The National Cancer Institute (NCI) is launching the largest North American study of its kind to focus on people with rare inherited bone marrow failure syndromes (IBMFS) and their immediate family members. This study, called the “NCI IBMFS Cohort”, will follow families over a long period of time. It will study the underlying genetic disorders of those diagnosed with IBMFS, and their families, and analyze how certain factors can affect the course of these syndromes.
Participants may include previously, or newly-diagnosed, affected individuals, their immediate family members, and surviving relatives of a patient who has died, since they may be carriers of one of the altered genes related to these diseases.
IBMFS are most often diagnosed during childhood. They are relatively rare disorders that involve some form of aplastic anemia, in which the bone marrow fails to produce healthy blood cells. People with these syndromes are at increased risk for cancers such as leukemia or various specific solid tumors.
The study will enroll families in which at least one member has, or has had, an IBMFS such as: Fanconi’s anemia, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, dyskeratosis congenita, severe congenital neutropenia, thrombocytopenia absent radii, amegakaryocytic thrombocytopenia, Pearson’s syndrome, aplastic anemia and bone marrow failure other than acquired.
The study will investigate why cancer develops in so many people with IBMFS, why it occurs earlier than in the general population, and the role of the IBMFS genes. The principal investigator at NCI is Blanche Alter, MD, MPH. For additional information, call (800) 518-8474 to speak to Lisa Leathwood, the research nurse, or send an e-mail to: lisaleathwood@westat.com. Information is also provided on the study web site: http://marrowfailure.cancer.gov.
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