,"type":21},25,[231,232],"This research study is a phase Ib\u002FII, single-arm, non-randomized, non-blind, multicenter study designed to determine whether Afatinib is effective and safe in patients with locoregionally unresectable and \u002F or metastatic HNSCC with Fanconi Anemia.\n\nThe main hypothesis, based on preclinical evidence, is that treatment with afatinib, an epithelial growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI), could be an effective treatment option to control cancer for patients with FA - HNSCC.",[25,353],"Head and Neck Squamous Cell Carcinoma","2026-05-22",{"date":356,"type":34},"2026-05-27",{"date":358,"type":34},"2024-11-08",{"date":360,"type":21},"2028-12",{"name":362,"class":106},"Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau",{"id":364,"slug":365,"hasResults":11,"nctId":366,"briefTitle":367,"officialTitle":368,"acronym":4,"eligibilityCriteria":369,"healthyVolunteers":11,"sex":16,"minAge":370,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":371,"phases":4,"briefSummary":372,"conditions":373,"keywords":375,"overallStatus":378,"whyStopped":4,"lastUpdateSubmitDate":379,"lastUpdatePostDateStruct":380,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":382,"locationsCount":4},"100572266","expanded-access-to-cd34-selection-utilizing-miltenyi-clinimacs-prodigy-for-patients-receiving-peripheral-blood-stem-cell-transplantations-and-stem-cell-boosts-100572266","NCT06731036","Expanded Access to CD34+ Selection Utilizing Miltenyi CliniMACS Prodigy® for Patients Receiving Peripheral Blood Stem Cell Transplantations and Stem Cell Boosts","A Compassionate Release Protocol: Expanded Access to CD34+ Selection Utilizing Miltenyi CliniMACS Prodigy® for Patients Receiving Peripheral Blood Stem Cell Transplantations and Stem Cell Boosts","Inclusion Criteria:\n\n* Patients over 1 month of age\n* The following category of patients is eligible for this protocol:\n\n  a. Patients undergoing allogeneic transplantation for the following indications:\n\n  i. Non-malignant disorders where graft versus host disease is detrimental:\n* Severe combined immune deficiency\n* Fanconi Anemia\n* Dyskeratosis Congenita\n* Sickle Cell Disease\n\nor\n\nb. Patients undergoing autologous transplantation intended for hematopoietic\u002Fimmunologic reconstitution\n\nor\n\nc. Patients with poor graft function defined as persistent cytopenia following stem cell transplant without evidence of recurrent disease\n\n* Subjects must not have more than one active malignancy at the time of enrollment (Subjects with a prior or concurrent malignancy whose natural history or treatment does not have the potential to interfere with the safety or efficacy assessment of the investigational regimen \\[as determined by the treating physician and approved by the PI\\] may be included).\n* Written informed consent obtained from the subject and the subject agrees to comply with all the study-related procedures.\n* Women of childbearing potential (WOCBP) must be using an adequate method of contraception to avoid pregnancy throughout participation at least 1 year after the stem cell infusion to minimize the risk of pregnancy. Prior to protocol enrollment, women of childbearing potential must be advised of the importance of avoiding pregnancy during trial participation and the potential risk factors for an unintentional pregnancy. WOCBP includes any woman who has experienced menarche and who has not undergone successful surgical sterilization (hysterectomy, bilateral tubal ligation, or bilateral oophorectomy) or who is not post-menopausal. Post-menopause is defined as:\n\n  1. Amenorrhea that has lasted for ≥ 12 consecutive months without another cause, or\n  2. For women with irregular menstrual periods who are taking hormone replacement therapy (HRT), a documented serum follicle-stimulating hormone (FSH) level of greater than 35 mIU\u002FmL.\n\n     * Males with female partners of child-bearing potential must agree to use physician-approved contraceptive methods (e.g., abstinence, condoms, vasectomy) throughout participation and should avoid conceiving children for 1 year following infusion of the stem cells.