Symptoms and General Pathology

All Conditions

Blood and Lymph Conditions

Neoplasms

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Immune System Diseases

Heart and Blood Diseases

Rare Diseases

Syndrome

Anemia

Leukemia

Anemia, Aplastic

Cytopenia

Preleukemia

Myelodysplastic Syndromes

Hemoglobinuria

Hemoglobinuria, Paroxysmal

Bone Marrow Failure Disorders

Pancytopenia

Red-Cell Aplasia, Pure

Purpura

Purpura, Thrombocytopenic

Leukemia, Large Granular Lymphocytic

Leukemia, Lymphoid

Neoplasms by Histologic Type

Hematologic Diseases

Bone Marrow Diseases

Hemostatic Disorders

Blood Coagulation Disorders

Hemorrhage

Skin Manifestations

Proteinuria

Urination Disorders

Urologic Diseases

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Male Urogenital Diseases

Urological Manifestations

Lymphoproliferative Disorders

Lymphatic Diseases

Immunoproliferative Disorders

Hemolysis

Anemia, Hemolytic

Thrombotic Microangiopathies

Thrombocytopenia

Blood Platelet Disorders

Paroxysmal Nocturnal Hemoglobinuria

Pure Red Cell Aplasia

Acquired Pure Red Cell Aplasia

Aggressive NK Cell Leukemia

Jaroslaw P. Maciejewski, MD, PhD

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.

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.

Residual samples from peripheral blood and bone marrow aspiration/biopsies

Identifying Characteristics of Bone Marrow Failure Syndromes

Screening Protocol and Longitudinal Study of Bone Marrow Failure Syndromes and Cytopenias

Rare Diseases Clinical Research Network

Office of Rare Diseases (ORD)

Jaroslaw Maciejewski, MD, PhD

Infections

Multiple Myeloma

Neoplasms, Plasma Cell

Lymphoma

Precursor Cell Lymphoblastic Leukemia-Lymphoma

Leukemia, Myeloid

Leukemia, Myeloid, Acute

Leukemia, Lymphocytic, Chronic, B-Cell

Leukemia, Myelogenous, Chronic, BCR-ABL Positive

Lymphoma, Mantle-Cell

Lymphoma, Follicular

Lymphoma, B-Cell, Marginal Zone

Hodgkin Disease

Leukemia, Prolymphocytic

Lymphoma, B-Cell

Burkitt Lymphoma

Waldenstrom Macroglobulinemia

Myeloproliferative Disorders

Chronic Disease

Disease Attributes

Communicable Diseases

Epstein-Barr Virus Infections

Virus Diseases

Herpesviridae Infections

DNA Virus Infections

Tumor Virus Infections

Lymphoma, Non-Hodgkin

Myeloid Leukemia

Acute Myeloid Leukemia

Lymphosarcoma

Acute Lymphoblastic Leukemia

Lymphoblastic Lymphoma

Chronic Graft Versus Host Disease

Acute Non Lymphoblastic Leukemia

Chronic Lymphocytic Leukemia

Chronic Myeloid Leukemia

Mantle Cell Lymphoma

Follicular Lymphoma

B-cell Lymphoma

Marginal Zone Lymphoma

Hodgkin Lymphoma

Acute Graft Versus Host Disease

Chronic Myeloproliferative Disorders

Antineoplastic Agents

Antirheumatic Agents

All Drugs and Chemicals

Cyclophosphamide

Fludarabine

Fludarabine phosphate

Immunosuppressive Agents

Immunologic Factors

Antineoplastic Agents, Alkylating

Alkylating Agents

This is a treatment guideline for HLA-Haploidentical hematopoietic stem cell transplant (HSCT) using a reduced intensity conditioning (RIC) regimen. This regimen consists of fludarabine, cyclophosphamide and low dose total body irradiation (TBI).

Fludarabine 30 mg/m2 IV over 30-60 minutes on days -6 through -2 before transplant.

Cyclophosphamide 14.5 mg/kg IV over 1-2 hours on days -6 and -5 before transplant and Cyclophosphamide 50 mg/kg IV on days 3 and 4 post-transplant.

Total Body Irradiation

Haploidentical stem cell transplant

Claudio Brunstein, MD

This is a treatment guideline for HLA-Haploidentical hematopoietic stem cell transplant (HSCT) using a reduced intensity conditioning (RIC) regimen. This regimen, consisting of fludarabine, cyclophosphamide and low dose total body irradiation (TBI), is designed for the treatment of patients with advanced and/or high risk diseases.

