Understanding cancer risks in inherited bone marrow failure syndromes
Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study
This study is trying to understand the cancer risks in people with inherited bone marrow failure syndromes to help improve screening and prevention for families at risk.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 4000 (estimated) |
| Ages | 1 Day to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 2 sites (Bethesda, Maryland and 1 other locations) |
| Trial ID | NCT00027274 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on patients with inherited bone marrow failure syndromes (IBMFS) to gather data on cancer rates and types associated with these conditions. It aims to identify genetic and environmental factors that differentiate cancer-prone individuals from those who do not develop cancer. The study involves a prospective cohort, utilizing questionnaires, clinical evaluations, laboratory tests, and medical record reviews to assess cancer incidence and risk factors. The primary focus is on disorders like Fanconi Anemia, Diamond Blackfan Anemia, and others, to enhance cancer screening and prevention strategies for at-risk families.
Who should consider this trial
Good fit: Ideal candidates include individuals affected by or at risk of inherited bone marrow failure syndromes, such as Fanconi Anemia and Diamond Blackfan Anemia.
Not a fit: Patients without any inherited bone marrow failure syndromes or those not at risk of carrying the associated genetic variants may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved cancer screening and prevention strategies for patients with inherited bone marrow failure syndromes.
How similar studies have performed: While this study builds on existing knowledge of cancer risks in genetic syndromes, it employs a novel approach by focusing specifically on the natural history of inherited bone marrow failure syndromes.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: 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: * 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 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: * 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. 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: * If there is no affected individual in the family who meets the inclusion criteria * 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.
Where this trial is running
Bethesda, Maryland and 1 other locations
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
- National Cancer Institute - Shady Grove — Rockville, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Lisa J McReynolds, M.D. — National Cancer Institute (NCI)
- Study coordinator: NCI Family Study Referrals
- Email: ncifamilystudyreferrals@mail.nih.gov
- Phone: (800) 518-8474
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.