Fanconi Anemia Clinical Trial
Official title:
Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study
Background: 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. Objectives: 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. Eligibility: 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). 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....
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. ;
Status | Clinical Trial | Phase | |
---|---|---|---|
Completed |
NCT02931071 -
Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1
|
Phase 2 | |
Terminated |
NCT01319851 -
Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
|
N/A | |
Recruiting |
NCT00084695 -
Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases
|
Phase 2 | |
Completed |
NCT00000603 -
Cord Blood Stem Cell Transplantation Study (COBLT)
|
Phase 2 | |
Recruiting |
NCT05687474 -
Baby Detect : Genomic Newborn Screening
|
||
Recruiting |
NCT01146210 -
Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia
|
N/A | |
Completed |
NCT01082133 -
Multicenter Transplant Study for Fanconi Anemia
|
Phase 2 | |
Completed |
NCT00965666 -
Pilot Study of Etanercept (Enbrel) in Children With Fanconi Anemia
|
Early Phase 1 | |
Terminated |
NCT00290628 -
Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
|
N/A | |
Terminated |
NCT01001598 -
Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
|
Phase 1/Phase 2 | |
Recruiting |
NCT03206086 -
Eltrombopag for People With Fanconi Anemia
|
Phase 2 | |
Recruiting |
NCT03579875 -
Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders
|
Phase 2 | |
Recruiting |
NCT05598515 -
Time-restricted Feeding to Reduce Inflammation in Fanconi Anemia
|
N/A | |
Active, not recruiting |
NCT03476330 -
Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia
|
Phase 2 | |
Terminated |
NCT05910853 -
Whole Blood Biospecimen Collection for Subjects With Fanconi Anemia
|
||
Completed |
NCT03609840 -
Study of Thiotepa and TEPA Drug Exposure in Pediatric Hematopoietic Stem Cell Transplant Patients
|
||
Completed |
NCT00479115 -
Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100
|
Phase 1/Phase 2 | |
Completed |
NCT00352976 -
TBI Dose De-escalation for Fanconi Anemia
|
Phase 2/Phase 3 | |
Terminated |
NCT03600909 -
A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia
|
Phase 2 | |
Completed |
NCT03398824 -
Pilot Study of Metformin for Patients With Fanconi Anemia
|
Phase 2 |