[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"shwachman-diamond-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:shwachman-diamond-syndrome":29},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,50,85],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":31,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":40,"lastUpdatePostDateStruct":41,"startDateStruct":44,"completionDateStruct":4,"leadSponsor":46,"locationsCount":49},"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":21,"type":22},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.",[26,27,28,29,30],"Diamond Blackfan Anemia","Dyskeratosis Congenita","Fanconi Anemia","Shwachman Diamond Syndrome","Inherited Bone Marrow Failure Syndrome, Aplastic Anemia",[28,26,27,29,32,33,34,35,36,37,38],"Hereditary","Natural History","Fanconi's Anemia","Bone Marrow","Inherited Bone Marrow Failure Syndromes","IBMFS","Familial Cancer","RECRUITING","2026-06-11",{"date":42,"type":43},"2026-06-12","ACTUAL",{"date":45,"type":43},"2001-11-28",{"name":47,"class":48},"National Cancer Institute (NCI)","NIH",2,{"id":51,"slug":52,"hasResults":11,"nctId":53,"briefTitle":54,"officialTitle":55,"acronym":56,"eligibilityCriteria":57,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":58,"targetDuration":60,"studyType":23,"phases":4,"briefSummary":61,"conditions":62,"keywords":65,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":74,"lastUpdatePostDateStruct":75,"startDateStruct":77,"completionDateStruct":79,"leadSponsor":81,"locationsCount":84},"100520464","shwachman-diamond-syndrome-registry-and-study-100520464","NCT06056908","Shwachman Diamond Syndrome Registry and Study","Shwachman Diamond Syndrome Registry and Study (SDS Registry)","SDSR","Inclusion Criteria: Shwachman Diamond syndrome, Shwachman-Diamond Syndrome-Like conditions, or a genetically undefined condition that shares clinical features with Shwachman Diamond Syndrome.\n\n* Biallelic mutations in SBDS, or pathogenic mutations in DNAJC21, EFL1, or SRP54 OR\n* Shwachman-Diamond Syndrome defined clinically OR\n* Clinically suspected Shwachman-Diamond Syndrome OR\n* Phenotypic features suggestive of SDS OR\n* Parents, siblings, and other blood relatives of any age, living and deceased, of patients with SDS or SDS-Like conditions are eligible for this study\n\nExclusion Criteria:\n\n• Patients with other diagnosed causes of bone marrow failure, exocrine pancreatic insufficiency and cancer predisposition will be excluded.",{"count":59,"type":22},5000,"90 Years","Shwachman-Diamond syndrome (SDS) is a genetic condition characterized by bone marrow failure, medical co-morbidities, and leukemia predisposition. SDS-Like patients share clinical features with SDS but lack mutations in known SDS genes. Since SDS\u002FSDS-Like syndromes are rare diseases, data are sparse regarding the clinical features, natural history, clinical outcomes with current management, and treatment. For this reason, the SDS Registry was formed to collect clinical data from medical records and to bank biological samples with the goal of understanding SDS\u002FSDS-Like diseases to develop better treatments and improve the health of patients with these conditions.",[63,64],"Shwachman-Diamond Syndrome","Shwachman-Diamond Syndrome-Like",[66,67,68,69,70,71,72,73],"Bone marrow failure","Inherited bone marrow failure syndromes","Bone marrow","Neutropenia","Leukemia","MDS","Pancreas","Cancer predisposition","2026-03-31",{"date":76,"type":43},"2026-04-06",{"date":78,"type":43},"2016-01-19",{"date":80,"type":22},"2090-01-01",{"name":82,"class":83},"Boston Children's Hospital","OTHER",4,{"id":86,"slug":87,"hasResults":11,"nctId":88,"briefTitle":89,"officialTitle":90,"acronym":91,"eligibilityCriteria":92,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":93,"targetDuration":95,"studyType":23,"phases":4,"briefSummary":96,"conditions":97,"keywords":124,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":134,"lastUpdatePostDateStruct":135,"startDateStruct":137,"completionDateStruct":139,"leadSponsor":141,"locationsCount":143},"100592939","shwachman-diamond-syndrome-global-patient-survey-and-partnering-platform-100592939","NCT06999954","Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform","The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)","SDS-GPS","Inclusion Criteria:\n\nThe Program invites patients of all ages who have a confirmed diagnosis of the below, using established diagnostic guidelines, plus their parents\u002Fcaregivers.\n\n* Patients with a confirmed Shwachman-Diamond Syndrome (SDS) diagnosis, including a genetic or clinical diagnosis. The initial focus will be on patients with a genetic diagnosis of SDS based on biallelic mutations in SBDS or EFL1.\n* Patients with a confirmed diagnosis of an SDS-like syndrome (e.g. due to mutations in DNAJC21, SRP54, or other genes that may be associated with an SDS-like syndrome in the future).\n* Patients with other heritable hematological malignancy disorders (such as RUNX1-FPD, Fanconi Anemia) and\u002For congenital neutropenias (such as ELANE neutropenia) are also eligible for inclusion.\n* Caregivers, parents, and close relatives of all patients above, including of patients alive or deceased.\n\nExclusion Criteria:\n\n● People who do not meet the above criteria.",{"count":94,"type":22},8000,"120 Years","The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe, secure, and convenient online platform, to\n\n* expand the understanding of SDS\n* improve the lives of people with SDS, and\n* accelerate the development of new therapies and cures for SDS.\n\nBy joining, participants will receive early access to relevant information about new clinical trials and other research opportunities (such as clinical registries) based on their profile, accelerating research and increasing clinical trial impact and recruitment success.\n\nThe platform, consent forms, and surveys are available in five languages: English, Spanish, French, German, and Italian. More languages to come.",[63,98,99,100,101,102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123],"SDS","IBMF","Congenital Neutropenia","Heme Malignancy","Shwachman Syndrome","Inherited Bone Marrow Failure","Exocrine Pancreatic Insufficiency","WHIM","ELANE","SBDS Gene Mutation","EFL1 Gene Mutation","DNAJC21 Gene Mutation","SRP54 Gene Mutation","Inherited Cancer Syndrome","Inherited Cancer-Predisposing Syndrome","Neutropenia, Severe Chronic","Neutropenia Other","Neutropenia Chronic Benign","Ribosome Alteration","Ribosomopathy","Immune Deficiency","Inherited BMF Syndrome","Inherited Immunodeficiency Diseases","Cognitive Delay, Mild","Myelodysplastic Syndromes","Pancytopenia",[63,29,102,98,99,103,100,118,125,126,105,106,127,128,129,130,131,132,133],"SDS-like syndrome","genetic cancer predisposition","SBDS","EFL1","SRP54","DNAJC21","severe chronic neutropenia","exocrine pancreatic insufficiency","ribosomopathy","2025-05-23",{"date":136,"type":43},"2025-05-31",{"date":138,"type":43},"2024-02-07",{"date":140,"type":22},"2088-12",{"name":142,"class":83},"Shwachman-Diamond Syndrome Alliance Inc",1]