\n\nExclusion Criteria:\n\n* Patients with a fully HLA matched sibling donor\n* Patients with active graft versus host disease\n* Patient with uncontrollable transplant associated thrombotic microangiopathy\n* Patient not cleared by transplant provider to process\n* Donor unable to donate peripheral blood stem cells\n* Females or males of childbearing potential who are unwilling or unable to use an acceptable method to avoid pregnancy for the entire participation period and for at least 1 year after stem cell infusion.\n* Females who are known to be pregnant or breastfeeding.\n* Prisoners or subjects who are involuntarily incarcerated, or subjects who are compulsorily detained for treatment of either a psychiatric or physical illness.","1 Month","EXPANDED_ACCESS","Allogeneic stem cell transplantation (alloSCT) is utilized for various underlying diseases. AlloSCT is limited by graft versus host disease (GVHD), graft rejection, viral infections, and post-transplant lymphoproliferative disorders. To mitigate graft versus host disease, graft manipulation has been taking place with CD34+ selection to decrease T-cells entering into the patient, thus lowering the risk of GVHD.\n\nHistorically CD34+ manipulation has been performed under a humanitarian use device by utilizing the Miltenyi CliniMACs CD34 Reagent System. This was used for patients with AML in first remission. This approach has additionally been used for patients with sickle cell disease, immune deficiencies, and poor graft function with excellent efficiency. The purpose of this protocol is to create expanded access of CD34+ manipulation for various underlying diseases utilizing the Miltenyi CliniMACS Prodigy® device.",[374,25,168,323],"Severe Combined Immunodeficiency",[376,377],"stem cell transplantation","graft manipulation","AVAILABLE","2026-02-16",{"date":381,"type":34},"2026-02-18",{"name":383,"class":106},"University of Florida",{"id":385,"slug":386,"hasResults":11,"nctId":387,"briefTitle":388,"officialTitle":389,"acronym":4,"eligibilityCriteria":390,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":391,"enrollmentInfo":392,"targetDuration":4,"studyType":129,"phases":394,"briefSummary":395,"conditions":396,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":402,"lastUpdatePostDateStruct":403,"startDateStruct":405,"completionDateStruct":407,"leadSponsor":409,"locationsCount":42},"100330256","phase-2-alphabeta-tcd-hct-in-patients-with-inherited-bmf-disorders-100330256","NCT03579875","Alpha\u002FBeta TCD HCT in Patients With Inherited BMF Disorders","MT2017-17:T Cell Receptor Alpha\u002FBeta T Cell Depleted Hematopoietic Cell Transplantation in Patients With Inherited Bone Marrow Failure (BMF) Disorders","Patient Selection:\n\nInclusion Criteria:\n\nFor FA patients:\n\n* Diagnosis of Fanconi anemia\n\n  * Age \\\u003C65 years of age\n* Has one of the following risk factors:\n\n  * Severe aplastic anemia (SAA)\n  * Myelodysplastic features\n  * High risk genotype\n  * Immunodeficiency associated with history of recurrent infections\n* Karnofsky performance status ≥ 70% if ≥ 16 years of age or Lansky play score ≥ 50% for patients \\\u003C16 years of age\n\n  * Adequate pulmonary, cardiac and liver function\n  * Voluntary written consent (minor assent if appropriate) prior to the performance of any study related procedures not part of standard medical care\n\nFor TBD patients:\n\n• Diagnosis of TBD\n\n* Age \\\u003C70 years of age\n* Has one of the following risk factors:\n* Severe aplastic anemia (SAA)\n* Myelodysplastic features\n* Karnofsky performance status ≥ 70% if ≥ 16 years of age or Lansky play score\n\n  ≥ 50% for patients \\\u003C16 years of age\n* Adequate pulmonary, cardiac and liver function\n* Voluntary written consent (minor assent if appropriate) prior to the performance of any study related procedures not part of standard medical care\n\nExclusion Criteria:\n\n* Pregnant or breastfeeding as the treatment used in this study are Pregnancy Category D. Females of childbearing potential must