Cancer in Inherited Bone Marrow Failure Syndromes
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|ClinicalTrials.gov Identifier: NCT00027274|
Recruitment Status : Recruiting
First Posted : November 30, 2001
Last Update Posted : January 25, 2023
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.
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 pathogenic variant(s) are at increased risk of cancer.
The prototype disorder is Fanconi's Anemia (FA); other IBMFS will also be studied.
To determine the types and incidence of specific cancers in patients with an IBMFS.
To investigate the relevance of IBMFS pathogenic variant(s) 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.
North American families with a proband with an IBMFS.
IBMFS suspected by phenotype, confirmed by pathogenic variant(s) in an IBMFS gene, or by clinical diagnostic test.
Fanconi's anemia: birth defects, marrow failure, early onset malignancy; positive chromosome breakage result.
Diamond-Blackfan anemia: pure red cell aplasia; elevated red cell adenosine deaminase.
Dyskeratosis congenita: dysplastic nails, lacey pigmentation, leukoplakia; marrow failure.
Shwachman-Diamond Syndrome: malabsorption; neutropenia.
Amegakaryocytic thrombocytopenia: early onset thrombocytopenia.
Thrombocytopenia absent radii: absent radii; early onset thrombocytopenia.
Severe Congenital Neutropenia: neutropenia, pyogenic infections, bone marrow maturation arrest.
Pearson's Syndrome: malabsorption, neutropenia, marrow failure, metabolic acidosis; ringed sideroblasts.
Other bone marrow failure syndromes: e.g. Revesz Syndrome, WT, IVIC, radio-ulnar synostosis, ataxia-pancytopenia.
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.
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 (e.g. smoking, drinking, HPV).
Natural history study, with questionnaires, clinical evaluations, clinical and research laboratory test, review of medical records, cancer surveillance.
Primary endpoints are all cancers, solid tumors, and cancers specific to each type of IBMFS.
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..
|Condition or disease|
|Diamond Blackfan Anemia Dyskeratosis Congenita Fanconi Anemia Shwachman Diamond Syndrome Inherited Bone Marrow Failure Syndrome, Aplastic Anemia|
|Study Type :||Observational|
|Estimated Enrollment :||4000 participants|
|Official Title:||Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study|
|Actual Study Start Date :||November 28, 2001|
All families with a member who has one of the relevant syndromes.
- Cohort of Families with IBMFS [ Time Frame: Ongoing ]Establish a cohort of families with IBMFS
- Biology of Patients Compared with Healthy Controls [ Time Frame: Ongoing ]Compare biology of IBMFS patients with general populations
- Differences Between Patients and Healthy Controls [ Time Frame: Ongoing ]Identify differences between patients with IBMFS who develop cancer and those who don't
- Risk of Cancer with Specific Mutations [ Time Frame: Ongoing ]Determine risk of cancer in IBMFS patients with specific gene mutations
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00027274
|Contact: Stephanie M Steinbart, R.N.||(800) email@example.com|
|Contact: Neelam Giri, M.D.||(240) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|National Cancer Institute - Shady Grove||Recruiting|
|Rockville, Maryland, United States, 20850|
|Principal Investigator:||Neelam Giri, M.D.||National Cancer Institute (NCI)|