An observational study in Diamond Blackfan Anemia, Dyskeratosis Congenita and Fanconi Anemia, sponsored by National Cancer Institute (NCI). Recruiting at 2 sites in United States. Open to participants aged 1 Day to 100 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-11-09.
Sponsored by National Cancer Institute (NCI) · Observational
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.
56 studies on the registry are indexed under Anemia, Diamond-Blackfan; 10 are open to participants now.
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All families with a member who has one of the relevant syndromes.
The 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/ethnic groups are eligible.
INCLUSION CRITERIA for Patients:
Family Members of IBMFS - Affected Subjects:
-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).
Patients in the general population:
-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.
EXCLUSION CRITERIA:
-Affected: An individual who meets any of the following criteria will be excluded from participation in this study:
There are no other exclusion parameters not related to the primary disease.
-Unaffected/Family Members: An individual who meets any of the following criteria will be excluded from participation in this study:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Platelets
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
All families with a member who has one of the relevant syndromes.
Cohort of Families with IBMFS
Establish a cohort of families with IBMFS
Time frame: Ongoing
Biology of Patients Compared with Healthy Controls
Compare biology of IBMFS patients with general populations
Time frame: Ongoing
Differences Between Patients and Healthy Controls
Identify differences between patients with IBMFS who develop cancer and those who don't
Time frame: Ongoing
Risk of Cancer with Specific Mutations
Determine risk of cancer in IBMFS patients with specific gene mutations
Time frame: Ongoing
Started Nov 2001 (actual).
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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