have a negative pregnancy test (serum or urine) within 14 days of study registration\n* Active, uncontrolled infection within 1 week prior to starting study therapy\n* Malignant solid tumor cancer within previous 2 years\n\nDonor Selection (Inclusion Criteria): meets one of the following match criteria:\n\n* an HLA-A, B, DRB1 matched sibling donor (matched sibling)\n* an HLA-A, B, DRB1 matched related donor (other than sibling)\n* a related donor mismatched at 1 HLA-A, B, C and DRB1 antigen\n* 7-8\u002F8 HLA-A,B,C,DRB1 allele matched unrelated donor per current institutional guidelines Patients and donors are typed for HLA-A and B using serological or molecular techniques and for DRB1 using high resolution molecular typing. If a donor has been selected on the basis of HLA-A, B, C and DRB1 typing as above, preference will be made for donors matched at the HLA-C locus.\n* Body weight of at least 40 kilograms and at least 12 years of age\n* Willing and able to undergo mobilized peripheral blood apheresis\n* In general good health as determined by the medical provider\n* Adequate organ function defined as:\n\n  * Hematologic: hemoglobin, WBC, platelet within 10% of upper and lower limit of normal range of test (gender based for hemoglobin)\n  * Hepatic: ALT \\\u003C 2 x upper limit of normal\n  * Renal: serum creatinine \\\u003C 1.8 mg\u002Fdl\n* Performance of a donor infectious disease screen panel including CMV Antibody, Hepatitis B Surface Antigen, Hepatitis B Core Antibody, Hepatitis C Antibody, HIV 1\u002F2 Antibody, HTLVA 1\u002F2 Antibody, Treponema, and Trypanosoma Cruzi (T. Cruzi) plus HBV, HCV, WNV, HIV by nucleic acid testing (NAT); and screening for evidence of and risks factors for infection with Zika virus, or per current standard institutional donor screen - must be negative for HIV and active hepatitis B\n* Not pregnant - females of childbearing potential must have a negative pregnancy test within 7 days of mobilization start\n* Voluntary written consent (parent\u002Fguardian and minor assent, if \\\u003C 18 years) prior to the performance of any research related procedure","65 Years",{"count":393,"type":21},48,[232],"This is a phase II trial of T cell receptor alpha\u002Fbeta depletion (α\u002Fβ TCD) peripheral blood stem cell (PBSC) transplantation in patients with inherited bone marrow failure (BMF) disorders to eliminate the need for routine graft-versus-host disease (GVHD) immune suppression leading to earlier immune recovery and potentially a reduction in the risk of severe infections after transplantation.",[25,397,326,398,399,400,168,401],"Severe Aplastic Anemia","T Cell Receptor Alpha\u002FBeta Depletion","Telomere Biology Disorder","Bone Marrow Failure","Telomere Biology Disorders","2026-01-29",{"date":404,"type":34},"2026-01-30",{"date":406,"type":34},"2018-11-13",{"date":408,"type":21},"2029-01-05",{"name":410,"class":106},"Masonic Cancer Center, University of Minnesota",{"id":412,"slug":413,"hasResults":11,"nctId":414,"briefTitle":415,"officialTitle":416,"acronym":4,"eligibilityCriteria":417,"healthyVolunteers":11,"sex":16,"minAge":125,"maxAge":4,"enrollmentInfo":418,"targetDuration":4,"studyType":129,"phases":420,"briefSummary":421,"conditions":422,"keywords":423,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":427,"lastUpdatePostDateStruct":428,"startDateStruct":430,"completionDateStruct":432,"leadSponsor":433,"locationsCount":42},"100422685","phase-1-depleted-donor-stem-cell-transplant-in-children-and-adults-with-fanconi-anemia-after-being-conditioned-with-a-regimen-containing-briquilimab-100422685","NCT04784052","Depleted Donor Stem Cell Transplant in Children and Adults With Fanconi Anemia After Being Conditioned With a Regimen Containing Briquilimab","TCRαβ+ T-cell\u002FCD19+ B-cell Depleted Hematopoietic Grafts and a Reduced Intensity Preparative Conditioning Regimen Containing JSP191 (Briquilimab) to Achieve Engraftment and Blood Reconstitution in Patients With Fanconi Anemia","Inclusion Criteria:\n\nAll patients must have:\n\n1. Fanconi Anemia diagnosis as demonstrated by abnormal chromosome