Cancer in Inherited Bone Marrow Failure Syndromes : Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study
Study Description:This is a natural history study involving questionnaires, clinical and research evaluations, clinical and research laboratory tests, review of medical records, cancer surveillance. A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers.This study will determine whether patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer.These cancer-prone families are well suited for cancer screening and prevention trials targeting those at increased genetic risk of cancer.Carriers of IBMFS gene pathogenic variant(s) are at increased risk of cancer.The prototype disorder is Fanconi Anemia (FA); other IBMFS will also be studied.Objectives:To determine the types and incidence of specific cancers in patients with an IBMFS.To investigate the relevance of IBMFS gene pathogenic variants in the carcinogenesis pathway of the sporadic counterparts of IBMFS-associated cancers.To identify risk factors for IBMFS-related cancers in addition to the primary germline pathogenic variant(s).To determine the risk of cancer in IBMFS carriers.Endpoints:Primary Endpoint:-All cancers, solid tumors, and cancers specific to each type of IBMFS.Secondary Endpints:-Secondary 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..
Medienart: |
Klinische Studie |
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Erscheinungsjahr: |
2024 |
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Erschienen: |
2024 |
Enthalten in: |
ClinicalTrials.gov - (2024) vom: 09. Apr. Zur Gesamtaufnahme - year:2024 |
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Sprache: |
Englisch |
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Links: |
Volltext [kostenfrei] |
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Anmerkungen: |
Source: Link to the current ClinicalTrials.gov record., First posted: November 30, 2001, Last downloaded: ClinicalTrials.gov processed this data on April 17, 2024, Last updated: April 17, 2024 |
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fisyears: |
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Förderinstitution / Projekttitel: |
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PPN (Katalog-ID): |
CTG00006923X |
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245 | 1 | 0 | |a Cancer in Inherited Bone Marrow Failure Syndromes |b Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study |
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520 | |a Study Description:This is a natural history study involving questionnaires, clinical and research evaluations, clinical and research laboratory tests, review of medical records, cancer surveillance. A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers.This study will determine whether patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer.These cancer-prone families are well suited for cancer screening and prevention trials targeting those at increased genetic risk of cancer.Carriers of IBMFS gene pathogenic variant(s) are at increased risk of cancer.The prototype disorder is Fanconi Anemia (FA); other IBMFS will also be studied.Objectives:To determine the types and incidence of specific cancers in patients with an IBMFS.To investigate the relevance of IBMFS gene pathogenic variants in the carcinogenesis pathway of the sporadic counterparts of IBMFS-associated cancers.To identify risk factors for IBMFS-related cancers in addition to the primary germline pathogenic variant(s).To determine the risk of cancer in IBMFS carriers.Endpoints:Primary Endpoint:-All cancers, solid tumors, and cancers specific to each type of IBMFS.Secondary Endpints:-Secondary 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. | ||
650 | 2 | |a Shwachman-Diamond Syndrome | |
650 | 2 | |a Fanconi Syndrome | |
650 | 2 | |a Anemia | |
650 | 2 | |a Anemia, Aplastic | |
650 | 2 | |a Fanconi Anemia | |
650 | 2 | |a Bone Marrow Failure Disorders | |
650 | 2 | |a Pancytopenia | |
650 | 2 | |a Hemoglobinuria, Paroxysmal | |
650 | 2 | |a Anemia, Diamond-Blackfan | |
650 | 2 | |a Dyskeratosis Congenita | |
650 | 2 | |a Congenital Bone Marrow Failure Syndromes | |
650 | 2 | |a Syndrome | |
650 | 4 | |a Study Type: Observational | |
650 | 4 | |a Recruitment Status: Recruiting | |
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