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Understanding Cancer in Inherited Bone Marrow Failure Syndromes

This study is looking at people with Inherited Bone Marrow Failure Syndromes (IBMFS), like Fanconi Anemia, Diamond Blackfan Anemia, and others, to better understand their risk of developing cancer. Researchers want to find out what types of cancers occur, how often they happen, and if there are differences in genetics or environment between those who develop cancer and those who don't. They are also studying family members who carry the gene changes for IBMFS to see their cancer risk. This is an observational study, meaning no specific treatments are being tested. The goal is to gather information over time to help with cancer screening and prevention for these families. The study is ongoing and plans to include up to 4000 participants of all ages and genders.

Study design
This is an observational study that aims to enroll up to 4000 participants. It is designed to follow people with IBMFS and their families over time.
What's involved
Participants will complete questionnaires, have clinical and research evaluations, undergo clinical and research laboratory tests, and have their medical records reviewed. Cancer surveillance will also be part of the study.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed on an ongoing basis to track the cohort of families, compare patient biology with healthy controls, and identify differences between them.

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NCT00027274

Cancer in Inherited Bone Marrow Failure Syndromes

Recruiting
Not specifiedAges 1+Observational
National Cancer Institute (NCI)
~4,000 participants
Updated 2026-08-31 on ClinicalTrials.gov

At a glance

Recruiting sites
2 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Cohort of Families with IBMFS
Measured over Ongoing
+3 more outcomes measured

Conditions

Diamond Blackfan Anemia
Dyskeratosis Congenita
Fanconi Anemia
Shwachman Diamond Syndrome
Inherited Bone Marrow Failure Syndrome, Aplastic Anemia

Explore related trials

Amegakaryocytic thrombocytopeniaDiamond-Blackfan AnemiaDyskeratosis CongenitaFanconi AnemiaInherited Bone Marrow Failure SyndromePearson SyndromeRadial Aplasia-Thrombocytopenia SyndromeSevere Congenital NeutropeniaShwachman-Diamond Syndrome

Where it's being run

2 sites across 1 states
Maryland2

Study leadership

  • Lisa J McReynolds, M.D. · PRINCIPAL_INVESTIGATOR · National Cancer Institute (NCI)

Who to contact

NCI Family Study Referrals
[email protected]
(800) 518-8474
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Fanconi s anemia.
Diamond Blackfan anemia.
Dyskeratosis congenita.
Shwachman Diamond Syndrome.
Amegakaryocytic thrombocytopenia.
Thrombocytopenia absent radii.
Severe Congenital Neutropenia.
Pearson Syndrome.
Other bone marrow failure syndromes.
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 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.
Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
Unwillingness to permit access to medical records and pathology specimens.

Exclusion

Affected: An individual who meets any of the following criteria will be excluded from participation in this study:
Evidence that the hematologic disorder is acquired rather than genetic. Such evidence includes temporal relation of the aplastic anemia to known marrow suppressant drugs, chemicals, toxins, or viruses (in the absence of evidence indicative of an inherited marrow failure disorder).
Known causes of cytopenias such as autoantibodies to red cells, platelets, or neutrophils, viruses (especially hepatitis), micronutrient deficiencies, transient erythroblastopenia of childhood, and cyclic neutropenia.
Assignment of the patient s physical findings to other syndromes or causes that are not part of the IBMFS disease spectrum.
Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
Unwillingness to permit access to medical records and pathology specimens.
Unaffected/Family Members: An individual who meets any of the following criteria will be excluded from participation in this study:

What this trial measures

  • Cohort of Families with IBMFSOngoing

    Establish a cohort of families with IBMFS

  • Biology of Patients Compared with Healthy ControlsOngoing

    Compare biology of IBMFS patients with general populations

  • Differences Between Patients and Healthy ControlsOngoing

    Identify differences between patients with IBMFS who develop cancer and those who don't

  • Risk of Cancer with Specific MutationsOngoing

    Determine risk of cancer in IBMFS patients with specific gene mutations