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ClinicalTrials.gov public records Last synced May 21, 2026, 5:33 PM EDT

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Showing 1–17 of 17 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Shwachman-Diamond Syndrome Clear all
Completed Phase 2 Interventional
View directory record Official record
Conditions
Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Hereditary Sideroblastic Anemia, Paroxysmal Nocturnal Hemoglobinuria, Shwachman-Diamond Syndrome, Hematologic Neoplasm With Germline GATA2 Mutation, Hematologic Neoplasm With Germline SAMD9 Mutation, Hematologic Neoplasm With Germline SAMD9L Mutation
Interventions
Treosulfan, Fludarabine Phosphate, Tacrolimus, Methotrexate, Lapine T-Lymphocyte Immune Globulin, Peripheral Blood Stem Cell Transplantation, Allogeneic Bone Marrow Transplantation, Quality-of-Life Assessment, Echocardiography, Multigated Acquisition Scan, Bone Marrow Biopsy, Bone Marrow Aspiration, Biospecimen Collection, X-Ray Imaging, Computed Tomography
Drug · Biological · Procedure + 1 more
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
1 Year to 49 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
24
States / cities
Los Angeles, California • San Diego, California • San Francisco, California + 20 more
Source: ClinicalTrials.gov public record
Updated Mar 8, 2026 · Synced May 21, 2026, 5:33 PM EDT
Terminated Phase 2 Interventional Results available
View directory record Official record
Conditions
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia, Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations, Aplastic Anemia, B-Cell Non-Hodgkin Lymphoma, CD40 Ligand Deficiency, Chronic Granulomatous Disease, Chronic Leukemia in Remission, Chronic Lymphocytic Leukemia, Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Chronic Myelomonocytic Leukemia, Chronic Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Congenital Amegakaryocytic Thrombocytopenia, Congenital Neutropenia, Congenital Pure Red Cell Aplasia, Glanzmann Thrombasthenia, Immunodeficiency Syndrome, Myelodysplastic Syndrome, Myelofibrosis, Myeloproliferative Neoplasm, Paroxysmal Nocturnal Hemoglobinuria, Plasma Cell Myeloma, Polycythemia Vera, Recurrent Non-Hodgkin Lymphoma, Refractory Non-Hodgkin Lymphoma, Secondary Acute Myeloid Leukemia, Secondary Myelodysplastic Syndrome, Severe Aplastic Anemia, Shwachman-Diamond Syndrome, Sickle Cell Disease, T-Cell Non-Hodgkin Lymphoma, Thalassemia, Waldenstrom Macroglobulinemia, Wiskott-Aldrich Syndrome
Interventions
Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis, Peripheral Blood Stem Cell Transplantation, Total-Body Irradiation
Drug · Other · Procedure + 1 more
Lead sponsor
Roswell Park Cancer Institute
Other
Eligibility
1 Year to 75 Years
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
1
States / cities
Buffalo, New York
Source: ClinicalTrials.gov public record
Updated Jul 3, 2025 · Synced May 21, 2026, 5:33 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Accelerated Phase Chronic Myelogenous Leukemia, Adult Acute Lymphoblastic Leukemia in Remission, Adult Acute Myeloid Leukemia in Remission, Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q), Adult Acute Myeloid Leukemia With Inv(16)(p13;q22), Adult Acute Myeloid Leukemia With t(15;17)(q22;q12), Adult Acute Myeloid Leukemia With t(16;16)(p13;q22), Adult Acute Myeloid Leukemia With t(8;21)(q22;q22), Adult Grade III Lymphomatoid Granulomatosis, Adult Nasal Type Extranodal NK/T-cell Lymphoma, Anaplastic Large Cell Lymphoma, Angioimmunoblastic T-cell Lymphoma, Aplastic Anemia, Burkitt Lymphoma, Childhood Acute Lymphoblastic Leukemia in Remission, Childhood Acute Myeloid Leukemia in Remission, Childhood Chronic Myelogenous Leukemia, Childhood Diffuse Large Cell Lymphoma, Childhood Grade III Lymphomatoid Granulomatosis, Childhood Immunoblastic Large Cell Lymphoma, Childhood Myelodysplastic Syndromes, Childhood Nasal Type Extranodal NK/T-cell Lymphoma, Chronic Myelomonocytic Leukemia, Chronic Phase Chronic Myelogenous Leukemia, Congenital Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue, Hepatosplenic T-cell Lymphoma, Juvenile Myelomonocytic Leukemia, Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable, Nodal Marginal Zone B-cell Lymphoma, Paroxysmal Nocturnal Hemoglobinuria, Peripheral T-cell Lymphoma, Polycythemia Vera, Post-transplant Lymphoproliferative Disorder, Previously Treated Myelodysplastic Syndromes, Primary Myelofibrosis, Recurrent Adult Acute Lymphoblastic Leukemia, Recurrent Adult Acute Myeloid