Trial Information

Screening Protocol and Longitudinal Study of Bone Marrow Failure Syndromes and Cytopenias

BMFS result from hematopoietic progenitor or stem cell failure within the bone marrow.
Specific causes of this problem, however, have been difficult to identify, as BMFS occur
sporadically. For the same reason, few studies have been conducted to find out more about
these diseases and to develop more appropriate and effective therapies. Aplastic anemia (AA)
is the most common of all BMFS. Other types of BMFS include the following: myelodysplastic
syndrome (MDS); paroxysmal nocturnal hemoglobinuria (PNH); pure red cell aplasia (PRCA);
amegakaryocytic thrombocytopenic purpura (ATP); and large granular lymphocyte leukemia (LGL
leukemia). Though AA is the most common of the BMFS, all BMFS are closely related in terms
of their symptoms and characteristics. This study will collect clinical and laboratory data
from people with BMFS to identify the characteristics and biological markers specific to
each disease as it evolves. This information will assist doctors and researchers to devise
better therapies and diagnostic tests that will help improve the management of BMFS and
cytopenias.

Participants in this observational study will report to the study site for an initial
screening visit, followed by study visits every 6 months for at least 5 years. At each
visit, participants will be interviewed and examined by a physician. Laboratory tests,
including blood collection and a bone marrow aspirate, will also be performed. Data
collected for this study's database will be used to determine the prevalence of clinical
events and laboratory abnormalities over the course of disease, to study the evolution of
disease parameters and symptoms, and to evaluate current therapies and diagnostic tests.