breakage studies with increased sensitivity to mitomycin-C (MMC) or diepoxybutane (DEB) and at least one mutation in a known Fanconi-associated gene\n2. Bone marrow failure (defined by reduction in at least one cell line on two separate occasions at least one month apart (e.g., platelet count of \\\u003C100,000 per cubic millimeter, hemoglobin \\\u003C9 gm\u002Fdl and\u002For absolute neutrophil count (ANC) of \\\u003C1000\u002Fmm)\n3. Age of ≥2 years\n4. Consenting ≥5\u002F10 HLA-matched related or unrelated donor available for apheresis\n5. Organ function defined as:\n\n   1. Serum Creatinine \\\u003C2.0 mg\u002FdL and corrected creatinine clearance\u002Fcystatin cL \\>60 mL\u002Fmin\u002F1.73m\\^2 without dialysis\n   2. Forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), and diffusing capacity of the lung for carbon monoxide (DLCO) corrected for hemoglobin and volume, \\>50% predicted by pulmonary function tests (PFTs)\n   3. For patients unable to cooperate for PFTs, criteria are no evidence of dyspnea at rest, no exercise intolerance, and no requirement for supplemental oxygen with spO2 \\>93%\n   4. Shortening fraction of ≥29% or ejection fraction of ≥45% by echocardiogram\n   5. Serum total bilirubin of \\\u003C4 x ULN\n   6. Alanine aminotransferase (ALT) or aspartate aminotransferase (AST) \\\u003C 5 x ULN\n   7. Prothrombin time international normalized ratio (PT INR) and partial thromboplastin time (PTT) \\\u003C1.5 x ULN\n6. Life expectancy of at least 2 years\n7. Patients of childbearing potential must be willing to use an effective contraceptive method for the duration of the peri-transplant conditioning through hematopoietic recovery\n8. Patients and\u002For parents or legal guardians must be able to provide written informed consent and authorize use and disclosure of personal health information in accordance with Health Insurance Portability and Accountability Act\n\nExclusion Criteria:\n\n1. Patients with available and consenting 10\u002F10 HLA-identical sibling donor for apheresis\n2. Patients with any acute or uncontrolled infections at the time of enrollment, including bacterial, fungal or viral\n3. Patients who are seropositive for HIV-I\u002FII or HTLV-I\u002FII.\n4. Patients receiving any other investigational agents or other biological, chemotherapy, or radiation therapy within 14 days of enrollment\n5. Patients with any active malignancies, myelodysplastic syndrome or other concerns for high-risk bone marrow disease\n6. Patients who received androgens in last 3 months\n7. Pregnant or lactating women\n8. Women who are nursing and do not wish to discontinue breastfeeding\n9. Lansky\u002FKarnofsky performance score \\\u003C50%.\n10. Any other medical condition or history that, in the opinion of the Principal Investigator, could pose a significant safety risk to the participant or jeopardize the integrity of the study\n11. Patients who, in the opinion of the Principal Investigator, may not be able to comply with the safety monitoring requirements of the study",{"count":419,"type":21},18,[231,232],"The objective of this clinical trial is to develop a cell therapy for Fanconi Anemia which enables enhanced donor hematopoietic and immune reconstitution with decreased toxicity by transplanting depleted stem cells from a donor with and without using an experimental antibody treatment called JSP-191 as a part of conditioning. This experimental treatment will hopefully cause fewer side effects than chemotherapy (the current standard of care method).