Leukemia, Recurrent Adult Burkitt Lymphoma, Recurrent Adult Diffuse Large Cell Lymphoma, Recurrent Adult Diffuse Mixed Cell Lymphoma, Recurrent Adult Diffuse Small Cleaved Cell Lymphoma, Recurrent Adult Grade III Lymphomatoid Granulomatosis, Recurrent Adult Hodgkin Lymphoma, Recurrent Adult Immunoblastic Large Cell Lymphoma, Recurrent Adult Lymphoblastic Lymphoma, Recurrent Adult T-cell Leukemia/Lymphoma, Recurrent Childhood Acute Lymphoblastic Leukemia, Recurrent Childhood Acute Myeloid Leukemia, Recurrent Childhood Anaplastic Large Cell Lymphoma, Recurrent Childhood Grade III Lymphomatoid Granulomatosis, Recurrent Childhood Large Cell Lymphoma, Recurrent Childhood Lymphoblastic Lymphoma, Recurrent Childhood Small Noncleaved Cell Lymphoma, Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma, Recurrent Grade 1 Follicular Lymphoma, Recurrent Grade 2 Follicular Lymphoma, Recurrent Grade 3 Follicular Lymphoma, Recurrent Mantle Cell Lymphoma, Recurrent Marginal Zone Lymphoma, Recurrent Mycosis Fungoides/Sezary Syndrome, Recurrent Small Lymphocytic Lymphoma, Recurrent/Refractory Childhood Hodgkin Lymphoma, Refractory Chronic Lymphocytic Leukemia, Refractory Hairy Cell Leukemia, Refractory Multiple Myeloma, Secondary Acute Myeloid Leukemia, Secondary Myelodysplastic Syndromes, Secondary Myelofibrosis, Severe Combined Immunodeficiency, Severe Congenital Neutropenia, Shwachman-Diamond Syndrome, Splenic Marginal Zone Lymphoma, T-cell Large Granular Lymphocyte Leukemia, Waldenstrom Macroglobulinemia, Wiskott-Aldrich Syndrome
Interventions
fludarabine phosphate, melphalan, total-body irradiation, tacrolimus, mycophenolate mofetil, methotrexate, laboratory biomarker analysis, allogeneic hematopoietic stem cell transplantation, peripheral blood stem cell transplantation
Drug · Radiation · Other + 1 more
Lead sponsor
Roswell Park Cancer Institute
Other
Eligibility
3 Years to 75 Years
Enrollment
94 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
1
States / cities
Buffalo, New York
Source: ClinicalTrials.gov public record
Updated Sep 23, 2019 · Synced May 21, 2026, 5:33 PM EDT
Terminated Phase 1 Interventional Results available
View directory record Official record
Conditions
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies, Metabolic Disorders
Interventions
BPX-501 and Rimiducid
Biological
Lead sponsor
Bellicum Pharmaceuticals
Industry
Eligibility
4 Months to 55 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Mar 24, 2024 · Synced May 21, 2026, 5:33 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Non-Neoplastic Hematologic and Lymphocytic Disorder
Interventions
Allogeneic Bone Marrow Transplantation, Anti-Thymocyte Globulin, Cyclosporine, Fludarabine Phosphate, Laboratory Biomarker Analysis, Methotrexate, Mycophenolate Mofetil, Peripheral Blood Stem Cell Transplantation, Tacrolimus, Total-Body Irradiation, Treosulfan, Umbilical Cord Blood Transplantation
Procedure · Biological · Drug + 2 more
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
Up to 49 Years
Enrollment
98 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2020
U.S. locations
6
States / cities
Aurora, Colorado • Portland, Oregon • Nashville, Tennessee + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 12, 2021 · Synced May 21, 2026, 5:33 PM EDT
Completed Phase 1 Interventional
View directory record Official record
Conditions
Hurler Syndrome, Fanconi Anemia, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Shwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia, Thalassemia Major, Hemophagocytic Lymphohistiocytosis, Sickle Cell Disease
Interventions
Abatacept
Drug
Lead sponsor
Emory University
Other
Eligibility
Up to 21 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Dec 25, 2019 · Synced May 21, 2026, 5:33 PM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Shwachman-Diamond Syndrome, Shwachman-Diamond Syndrome-Like
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
5,000 participants
Timeline
2016 – 2090
U.S. locations
4
States / cities
Aurora, Colorado • Boston, Massachusetts • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 5, 2026 · Synced May 21, 2026, 5:33 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional
View directory record Official record
Conditions
Chronic Myeloid Leukemia (CML), Acute Myelogenous Leukemia (AML), Myelodysplastic Syndrome (MDS), Juvenile Myelomonocytic Leukemia (JMML), Acute Lymphoblastic Leukemia (ALL), Lymphoma (Hodgkin's and Non-Hodgkin's)
Interventions
CliniMACS CD34+ Reagent System, Thiotepa, Cyclophosphamide, Alemtuzumab, Tacrolimus, Melphalan, Busulfan, Fludarabine, Methylprednisolone
