[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100060136":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":12,"centralContacts":17,"locations":26,"responsibleParty":50,"collaborators":10,"id":52,"slug":53,"hasResults":54,"nctId":55,"briefTitle":56,"officialTitle":57,"acronym":10,"eligibilityCriteria":58,"healthyVolunteers":59,"sex":60,"minAge":61,"maxAge":62,"enrollmentInfo":63,"targetDuration":10,"studyType":66,"phases":10,"briefSummary":67,"conditions":68,"keywords":74,"overallStatus":29,"whyStopped":10,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":86,"completionDateStruct":10,"leadSponsor":88,"locationsCount":89},{"fullName":5,"class":6},"National Institutes of Health Clinical Center (CC)","NIH",[8],{"label":9,"type":10,"description":11,"interventionNames":10},"1",null,"All families with a member who has one of the relevant syndromes.",[13],{"name":14,"affiliation":15,"role":16},"Lisa J McReynolds, M.D.","National Cancer Institute (NCI)","PRINCIPAL_INVESTIGATOR",[18,23],{"name":19,"role":20,"phone":21,"phoneExt":10,"email":22},"NCI Family Study Referrals","CONTACT","(800) 518-8474","ncifamilystudyreferrals@mail.nih.gov",{"name":14,"role":20,"phone":24,"phoneExt":10,"email":25},"(240) 276-5047","mcreynoldslj@mail.nih.gov",[27,41],{"facility":28,"status":29,"city":30,"state":31,"zip":32,"country":33,"countryCode":34,"cosmosGeoPoint":35,"geoPoint":40,"contacts":10},"National Institutes of Health Clinical Center","RECRUITING","Bethesda","Maryland","20892","United States","US",{"type":36,"coordinates":37},"Point",[38,39],-77.10026,38.98067,{"lat":39,"lon":38},{"facility":42,"status":29,"city":43,"state":31,"zip":44,"country":33,"countryCode":34,"cosmosGeoPoint":45,"geoPoint":49,"contacts":10},"National Cancer Institute - Shady Grove","Rockville","20850",{"type":36,"coordinates":46},[47,48],-77.15276,39.084,{"lat":48,"lon":47},{"type":51,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100060136","cancer-in-inherited-bone-marrow-failure-syndromes-100060136",false,"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,"ALL","1 Day","100 Years",{"count":64,"type":65},4000,"ESTIMATED","OBSERVATIONAL","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.",[69,70,71,72,73],"Diamond Blackfan Anemia","Dyskeratosis Congenita","Fanconi Anemia","Shwachman Diamond Syndrome","Inherited Bone Marrow Failure Syndrome, Aplastic Anemia",[71,69,70,72,75,76,77,78,79,80,81],"Hereditary","Natural History","Fanconi's Anemia","Bone Marrow","Inherited Bone Marrow Failure Syndromes","IBMFS","Familial Cancer","2026-06-11",{"date":84,"type":85},"2026-06-12","ACTUAL",{"date":87,"type":85},"2001-11-28",{"name":15,"class":6},2]