Ignite Creation Date:
2024-05-05 @ 11:24 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00027274
Status:
RECRUITING
Last Update Posted:
2024-07-09
First Post:
2001-11-29
Brief Title:
Cancer in Inherited Bone Marrow Failure Syndromes
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes A Natural History Study
Status:
RECRUITING
Status Verified Date:
2024-10-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Background
A prospective cohort of Inherited Bone Marrow Failure Syndrome IBMFS will provide new information regarding cancer rates and types in these disorders
Pathogenic variants in IBMFS genes are relevant to carcinogenesis in sporadic cancers
Patients with IBMFS who develop cancer differ in their genetic andor 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 variants are at increased risk of cancer
The prototype disorder is Fanconis 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 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 variants
To determine the risk of cancer in IBMFS carriers
Eligibility
North American families with a proband with an IBMFS
IBMFS suspected by phenotype confirmed by pathogenic variants in an IBMFS gene or by clinical diagnostic test
Fanconis 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
Pearsons Syndrome malabsorption neutropenia marrow failure metabolic acidosis ringed sideroblasts
Other bone marrow failure syndromes eg Revesz Syndrome WT IVIC radio-ulnar synostosis ataxia-pancytopenia
First degree relatives of IBMFS-affected subjects as defined here ie 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 eg smoking drinking HPV
Design
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
A prospective cohort of Inherited Bone Marrow Failure Syndrome IBMFS will provide new information regarding cancer rates and types in these disorders
Pathogenic variants in IBMFS genes are relevant to carcinogenesis in sporadic cancers
Patients with IBMFS who develop cancer differ in their genetic andor 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 variants are at increased risk of cancer
The prototype disorder is Fanconis 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 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 variants
To determine the risk of cancer in IBMFS carriers
Eligibility
North American families with a proband with an IBMFS
IBMFS suspected by phenotype confirmed by pathogenic variants in an IBMFS gene or by clinical diagnostic test
Fanconis 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
Pearsons Syndrome malabsorption neutropenia marrow failure metabolic acidosis ringed sideroblasts
Other bone marrow failure syndromes eg Revesz Syndrome WT IVIC radio-ulnar synostosis ataxia-pancytopenia
First degree relatives of IBMFS-affected subjects as defined here ie 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 eg smoking drinking HPV
Design
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
Detailed Description:
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 variants 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 andor 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 variants 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 variants
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
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 variants 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 andor 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 variants 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 variants
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 02-C-0052 | None | None | None |