National Cancer Institute

Inherited Bone Marrow Failure Syndrome Study 

The goal of this study is to reach a better understanding of how cancers develop in persons with inherited bone marrow failure syndromes (IBMFS), including DBA syndrome, so that health care can be improved for persons with these disorders. This study assesses the epidemiology and natural history of patients with DBA syndrome or other IBMFS and their families. IBMFS are rare disorders in which there is usually some form of aplastic anemia (failure of the bone marrow to produce blood cells) associated with a family history of the same disorder. Some of these conditions have typical changes in physical appearance or laboratory findings which suggest a specific diagnosis. There are several well-described syndromes, which can be recognized by health care experts. There are also patients who are harder to classify, but who appear to belong in this category.

Patients with these syndromes have a very high risk of developing cancer (either leukemia or certain solid tumors). At the moment we cannot predict which patients with IBMFS are going to develop cancer. There have been many medical advances as a result of the study, including the identification of several new genetic causes of IBMFS. The NCI IBMFS Study is continuing to enroll North American families in which at least one member has or had an IBMFS. Study activities include:

  • collecting clinical information from participants and their physicians;
  • performing physical examinations and laboratory tests on participants who come to the NIH;
  • attempting to identify the specific genetic variant associated with each family's disease;
  • performing research studies on blood, bone marrow, and tumors collected from participants;
  • monitoring participants to determine the rate at which complications develop, so we may identify those complications more precisely;
  • advising participants and their physicians on how best to care for affected family members;
  • offering genetic counseling and an opportunity to learn the results of genetic testing.

The Principal Investigator responsible for this study is Neelam Giri, MD, MBBS. For further information regarding her credentials and experience, please see: https://dceg.cancer.gov/about/staff-directory/giri-neelam

To enroll or inquire about this study, please call 1-800-518-8474 or send an email to NCIFamilyStudyReferrals@nih.gov

 

For more information, please visit:
http://www.marrowfailure.cancer.gov/