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Other DBA Research

Summary of other DBA research


In this section we will provide up-to-date and post-publication/public information on DBA and its treatment. The studies that are neither made public nor published in biomedical journals will not be discussed. This section will be updated quarterly or whenever a significant change takes place (termination of ongoing trials or opening of new ones). The synopses provided in this section are for informational purposes only. We believe that participation in well designed and executed research studies is important in understanding the pathology and treatment of rare diseases such as DBA. However, the listing of a study should not be considered as an endorsement by the Diamond Blackfan Anemia Registry. Please contact your physician if you are considering enrollment in any of these studies.



Biological Studies:

None open for recruitment at this time



Clinical Studies:

The most current information on active clinical trials sponsored by the National Institute of Health can be found on the web site You can search this site for DBA-related trials by clicking here (


Investigators with non-NIH sponsored studies approved by their Institutional Review Boards (IRB) are encouraged to contact the DBAR so their study may be listed.


Other active clinical trials open to patients with DBA:


1. Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias

The purpose of this study is to explore the use of a BMT regimen that, instead of chemotherapy, uses a low dose of radiation, combined with two immunosuppressive drugs. This type BMT procedure is described as non-myeloablative, meaning that it does not destroy the patient s bone marrow. It is hoped that this type of BMT will be safe for patients normally excluded from the procedure because of their age and other reasons.


To participate in this study, patients must be between the ages of 18 and 65 and have a sibling who is a well-matched stem cell donor. Beyond the standard SCT protocol, study participants will undergo additional procedures. The donor will receive G-CSF by injection for five days; then his or her peripheral stem cells will be collected and frozen one month prior to SCT. Approximately one month later, the patient will be given two immune-suppressing drugs, Campath 1-H and Sirolimus, as well as a single low dose of total body irradiation and then the cells from the donor will be infused.


2. Cancer in Inherited Bone Marrow Failure Syndromes (IBMFS)

The objectives of this study are to:

  • To determine the types and incidence of specific cancers in patients with an IBMFS.

  • To investigate the relevance of IBMFS gene mutations in the carcinogenesis pathway of the sporadic counterparts of IBMFS-associated cancers.

  • To identify risk factors for IBMFS-related cancers in addition to the primary germline mutations.

  • To determine the risk of cancer in IBMFS carriers.


Eligibility includes North American families with a proband with an IBMFS. IBMFS suspected by phenotype, confirmed by mutation in an IBMFS gene, or by clinical diagnostic test are eligible.

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