\n\nParticipants will be administered the conditioning regimen, are assessed until they receive the depleted stem cell infusion, and will be followed for up to 2 years after the cell infusion.",[25],[424,425,426],"Cell Transplants","Grafts","Stem Cells","2026-01-23",{"date":429,"type":34},"2026-01-27",{"date":431,"type":34},"2021-12-07",{"date":360,"type":21},{"name":434,"class":106},"Porteus, Matthew, MD",{"id":436,"slug":437,"hasResults":11,"nctId":438,"briefTitle":439,"officialTitle":439,"acronym":4,"eligibilityCriteria":440,"healthyVolunteers":11,"sex":16,"minAge":441,"maxAge":442,"enrollmentInfo":443,"targetDuration":4,"studyType":129,"phases":445,"briefSummary":446,"conditions":447,"keywords":454,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":456,"lastUpdatePostDateStruct":457,"startDateStruct":459,"completionDateStruct":461,"leadSponsor":463,"locationsCount":42},"100380322","phase-2-regenerative-medicine-to-restore-hematopoiesis-and-immune-function-in-immunodeficiencies-and-inherited-bone-marrow-failures-100380322","NCT04232085","Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures","Inclusion Criteria\n\nCohort A:\n\nPrimary Immune Deficiencies with indication for HCT:\n\n* Chronic granulomatous disease (CGD)\n* Wiskott-Aldrich syndrome (WAS)\n* Hyper-IgM syndrome\n* Common variable immunodeficiency (CVID)\n* Leukocyte adhesion deficiency-1 (LAD-1)\n* Severe Combined Immunodeficiency (SCID)\n* CTLA-4 deficiency\n* CARD9 deficiency\n* DOCK8 deficiency\n\nImmune Dysregulatory Syndromes:\n\n* Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome\n* Hemophagocytic lymphohistiocytosis (HLH) or related disorder with indication for transplant\n* CAEBV: Patients with chronic EBV infection (CAEBV) with indication for BMT:\n\nInherited Bone marrow failure disorders\n\n* Congenital amegakaryocytic thrombocytopenia (CAMT)\n* Diamond Blackfan anemia (DBA)\n* Shwachman Diamond Syndrome (SDS)\n* Thrombocytopenia Absent Radii (TAR)\n* Glanzmans thrombasthenia (GT)\n* Kostmann syndrome\n* Other indications and\u002For other PID, IDS, and IBMFS diagnoses as deemed appropriate by the PI.\n\nCohort B: Short telomere syndrome\n\nCohort C: Confirmed diagnosis of Fanconi anemia or non-Fanconi DNA-dsb repair disorders\n\n* Fanconi anemia\n* Non-Fanconi DNA-dsb repair disorders\n* Cerunnos-XRCC4-like factor deficiency (XLF or NHEJ1)\n* DNA ligase IV deficiency (LIG4)\n* Nijmegen breakage syndrome (NBS)\n* Increased DNA breakage after exposure of patient cells to DNA cross-linking agents such as diepoxybutane or mitomycin C and germline mutation(s) in an identified Fanconi pathway gene.\n\nAvailable donor as follows:\n\n* Fully HLA matched sibling or other first-degree family member.\n* Fully HLA matched unrelated 10\u002F10 donor using high-resolution DNA-based typing at the following genetic loci: HLA-A, -B, -C, DRB1, and DQB1.\n* Mismatched unrelated donor at 8 or 9\u002F10 alleles, using high-resolution typing as above.\n* HLA-haploidentical family members of any degree who match at least one allele of each of the following genetic loci: HLA-A, -B, -C, DRB1, and DQB1. A minimum match of 5\u002F10 is therefore required, and will be considered sufficient evidence that the donor and recipient share one HLA haplotype.\n* The patient and\u002For legal guardian must sign informed consent for BMT.\n* Patients with adequate organ function as measured by\n* Cardiac: Left ventricular ejection fraction (LVEF) at rest must be ≥ 35%. For patients aged \\\u003C13 years, shortening fraction (SF) \\> 25% by echocardiogram or LVEF by MUGA may be used.\n* Hepatic: Bilirubin ≤ 3.0 mg\u002FdL; and ALT, AST, and Alkaline Phosphatase \\\u003C 5 x ULN.\n* Renal: Serum creatinine within normal range for age, or if serum creatinine outside normal range for age, then renal function (creatinine clearance or GFR) \\> 40 mL\u002Fmin\u002F1.73m2.\n* Pulmonary: PFT with FEV1 and FVC \\>\u002F= 50% of normal and DLCO corrected for Hgb \\>\u002F= 40% of normal. Patients unable to undergo PFTs should have stable resp status with SaO2 \\>90% on a max of 2L\u002Fmin supplemental O2.\n* Karnofsky or Lansky performance status ≥70%\n* Females and males of childbearing potential must agree to practice 2 effective methods of contraception at the same time, or agree to abstinence.\n\nExclusion criteria\n\n* Patients will not be excluded on the basis of sex, racial or ethnic background.\n* Positive leukocytotoxic crossmatch.\n* Prior allogeneic stem cell transplant.