Identifying Characteristics of Bone Marrow Failure Syndromes

NCT00315419 | Unknown

• 2 other identifiers: RDCRN 5401RR19397-03
• Study Type: observational
• Target: 450
• Locations: 1 country
• Sites: 4

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.

Conditions

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

Keywords

Large Granular Lymphocyte Leukemia; Amegakaryocytic Thrombocytopenic Purpura; Idiopathic Pure Red Cell Aplasia; Paroxysmal Nocturnal Hemoglobinuria

Eligibility Criteria

• Age: 11 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with bone marrow failure syndromes

You may qualify if:

• 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

You may not qualify if:

• N/A

Sponsors & Collaborators

• Office of Rare Diseases (ORD): lead
• Rare Diseases Clinical Research Network: collaborator

Study Sites (4)

University of California, Los Angeles, Department of Hematology and Oncology

Los Angeles, California, 90095, United States

Location

H. Lee Moffitt Cancer Center

Tampa, Florida, 33612, United States

Location

Cleveland Clinic Foundation

Cleveland, Ohio, 44195, United States

Location

Pennsylvania State University Cancer Center

Hershey, Pennsylvania, 17033, United States

Location

Related Publications (5)

• Young NS. Immunosuppressive treatment of acquired aplastic anemia and immune-mediated bone marrow failure syndromes. Int J Hematol. 2002 Feb;75(2):129-40. doi: 10.1007/BF02982017.

  PMID: 11939258 BACKGROUND

• Plasilova M, Risitano A, Maciejewski JP. Application of the molecular analysis of the T-cell receptor repertoire in the study of immune-mediated hematologic diseases. Hematology. 2003 Jun;8(3):173-81. doi: 10.1080/1024533031000107505.

  PMID: 12745651 BACKGROUND

• Frickhofen N, Heimpel H, Kaltwasser JP, Schrezenmeier H; German Aplastic Anemia Study Group. Antithymocyte globulin with or without cyclosporin A: 11-year follow-up of a randomized trial comparing treatments of aplastic anemia. Blood. 2003 Feb 15;101(4):1236-42. doi: 10.1182/blood-2002-04-1134. Epub 2002 Oct 10.

  PMID: 12393680 BACKGROUND

• Molldrem JJ, Leifer E, Bahceci E, Saunthararajah Y, Rivera M, Dunbar C, Liu J, Nakamura R, Young NS, Barrett AJ. Antithymocyte globulin for treatment of the bone marrow failure associated with myelodysplastic syndromes. Ann Intern Med. 2002 Aug 6;137(3):156-63. doi: 10.7326/0003-4819-137-3-200208060-00007.

  PMID: 12160363 BACKGROUND

• Sloand E, Kim S, Maciejewski JP, Tisdale J, Follmann D, Young NS. Intracellular interferon-gamma in circulating and marrow T cells detected by flow cytometry and the response to immunosuppressive therapy in patients with aplastic anemia. Blood. 2002 Aug 15;100(4):1185-91. doi: 10.1182/blood-2002-01-0035.

  PMID: 12149196 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Residual samples from peripheral blood and bone marrow aspiration/biopsies

MeSH Terms

Conditions

Bone Marrow Failure Disorders; Anemia, Aplastic; Myelodysplastic Syndromes; Hemoglobinuria, Paroxysmal; Red-Cell Aplasia, Pure; Purpura, Thrombocytopenic; Leukemia, Lymphoid; Leukemia, Large Granular Lymphocytic

Condition Hierarchy (Ancestors)

Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Anemia; Anemia, Hemolytic; Purpura; Blood Coagulation Disorders; Thrombotic Microangiopathies; Thrombocytopenia; Blood Platelet Disorders; Cytopenia; Immune System Diseases; Hemorrhage; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Skin Manifestations; Signs and Symptoms; Leukemia; Neoplasms by Histologic Type; Neoplasms; Lymphoproliferative Disorders; Lymphatic Diseases; Immunoproliferative Disorders; Leukemia, T-Cell

Study Officials

• Jaroslaw P. Maciejewski, MD, PhD

  The Cleveland Clinic

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH

Study Record Dates

• First Submitted: April 14, 2006
• First Posted: April 18, 2006
• Study Start: April 1, 2006
• Primary Completion: July 1, 2009
• Study Completion: July 1, 2009
• Last Updated: April 21, 2010

Record last verified: 2009-07

Locations

US (4)