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Identifying Characteristics of Bone Marrow Failure Syndromes

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified July 2009 by Office of Rare Diseases (ORD).
Recruitment status was:  Active, not recruiting
Rare Diseases Clinical Research Network
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: April 14, 2006
Last updated: April 19, 2010
Last verified: July 2009
Bone marrow failure syndromes (BMFS) are rare disorders characterized by dysfunctional hematopoietic stem cells, which give rise to all red and white blood cells. The deficiency of blood cells, or cytopenia, caused by this malfunction leads to an assortment of diseases and disorders, all of which are characterized as BMFS. Because these diseases are rare, conducting research on them is difficult, and standards of treatment for most BMFS have yet to be developed. This study will collect clinical and laboratory data from people with BMFS to identify the characteristics and biological markers associated with these diseases over time. This information will assist doctors and researchers to develop better therapies and diagnostic tests that will help improve the management of BMFS and cytopenias.

Bone Marrow Failure Syndromes
Anemia, Aplastic
Myelodysplastic Syndromes
Hemoglobinuria, Paroxysmal
Red-Cell Aplasia, Pure
Purpura, Thrombocytopenic
Leukemia, Lymphocytic

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Screening Protocol and Longitudinal Study of Bone Marrow Failure Syndromes and Cytopenias

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Biospecimen Retention:   Samples With DNA
Residual samples from peripheral blood and bone marrow aspiration/biopsies

Estimated Enrollment: 450
Study Start Date: April 2006
Estimated Study Completion Date: July 2009
Estimated Primary Completion Date: July 2009 (Final data collection date for primary outcome measure)
Detailed Description:

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.


Ages Eligible for Study:   11 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with bone marrow failure syndromes

Inclusion Criteria:

  • Diagnosis of one of the following diseases: aplastic anemia; myelodysplastic syndrome; paroxysmal nocturnal hemoglobinuria; idiopathic pure red cell aplasia; amegakaryocytic thrombocytopenia purpura; or large granular lymphocyte leukemia

Exclusion Criteria:

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00315419

United States, California
University of California, Los Angeles, Department of Hematology and Oncology
Los Angeles, California, United States, 90095
United States, Florida
H. Lee Moffitt Cancer Center
Tampa, Florida, United States, 33612
United States, Ohio
Cleveland Clinic Foundation
Cleveland, Ohio, United States, 44195
United States, Pennsylvania
Pennsylvania State University Cancer Center
Hershey, Pennsylvania, United States, 17033
Sponsors and Collaborators
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Study Chair: Jaroslaw P. Maciejewski, MD, PhD The Cleveland Clinic
  More Information

Responsible Party: Jaroslaw Maciejewski, MD, PhD, Cleveland Clinic Foundation Identifier: NCT00315419     History of Changes
Other Study ID Numbers: RDCRN 5401
Study First Received: April 14, 2006
Last Updated: April 19, 2010

Keywords provided by Office of Rare Diseases (ORD):
Large Granular Lymphocyte Leukemia
Amegakaryocytic Thrombocytopenic Purpura
Idiopathic Pure Red Cell Aplasia
Paroxysmal Nocturnal Hemoglobinuria

Additional relevant MeSH terms:
Myelodysplastic Syndromes
Hemoglobinuria, Paroxysmal
Red-Cell Aplasia, Pure
Leukemia, Lymphoid
Anemia, Aplastic
Purpura, Thrombocytopenic
Pathologic Processes
Bone Marrow Diseases
Hematologic Diseases
Precancerous Conditions
Blood Coagulation Disorders
Skin Manifestations
Signs and Symptoms
Anemia, Hemolytic
Neoplasms by Histologic Type
Lymphoproliferative Disorders
Lymphatic Diseases
Immunoproliferative Disorders
Immune System Diseases
Proteinuria processed this record on May 25, 2017