About this Study
The NCI IBMFS [glossary term:] Cohort Study consists of affected individuals and their immediate families in North America who have an [glossary term:] inherited bone marrow failure [glossary term:] syndrome (IBMFS)-either one that has been specifically identified and defined, or bone marrow failure that appears to be inherited but has not yet been clearly identified as having a genetic basis.
A cohort is a group of carefully defined and thoroughly evaluated study participants. This cohort is followed over time, with the aim of documenting and analyzing each individual’s medical events.
Our study activities
- collect clinical information from participants and their physicians;
- perform detailed physical examinations and laboratory tests on those who are interested in traveling to the NIH to be seen in person;
- attempt to identify the specific genetic [glossary term:] mutation that is associated with each family's disease;
- screen participants for early changes related to the specific cancers that occur in each syndrome;
- perform detailed laboratory studies on blood and tumors collected from participants to better understand the process by which cancers develop;
- monitor participants in an ongoing fashion to determine the rate at which complications develop related to each disease, and to identify those complications more precisely;
- provide suggestions to participants and their physicians on how best to care for affected family members; and
- offer [glossary term:] genetic counseling and an opportunity to learn the results of mutation testing to those persons who decide that this information would be useful to them.
The most common of the IBMFS are:
- Amegakaryocytic Thrombocytopenia (Amega)
- Diamond-Blackfan Anemia (DBA)
- Dyskeratosis Congenita (DC)
- Fanconi Anemia (FA)
- Pearson Syndrome
- Severe Congenital Neutropenia (SCN)
- Shwachman-Diamond Syndrome (SDS)
- Thrombocytopenia Absent Radii (TBA)
- Other Bone Marrow Failure Syndromes
There are two subgroups of participants in the NCI IBMFS Cohort Study: those who are seen and evaluated at the NIH Clinical Center, and those who participate by providing information and samples of blood, bone marrow, or other tissues as needed, but who are not seen by the NCI team at the NIH.