\n* Uncontrolled bacterial, viral, or fungal infection at the time of enrollment. Uncontrolled is defined as currently taking medication and with progression or no clinical improvement on adequate medical treatment. The investigators recognize that patients with CAEBV may have ongoing EBV viremia at the time of initiating pre-transplant therapy, but other patients should have no uncontrolled bacterial, viral, or fungal infections.\n* Diagnosis of idiopathic aplastic anemia\n* Seropositivity for the human immunodeficiency virus (HIV)\n* Active Hepatitis B or C determined by serology and\u002For NAT\n* Female patients who are diagnosed as pregnant by beta bHCG testing (per institutional practice) or who are breast-feeding.\n* Active malignancy or within the timeframe for significant concern for relapse of prior malignancy\n* For Cohort B and C: liver biopsy (if performed, not required) with moderate-severe fibrosis\u002Fcirrhosis\n\nDonor Eligibility\n\n* Donor must be medically, socially, and psychologically fit to donate\n* Bone marrow is the preferred graft source, however, PBSCs may be requested. In particular, PBSCs may be preferred for patients with active viral reactivations and\u002For for patients who would benefit from a higher count in the graft. Cord blood is not permitted.\n* First-degree relatives should be tested for degree of HLA match, CMV serology, ABO type, and complete blood count (CBC). An unrelated donor search should be initiated at the time the patient is referred for BMT.\n* Age ≥5 years\n* Donors must meet the selection criteria as defined by the Foundation for the Accreditation of Hematopoietic Cell Therapy (FACT).\n* Lack of recipient anti-donor HLA antibody in recipient\n* Note: In some instances, low level, non-cytotoxic HLA specific antibodies may be permissible if found to be at a level well below that detectable by flow cytometry. This will be decided on a case-by-case basis by the PI and one of the immunogenetics directors.\n* In inherited disorders, family members must be tested for carrier and disease status of the underlying disorders. In the event that family members are unaffected carriers, eligibility as donors will be decided upon by the PI on a case-by-case basis\n* In the event that two or more eligible donors are identified, the donor will be selected per institutional standards. Suggested criteria include the following:\n* Related is preferred over unrelated.\n* The potential donor that is youngest in age is preferred.\n* For CMV seronegative patients, a CMV seronegative donor is preferred. For CMV seropositive patients, a CMV seropositive donor is preferred.\n* Red blood cell compatibility, in order of preference:\n* RBC cross match compatible Minor ABO incompatibility, Major ABO incompatibility\n* If the patient is male, male donors are preferred.","4 Months","50 Years",{"count":444,"type":21},27,[232],"Phase II prospective trial to assess the rates of donor engraftment using reduced intensity conditioning (RIC) hematopoietic stem cell transplant (HSCT) and post-transplant cyclophosphamide (PTCy) for patients with primary immune deficiencies (PID), immune dysregulatory syndromes (IDS), inherited bone marrow failure syndromes (IBMFS), short telomere syndromes, Fanconi anemia, and non-Fanconi DNA double-strand break (DNA-dsb) repair disorder.",[448,449,400,450,25,451,452,168,399,453],"Primary Immune Deficiency Disorder","Immune Deficiency Disease","Short Telomere Length","Non Fanconi DNA-DSB Repair Disorder","Hoyeraal-Hreidarsson Syndrome","Short Telomere Syndrome",[455],"Bone Marrow Transplantation","2025-11-21",{"date":458,"type":34},"2025-11-28",{"date":460,"type":34},"2020-02-12",{"date":462,"type":21},"2028-12-31",{"name":464,"class":106},"Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins",{"id":466,"slug":467,"hasResults":11,"nctId":468,"briefTitle":469,"officialTitle":470,"acronym":471,"eligibilityCriteria":472,"healthyVolunteers":11,"sex":16,"minAge":473,"maxAge":4,"enrollmentInfo":474,"targetDuration":4,"studyType":129,"phases":476,"briefSummary":477,"conditions":478,"keywords":482,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":489,"lastUpdatePostDateStruct":490,"startDateStruct":492,"completionDateStruct":494,"leadSponsor":495,"locationsCount":497},"100220190","phase-2-hsct-for-patients-with-fanconi-anemia-using-risk-adjusted-chemotherapy-100220190","NCT02143830","HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy","A