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Identifying Characteristics of Bone Marrow Failure Syndromes
This study is currently recruiting participants.
Verified by Office of Rare Diseases (ORD), September 2008
Sponsors and Collaborators: Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Information provided by: Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier: NCT00315419
  Purpose

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.


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

Genetics Home Reference related topics: hemophilia paroxysmal nocturnal hemoglobinuria thrombotic thrombocytopenic purpura
MedlinePlus related topics: Anemia Leukemia, Adult Acute Leukemia, Adult Chronic Leukemia, Childhood Rare Diseases
U.S. FDA Resources
Study Type: Observational
Study Design: Cohort, Prospective
Official Title: Screening Protocol and Longitudinal Study of Bone Marrow Failure Syndromes and Cytopenias

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

Biospecimen Retention:   Samples With DNA

Biospecimen Description:

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.

  Eligibility

Ages Eligible for Study:   11 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Individuals with bone marrow failure syndromes

Criteria

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
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00315419

Contacts
Contact: Susan Sunkle 216-445-2119 sunkles@ccf.org

Locations
United States, California
University of California, Los Angeles, Department of Hematology and Oncology Recruiting
Los Angeles, California, United States, 90095
Principal Investigator: Ronald Paquette, MD            
United States, Florida
H. Lee Moffitt Cancer Center Recruiting
Tampa, Florida, United States, 33612
Principal Investigator: Alan List, MD            
Principal Investigator: P. K. Eppling-Burnette, PhD            
United States, Ohio
Cleveland Clinic Foundation Recruiting
Cleveland, Ohio, United States, 44195
Principal Investigator: Jaroslaw P. Maciejewski, MD, PhD            
Principal Investigator: Mikkael Sekeres, MD            
Principal Investigator: Anjali Advani, MD            
Principal Investigator: Alan Lichtin, MD            
Principal Investigator: Ronald Sobecks, MD            
Principal Investigator: Matt Kalaycio, MD            
Principal Investigator: Brad Pohlman, MD            
Principal Investigator: Brian Bolwell, MD            
United States, Pennsylvania
Pennsylvania State University Cancer Center Active, not recruiting
Hershey, Pennsylvania, United States, 17033
Sponsors and Collaborators
Rare Diseases Clinical Research Network
Investigators
Study Chair: Jaroslaw P. Maciejewski, MD, PhD The Cleveland Clinic
  More Information

Publications:
Responsible Party: Cleveland Clinic Foundation ( Jaroslaw Maciejewski, MD, PhD )
Study ID Numbers: RDCRN 5401, RR19397-03
Study First Received: April 14, 2006
Last Updated: September 2, 2008
ClinicalTrials.gov Identifier: NCT00315419  
Health Authority: United States: Federal Government

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

Study placed in the following topic categories:
Paroxysmal nocturnal hemoglobinuria
Leukemia, Lymphoid
Precancerous Conditions
Pure red cell aplasia
Bone Marrow failure syndromes
Hemostatic Disorders
Purpura, Thrombocytopenic
Red-Cell Aplasia, Pure
Leukemia
Signs and Symptoms
Preleukemia
Thrombocytopenia
Urologic Diseases
Hemoglobinuria, Paroxysmal
Anemia, Aplastic
Myelodysplastic syndromes
Purpura
Large granular lymphocyte leukemia
Immunoproliferative Disorders
Hematologic Diseases
Urination Disorders
Blood Platelet Disorders
Blood Coagulation Disorders
Myelodysplasia
Myelodysplastic Syndromes
Anemia
Anemia, Hemolytic
Pancytopenia
Thrombocytopathy
Hemoglobinuria

Additional relevant MeSH terms:
Skin Manifestations
Urological Manifestations
Neoplasms
Pathologic Processes
Disease
Neoplasms by Histologic Type
Immune System Diseases
Syndrome

ClinicalTrials.gov processed this record on January 16, 2009