Clinical trials: Kostmann
Crohn's Disease, Glycogen Metabolism
Empagliflozin as a Treatment for Severe Congenital Neutropenia Due to G6PC3 Deficiency
Background: Severe congenital neutropenia (SCN) is an immune system disease. People with SCN do not have enough of a kind of white blood cell called neutrophils. This means they get sick easily from infections.
- Conditions
- Crohn's Disease, Glycogen Metabolism, Inflammatory Bowel Disease (IBD)
- Trial name
- NCT05078879
- Testing
- Empagliflozin
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission
Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
This phase II trial studies how well fludarabine phosphate, cyclophosphamide, total body irradiation, and donor stem cell transplant work in treating patients with blood cancer.
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
- Trial name
- NCT03333486
- Testing
- Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Roswell Park Cancer Institute
Thalassemia, Sickle Cell Disease
Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
Allogeneic blood and marrow transplantation remains the only viable cure for children who suffer from many serious non-malignant hematological diseases. Transplantation, however, carries a high risk of fatal complications.
- Conditions
- Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome
- Trial name
- NCT01319851
- Testing
- Alefacept
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Emory University
Sickle Cell Disease, Transfusion Dependent Alpha- or Beta- Thalassemia
Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
This is a study to collect the outcomes of stem cell transplantation for patients with hematologic diseases other than cancer.
- Conditions
- Sickle Cell Disease, Transfusion Dependent Alpha- or Beta- Thalassemia, Diamond Blackfan Anemia, Paroxysmal Nocturnal Hemoglobinuria
- Trial name
- NCT02179359
- Testing
- Reduced Toxicity Ablative Regimen, Reduced Intensity Preparative Regimen, Myeloablative Preparative Regimen
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Severe Congenital Neutropenia, GATA2 Deficiency
Total Lymphoid Irradiation Pre-HSCT in Severe Congenital Neutropenia
Severe congenital neutropenia (SCN) is a group of primary immunodeficiencies caused by distinct gene mutations and characterized by neutrophil maturation impairment, which leads to neutropenia, predisposition to severe bacterial…
- Trial name
- NCT04844177
- Testing
- conditioning with TLI
- Where
- Russia
- Volunteers
- 10 people
- Sponsor
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Congenital Neutropenia
Screening for Genes in Patients With Congenital Neutropenia
Syndromic congenital neutropenia (SCN) includes a heterogeneous group of diseases characterized by congenital neutropenia associated with the involvement of other organs.
- Trial name
- neutropenias (NCT02866162)
- Testing
- High-throughput exome sequencing
- Where
- France
- Volunteers
- 25 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Neutropenia
A Study of Mavorixafor in Participants With Congenital Neutropenia and Chronic Idiopathic Neutropenia Disorders
This is a 2-part study of mavorixafor in participants diagnosed with chronic neutropenia. The main goal of Part 1 (Phase 1b) is to help researchers learn more about how the investigational medicine, mavorixafor, impacts people…
- Trial name
- NCT04154488
- Testing
- Mavorixafor
- Where
- 7 sites in United States
- Volunteers
- 32 people
- Sponsor
- X4 Pharmaceuticals
Congenital Amegakaryocytic Thrombocytopenia, Diamond-blackfan Anemia
Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
RATIONALE: Monoclonal antibodies, such as alemtuzumab, can block cancer growth in different ways. Some block the ability of cancer cells to grow and spread.
- Conditions
- Congenital Amegakaryocytic Thrombocytopenia, Diamond-blackfan Anemia, Leukemia, Myelodysplastic Syndromes
- Trial name
- NCT00301834
- Testing
- alemtuzumab, busulfan, cyclosporine
- Where
- 2 sites in United States
- Volunteers
- 35 people
- Sponsor
- University of California, San Francisco
Neutropenia, Sickle Cell Anemia
Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders
OBJECTIVES: I. Determine the efficacy of bone marrow transplantation using matched related donors in patients with nonmalignant hematologic disorders. II.
- Conditions
- Neutropenia, Sickle Cell Anemia, Thalassemia Major, Red-Cell Aplasia, Pure
- Trial name
- NCT00005893
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Sponsor
- Fairview University Medical Center
Bone Marrow Failure Syndromes, Erythrocyte Disorder
Investigation of the Genetics of Hematologic Diseases
The purpose of this study is to collect and store samples and health information for current and future research to learn more about the causes and treatment of blood diseases.
