Identifying Characteristics of Bone Marrow Failure Syndromes

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

• Registration Number: NCT00315419
• Lead Sponsor: Office of Rare Diseases (ORD)

Brief Summary

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.

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.

Study Timeline

• Study Start: 2006-04
• Study First Submitted: 2006-04-14
• Study First Submitted QC: 2006-04-14
• Study First Posted: 2006-04-18
• Status Verified: 2009-07
• Primary Completion: 2009-07
• Study Completion: 2009-07
• Last Update Submitted: 2010-04-19
• Last Update Posted: 2010-04-21

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 450

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

• N/A

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (4)

H. Lee Moffitt Cancer Center; 🇺🇸 Tampa, Florida, United States

Cleveland Clinic Foundation; 🇺🇸 Cleveland, Ohio, United States

University of California, Los Angeles, Department of Hematology and Oncology; 🇺🇸 Los Angeles, California, United States

Pennsylvania State University Cancer Center; 🇺🇸 Hershey, Pennsylvania, United States