Clinical trial NCT00315419: Identifying Characteristics of Bone Marrow Failure Syndromes
Official title: Screening Protocol and Longitudinal Study of Bone Marrow Failure Syndromes and Cytopenias
Study type: OBSERVATIONAL
Overall status: UNKNOWN
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
Lead sponsor: Office of Rare Diseases (ORD)
Sponsor class: NIH
Collaborators: name: Rare Diseases Clinical Research Network
First posted: 2006-04-18
Enrollment: 450
Sex: ALL
Minimum age (years): 11
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with bone marrow failure syndromes

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.

Eligibility 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

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: University of California, Los Angeles, Department of Hematology and Oncology
state: California
city: Tampa
country: United States
facility: H. Lee Moffitt Cancer Center
state: Florida
city: Cleveland
country: United States
facility: Cleveland Clinic Foundation
state: Ohio
city: Hershey
country: United States
facility: Pennsylvania State University Cancer Center
state: Pennsylvania
Study officials:
affiliation: The Cleveland Clinic
name: Jaroslaw P. Maciejewski, MD, PhD
role: STUDY_CHAIR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.