Bone Marrow Failure is generally a sign of hematopoietic stem cell (HSC) dysfunction or loss from the bone marrow. The underlying cause in patients is often unknown, and marrow failure in young children especially can be genetic. This continues to impede development of new therapies and has fueled interest among physicians, scientists and patients in deepening our understanding of marrow failure in children and adults.
While seminal discoveries in experimental model systems, such as mice, over the past 20 years have begun to broaden insight, it is often unclear if these observations apply to patients with marrow failure. Specifically, the ability to test patient blood and tissue samples has long been a bottleneck for researchers.
The CHOP Comprehensive Bone Marrow Failure Program has made it part of its mission to offer patients the opportunity to participate in studies that collect blood and tissue to help advance our understanding of bone marrow failure. Collaboratively working with national and international experts in the field, important questions can be addressed directly by collecting, carefully curating and studying samples from patients who come to CHOP or the University of Pennsylvania Hospital for consultation and care.
Since inception in 2010, our Bone Marrow Failure Repository has grown to encompass over 600 primary subjects and in some cases, family members of those subjects. We also have samples from more than 400 family members in the repository. These individuals have enrolled from all over the United States and the world.
The repository collects blood, bone marrow aspirate and sometimes skin samples from enrolled subjects during routine clinic visits. The samples are coded and processed by experienced staff members and made available for research studies. In aggregate, we currently have over 9,000 stored samples in our repository.
Below are some of our most recent publications that rely on data from repository samples.
- Somatic HLA Mutations Expose the Role of Class I-Mediated Autoimmunity in Aplastic Anemia and its Clonal Complications
- Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia
- Germline duplication of ATG2B and GSKIP genes is not required for the familial myeloid malignancy syndrome associated with the duplication of chromosome 14q32.
- Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype.
- IRB Approval Dates-Initial 5/18/2010 Current Approval 11/6/2018
- PI Name Timothy Olson MD/PhD
- Co-investigators Helge Hartung MD
- Coordinator name Peter Nicholas
The CHOP Bone Barrow Failure Center gratefully acknowledges participation by patients, siblings, parents, nurses and laboratory staff in building this critical resource.
Questions regarding the repository should be addressed at 267-426-9889.