Phase II Trial of HSCT for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine","RAFA","Inclusion Criteria:\n\n* Patients must have a diagnosis of Fanconi anemia\n* Patients must have one of the following hematologic diagnoses:\n\n  1. Severe Aplastic Anemia (SAA), with bone marrow cellularity of \\\u003C25% OR Severe Isolated Single Lineage Cytopenia and at least one of the following features:\n\n     1. Platelet count \\\u003C20 x 109\u002FL or platelet transfusion dependence\\*\n     2. ANC \\\u003C1000 x 109\u002FL\n     3. Hgb \\\u003C8 gm\u002Fdl or red cell transfusion dependence\\*\n  2. Myelodysplastic Syndrome (MDS) (based on WHO or IPSS Classification\n  3. Acute Myelogenous Leukemia (untreated, in remission or with refractory or relapsed disease)\n* Donors will be either human leukocyte antigen (HLA) compatible unrelated or HLA-genotypically matched related donors (no fully matched sibling donor).\n* Patients and donors may be of either gender or any ethnic background.\n* Patients must have a Karnofsky adult, or Lansky pediatric performance scale status \\> 70%.\n* Patients must have adequate physical function measured by:\n\n  1. Cardiac: asymptomatic or if symptomatic then 1) left ventricular ejection fraction (LVEF) at rest must be \\> 50% and must improve with exercise or 2) Shortening Fraction \\> 29%\n  2. Hepatic: \\\u003C 5 x upper limit of normal (ULN) alanine transaminase (ALT) and \\\u003C 2.0 mg\u002Fdl total serum bilirubin.\n  3. Renal: serum creatinine \\\u003C1.5 mg\u002Fdl or if serum creatinine is outside the normal range, then CrCl \\> 50 ml\u002Fmin\u002F1.73 m2\n  4. Pulmonary: asymptomatic or if symptomatic, DLCO \\> 50% of predicted\n* Each patient must be willing to participate as a research subject and must sign an informed consent form.\n* Female patients and donors must not be pregnant or breastfeeding at the time of signing consent. Women must be willing to undergo a pregnancy test prior to transplant and avoid becoming pregnant while on study.\n\nExclusion Criteria:\n\n* Active CNS leukemia\n* Female patients who are pregnant (positive serum or urine HCG) or breast-feeding.\n* Active uncontrolled viral, bacterial or fungal infection\n* Patient seropositive for HIV-I\u002FII; HTLV -I\u002FII","3 Months",{"count":475,"type":21},70,[232],"The purpose of this study is to determine whether the use of lower doses of busulfan and the elimination of cyclosporine will further reduce transplant-related side effects for patients with Fanconi Anemia (FA). Patients will undergo a transplant utilizing mis-matched related or matched unrelated donors following a preparative regimen of busulfan, fludarabine, anti-thymocyte globulin and cyclophosphamide.",[25,479,480,481],"Severe Marrow Failure","Myelodysplastic Syndrome (MDS)","Acute Myelogenous Leukemia (AML)",[483,484,485,161,486,487,488],"marrow aplasia","cytopenia","myelodysplasia","bone marrow transplant","cytoreductive regimen","T-cell reduction","2025-11-10",{"date":491,"type":34},"2025-11-12",{"date":493,"type":4},"2014-04",{"date":360,"type":21},{"name":496,"class":106},"Children's Hospital Medical Center, Cincinnati",3,{"id":499,"slug":500,"hasResults":11,"nctId":501,"briefTitle":502,"officialTitle":503,"acronym":4,"eligibilityCriteria":504,"healthyVolunteers":289,"sex":16,"minAge":17,"maxAge":505,"enrollmentInfo":506,"targetDuration":4,"studyType":129,"phases":508,"briefSummary":509,"conditions":510,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":513,"lastUpdatePostDateStruct":514,"startDateStruct":516,"completionDateStruct":518,"leadSponsor":520,"locationsCount":42},"100514067","role-of-acetaldehyde-in-the-development-of-oral-cancer-100514067","NCT05973656","Role of Acetaldehyde in the Development of Oral Cancer","Dissecting the Role of Acetaldehyde in Oral Carcinogenesis","Inclusion Criteria:\n\n* 21-45 years of age for alcohol drinkers\n* Occasionally consume alcohol\n* At least 1 drink per month for healthy volunteers\n* At least 1 drink in the last 3 months for Fanconi anemia patients\n* Meets one of the three criteria\n* Healthy volunteer - ALDH2\\*1\u002F1\\* homozygotes-not of Eastern Asian decent;\n* Healthy volunteer - ALDH2\\*1\u002F2\\* heterozygotes-of Eastern Asian decent and experience flushing when drinking\n* Individual's with Fanconi anemia (FA).