Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.
Adrianna Vlachos, Philip S Rosenberg, Eva Atsidaftos...
https://pubmed.ncbi.nlm.nih.gov/22362038Actively Recruiting
Age: 1Day - 100Years
All Genders
Healthy Volunteers
ID00027274
Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes Natural History Study
Led by National Cancer Institute (NCI) · Updated on 2026-06-05
4000
Participants Needed
2
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying Inherited Bone Marrow Failure Syndromes (IBMFS), including Fanconi Anemia and others, to understand the types and rates of cancer in these conditions. The study aims to identify how genetic changes in IBMFS contribute to cancer development, differences between patients who develop cancer and those who do not, and cancer risks for carriers of IBMFS gene variants. This natural history study helps provide important information for cancer screening and prevention in families at higher genetic risk. The study involves families with members affected by IBMFS, including patients and their relatives such as siblings, parents, and grandparents. It collects information through questionnaires, clinical and research evaluations, laboratory tests, medical record reviews, and ongoing cancer surveillance. Participants include those with confirmed IBMFS diagnoses or those suspected based on symptoms or genetic tests, as well as individuals from the general population with certain cancers but without usual risk factors. Participants will undergo regular assessments including clinical exams, laboratory tests, and reviews of medical history to monitor cancer development and related conditions. Researchers will measure outcomes such as the occurrence of all cancers, solid tumors, and cancers specific to each IBMFS type, along with markers of pre-cancerous conditions. This ongoing study aims to better understand cancer risks and biology in IBMFS and carriers, with involvement lasting as long as participants remain in the cohort and continue follow-up.
CONDITIONS
Brief Title
Cancer in Inherited Bone Marrow Failure Syndromes
Who Can Participate
Age: 1Day - 100Years
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Participants affected by an Inherited Bone Marrow Failure Syndrome (IBMFS) or family members at risk or carriers
- Equal numbers of male and female participants, except in rare X-linked cases
- All racial and ethnic groups are eligible
- Age range from birth to elderly, including grandparents of affected individuals
- Diagnosed with Fanconi anemia, Diamond Blackfan anemia, Dyskeratosis congenita, Shwachman Diamond Syndrome, Amegakaryocytic thrombocytopenia, Thrombocytopenia absent radii, Severe Congenital Neutropenia, Pearson Syndrome, or other bone marrow failure syndromes
- First degree relatives (siblings, parents, children) and grandparents of affected individuals
- Patients from the general population with certain cancers but no usual risk factors, evaluated for IBMFS
You will not qualify if you...
- Evidence that the blood disorder is acquired, not inherited (e.g., due to drugs, toxins, viruses)
- Known causes of low blood cell counts unrelated to IBMFS, such as autoantibodies, infections, nutrient deficiencies, or cyclic neutropenia
- Physical findings explained by other syndromes not related to IBMFS
- Inability or unwillingness to provide informed consent
- Unwillingness to allow access to medical records and pathology specimens
- Family members excluded if no affected individual meets inclusion criteria
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Surveillance
Duration - Ongoing throughout participation
Participants undergo cancer surveillance and clinical, laboratory, and research evaluations to monitor for cancer development and study disease progression.
Periodic visits depending on clinical needs
Long-term Monitoring
Duration - Ongoing for the duration of the study
Participants are followed long-term to collect data on cancer incidence, genetic and environmental risk factors, and markers of pre-malignant conditions.
Visits scheduled as needed for assessments and data collection
Trial Site Locations
Total: 2 locations
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
2
National Cancer Institute - Shady Grove
Rockville, Maryland, United States, 20850
Actively Recruiting
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Research Team
N
NCI Family Study Referrals
L
Lisa J McReynolds, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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Husam Qanash, Yongqin Li, Richard H Smith...
https://pubmed.ncbi.nlm.nih.gov/33810313