Reduced Intensity Conditioning and Haploidentical Related Bone Marrow for Patients With Hematologic Diseases

Reduced Intensity Conditioning (RIC) and Transplantation of HLA(Human Leukocyte Antigen)-Haploidentical Related Bone Marrow (Haplo-BM) For Patients With Hematologic Diseases

Percentage of patients that survive 2 years post-transplant

Engraftment is defined as absolute neutrophil count (ANC) ≥ 5 X 10\^8/L for 3 consecutive measurements.

Number of patients with chimerism at day 100, 6 months and 1 year

Masonic Cancer Center, University of Minnesota

This is a treatment guideline for HLA-Haploidentical hematopoietic stem cell transplant (HSCT) using a reduced intensity conditioning (RIC) regimen. This regimen consists of fludarabine, cyclophosphamide and low dose total body irradiation (TBI).

Fludarabine: Fludarabine 30 mg/m2 IV over 30-60 minutes on days -6 through -2 before transplant.

Cyclophosphamide: Cyclophosphamide 14.5 mg/kg IV over 1-2 hours on days -6 and -5 before transplant and Cyclophosphamide 50 mg/kg IV on days 3 and 4 post-transplant.

Total Body Irradiation: TBI 200cGy on day -1 before transplant.

Haploidentical stem cell transplant: Non-T-cell depleted bone marrow infusion

Haploidentical Stem Cell Transplant

Age, Categorical

Age, Continuous

Sex: Female, Male

Ethnicity (NIH/OMB)

Race (NIH/OMB)

United States

Region of Enrollment

Dr. Claudio Brunstein

2 Year Survival

Number of Patients With Hematopoietic Engraftment

Chimerism at 6 months and 1 year not evaluated

Number of Patients With Chimerism

Number of Patients Experiencing Acute Graft-versus-host Disease by 100 Days

Data were not collected for this Outcome Measure as both participants died by the 6 month time point

Number of Patients Experiencing Chronic Graft-versus-host Disease by 1 Year

Number of Patients Experiencing Transplant Related Mortality (TRM)

This is a treatment guideline for HLA-Haploidentical hematopoietic stem cell transplant (HSCT) using a reduced intensity conditioning (RIC) regimen. This regimen consists of fludarabine, cyclophosphamide and low dose total body irradiation (TBI).

Fludarabine: Fludarabine 30 mg/m2 IV over 30-60 minutes on days -6 through -2 before transplant.

Cyclophosphamide: Cyclophosphamide 14.5 mg/kg IV over 1-2 hours on days -6 and -5 before transplant and Cyclophosphamide 50 mg/kg IV on days 3 and 4 post-transplant.

Total Body Irradiation: TBI 200cGy (centigray) on day -1 before transplant.

Haploidentical stem cell transplant: Non-T-cell depleted bone marrow infusion

Overall Study

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Identifying Characteristics of Bone Marrow Failure Syndromes	NCT00315419	Bone Marrow Fai... Anemia, Aplasti... Myelodysplastic... Hemoglobinuria,... Red-Cell Aplasi... Purpura, Thromb... Leukemia, Lymph...		11 Years -	Office of Rare Diseases (ORD)
Reduced Intensity Conditioning and Haploidentical Related Bone Marrow for Patients With Hematologic Diseases	NCT02145039	Acute Leukemias Burkitt's Lymph... Chronic Myeloge...	Fludarabine Cyclophosphamid... Total Body Irra... Haploidentical ...	- 74 Years	Masonic Cancer Center, University of Minnesota
Reduced Intensity Conditioning and Haploidentical Related Bone Marrow for Patients With Hematologic Diseases	NCT02145039	Acute Leukemias Burkitt's Lymph... Chronic Myeloge...	Fludarabine Cyclophosphamid... Total Body Irra... Haploidentical ...	- 74 Years	Masonic Cancer Center, University of Minnesota
Reduced Intensity Conditioning and Haploidentical Related Bone Marrow for Patients With Hematologic Diseases	NCT02145039	Acute Leukemias Burkitt's Lymph... Chronic Myeloge...	Fludarabine Cyclophosphamid... Total Body Irra... Haploidentical ...	- 74 Years	Masonic Cancer Center, University of Minnesota

Spots Global Cancer Trial Database for bone marrow failure syndromes