- Conditions
- Bone Marrow Failure Syndromes, Erythrocyte Disorder, Leukocyte Disorder, Hemostasis
- Trial name
- NCT02720679
- Where
- United States
- Volunteers
- 1,716 people
- Sponsor
- St. Jude Children's Research Hospital
Anemia, Aplastic, Amegakaryocytic Thrombocytopenia
Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias
Due to an overall and disease free survival of 85% to 100%, allogeneic blood or bone marrow stem cell transplantation using an HLA matched sibling donor is the therapy of choice for patients with severe aplastic anemia (SAA).
- Conditions
- Anemia, Aplastic, Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Kostmann Syndrome
- Trial name
- NCT00244010
- Testing
- Allogeneic stem cell transplant
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- St. Jude Children's Research Hospital
Inherited Bone Marrow Failure Syndrome, Fanconi Anemia
Enhancing the Clinical Management of CMF Through a National Pediatric and Adult Network Based on Biological and Genetic Data
A non-profit, translational, prospective and retrospective study. Patients will be enrolled according to the procedures described in the protocol, and samples will be processed and analyzed as specified in the protocol.
- Conditions
- Inherited Bone Marrow Failure Syndrome, Fanconi Anemia, Dyskeratosis Congenita, Telomere Biology Disorder
- Trial name
- 2023-12377081 (NCT07877727)
- Where
- 4 sites in Italy
- Volunteers
- 250 people
- Sponsor
- Istituto Giannina Gaslini
Shwachman-Diamond Syndrome, SDS
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe…
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia
- Trial name
- SDS-GPS (NCT06999954)
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Shwachman-Diamond Syndrome Alliance Inc
Neutropenia
A Study of Mavorixafor in Participants With Congenital and Acquired Primary Autoimmune and Idiopathic Chronic Neutropenic Disorders Who Are Experiencing Recurrent and/or Serious Infections
The purpose of this study is to demonstrate the efficacy and evaluate the safety and tolerability of mavorixafor in participants with congenital or acquired primary autoimmune and idiopathic chronic neutropenic disorders who are…
- Trial name
- NCT06056297
- Testing
- Mavorixafor
- Where
- 114 sites in United States, Argentina and 23 more
- Volunteers
- 176 people
- Sponsor
- X4 Pharmaceuticals
Chronic Myeloid Leukemia (CML), Acute Myelogenous Leukemia (AML)
CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant
The purpose of this study is to learn more about the effects of (classification determinant) CD34+ stem cell selection on graft versus host disease (GVHD) in children, adolescents, and young adults.
- Conditions
- Chronic Myeloid Leukemia (CML), Acute Myelogenous Leukemia (AML), Myelodysplastic Syndrome (MDS), Juvenile Myelomonocytic Leukemia (JMML)
- Trial name
- NCT02061800
- Testing
- CliniMACS CD34+ Reagent System, Thiotepa, Cyclophosphamide
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Diane George
Congenital Amegakaryocytic Thrombocytopenia, Diamond-blackfan Anemia
Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
RATIONALE: Drugs used in chemotherapy, such as busulfan and fludarabine, work in different ways to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing.
- Conditions
- Congenital Amegakaryocytic Thrombocytopenia, Diamond-blackfan Anemia, Fanconi Anemia, Leukemia
- Trial name
- NCT00305708
- Testing
- anti-thymocyte globulin, busulfan, fludarabine phosphate
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of California, San Francisco
Sickle Cell Disease, Thalassemia
Stem Cell Transplant for Hemoglobinopathy
This study tests the clinical outcomes of one of two preparative regimens (determined by available donor source) in patients with non-malignant hemoglobinopathies.
- Conditions
- Sickle Cell Disease, Thalassemia, Severe Congenital Neutropenia, Diamond-Blackfan Anemia
- Trial name
- NCT00176852
- Testing
- Busulfan, Fludarabine, ATG, TLI, Busulfan, Cyclophosphamide, ATG, GCSF, Campath, Fludarabine, Cyclophosphamide
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Sickle Cell Disease, Thalassemia
Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
This is a clinical trial of bone marrow transplantation for patients with the diagnosis of a genetic disease of blood cells that do not have an HLA-matched sibling donor.
- Conditions
- Sickle Cell Disease, Thalassemia, Anemia, Granuloma
- Trial name
- NCT00730314
- Testing
- Hematopoietic stem cell transplantation
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Children's Hospital Los Angeles
Bone Marrow Failure Syndrome, Severe Aplastic Anemia
CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
This study's goal is to determine the frequency and severity of acute graft versus host disease, to evaluate incidence of primary and secondary graft rejection, to assess event free survival and overall survival, to determine the…
- Conditions
- Bone Marrow Failure Syndrome, Severe Aplastic Anemia, Severe Congenital Neutropenia, Amegakaryocytic Thrombocytopenia
- Trial name
- NCT01966367
- Testing
- CD34 Stem Cell Selection Therapy
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- Diane George