\n* 18-45 years of age for non-drinkers\n* Never consume alcohol\u002Fnot had alcohol in the last 6 months\n* Healthy volunteers.\n* Non-smoker (smoked \\\u003C 100 cigarettes in a lifetime)\n\nExclusion Criteria:\n\n* Pregnant or nursing\n* Taking any medication or drug that might affect alcohol use and absorption or that might be affected by alcohol consumption\n* Healthy volunteers who have taken any antibiotics in the last 3 months\n* Currently consuming more than 21 drinks per week\n* Have any history of alcohol or drug related problems\n* Current or former tobacco\u002Fnicotine product(s) user\n* Any regular use of tobacco\u002Fnicotine products or marijuana in the last year (cigarettes, e-cigarettes, cigars, pipes, smokeless tobacco)\n* \"Trying\" or limited use of any nicotine products or marijuana in the last 1 month\n* Active infection (influenza, cold, COVID, respiratory \u002F sinus infection) - admission in the study will be delayed pending improved health\n* Non-FA volunteers who have an unstable medical condition or condition that could be affected by alcohol consumption (insulin-dependent diabetes, ulcers, heart issues)\n* Experience severe adverse events (nausea, blacking out) when consuming even low doses of alcohol","45 Years",{"count":507,"type":21},170,[131],"This is a minimal risk intervention study where healthy volunteers and individuals with Fanconi anemia will consume a single dose of alcohol and provide primarily non-invasive biological samples at various time points. Biospecimens to be collected include saliva, oral cells collected via mouthwash and cheek brush, and urine. The collection of two blood samples (5 mL each) will be optional and banked for future use.",[511,25,512],"Alcohol-Related Carcinoma","Oral Cavity Carcinoma","2025-08-21",{"date":515,"type":34},"2025-08-22",{"date":517,"type":34},"2022-07-08",{"date":519,"type":21},"2027-09-30",{"name":410,"class":106},{"id":522,"slug":523,"hasResults":11,"nctId":524,"briefTitle":525,"officialTitle":526,"acronym":4,"eligibilityCriteria":527,"healthyVolunteers":11,"sex":16,"minAge":370,"maxAge":17,"enrollmentInfo":4,"targetDuration":4,"studyType":371,"phases":4,"briefSummary":528,"conditions":529,"keywords":533,"overallStatus":378,"whyStopped":4,"lastUpdateSubmitDate":536,"lastUpdatePostDateStruct":537,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":539,"locationsCount":42},"100208829","use-massive-parallel-sequencing-and-exome-capture-technology-to-sequence-the-exome-of-fanconi-anemia-children-and-their-patents-100208829","NCT01995305","Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents","Exome Sequencing of Fanconi Anemia Children and the Their Parents","Inclusion Criteria:\n\nAll the children that are diagnosed to be FA patients at the Blood Disease Hospital between 08\u002F01\u002F2010 - 07\u002F31\u002F2011, will be asked to participated in this study after acquiring the consent.\n\nExclusion Criteria:\n\nCan not acquiring content","Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases. The cells of FA patients are extremely sensitive to MMC and DEB. The symptoms and ages of FA patients are different, so by comparing the exome of FA patients and their parents, the mutations that were accumulated in FA patients could be found, and these genes might be sensitive to repairment and be important for hematopoiesis maintainance.",[25,530,531,532],"Autosomal or Sex Linked Recessive Genetic Disease","Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.","Hematopoiesis Maintainance.",[534,535],"fanconi anemia","hematopoiesis maintainance","2013-11-21",{"date":538,"type":21},"2013-11-26",{"name":540,"class":541},"Xiaofan Zhu","UNKNOWN"]