Device · Drug
Lead sponsor
Diane George
Other
Eligibility
Up to 22 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2026
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 3, 2024 · Synced May 21, 2026, 5:33 PM EDT
Recruiting Phase 3 Interventional
View directory record Official record
Conditions
Neutropenia
Interventions
Mavorixafor, Placebo
Drug
Lead sponsor
X4 Pharmaceuticals
Industry
Eligibility
12 Years and older
Enrollment
176 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
22
States / cities
Phoenix, Arizona • Irvine, California • La Jolla, California + 19 more
Source: ClinicalTrials.gov public record
Updated Apr 12, 2026 · Synced May 21, 2026, 5:33 PM EDT
Terminated Not applicable Interventional Results available
View directory record Official record
Conditions
Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic-granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Schwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Fanconi Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia
Interventions
Alefacept
Drug
Lead sponsor
Emory University
Other
Eligibility
Up to 21 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Jul 26, 2017 · Synced May 21, 2026, 5:33 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Shwachman-Diamond Syndrome
Interventions
Oral Glucose Tolerance Test, Modified Oral Glucose Tolerance Test, Modified Mixed Meal Tolerance Test, Continuous Glucose Monitor, Food Diary, Medical History Questionnaires
Diagnostic Test · Other · Device
Lead sponsor
Washington University School of Medicine
Other
Eligibility
3 Years and older
Enrollment
11 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2022
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Aug 18, 2024 · Synced May 21, 2026, 5:33 PM EDT
Completed Phase 2Phase 3 Interventional Results available
View directory record Official record
Conditions
Diamond-Blackfan Anemia, Kostmann's Neutropenia, Shwachman-Diamond Syndrome
Interventions
Stem cell transplant, Fludarabine monophosphate, Total lymphoid irradiation, Busulfan, anti-thymocyte globulin
Procedure · Drug · Biological
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 35 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2009
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 27, 2017 · Synced May 21, 2026, 5:33 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome, Inherited Bone Marrow Failure Syndrome, Aplastic Anemia
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
1 Day to 100 Years
Enrollment
4,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2001
U.S. locations
2
States / cities
Bethesda, Maryland • Rockville, Maryland
Source: ClinicalTrials.gov public record
Updated May 6, 2026 · Synced May 21, 2026, 5:33 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional
View directory record Official record
Conditions
Bone Marrow Failure Syndrome, Severe Aplastic Anemia, Severe Congenital Neutropenia, Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Schwachman Diamond Syndrome, Primary Immunodeficiency Syndromes, Acquired Immunodeficiency Syndromes, Histiocytic Syndrome, Familial Hemophagocytic Lymphocytosis, Lymphohistiocytosis, Macrophage Activation Syndrome, Langerhans Cell Histiocytosis (LCH), Hemoglobinopathies, Sickle Cell Disease, Sickle Cell-beta-thalassemia
Interventions
CD34 Stem Cell Selection Therapy
Biological
Lead sponsor
Diane George
Other
Eligibility
Up to 40 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2030
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 13, 2025 · Synced May 21, 2026, 5:33 PM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia, Heme Malignancy, Shwachman Syndrome, Inherited Bone Marrow Failure, Exocrine Pancreatic Insufficiency, WHIM, ELANE, SBDS Gene Mutation, EFL1 Gene Mutation, DNAJC21 Gene Mutation, SRP54 Gene Mutation, Inherited Cancer Syndrome, Inherited Cancer-Predisposing Syndrome, Neutropenia, Severe Chronic, Neutropenia Other, Neutropenia Chronic Benign, Ribosome Alteration, Ribosomopathy, Immune Deficiency, Inherited BMF Syndrome, Inherited Immunodeficiency Diseases, Cognitive Delay, Mild, Myelodysplastic Syndromes, Pancytopenia
Interventions
Not listed
Lead sponsor
Shwachman-Diamond Syndrome Alliance Inc
Other
Eligibility
Not listed
Enrollment
8,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2088
U.S. locations
1
States / cities
Woburn, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 30, 2025 · Synced May 21, 2026, 5:33 PM EDT
Terminated Not applicable Interventional
View directory record Official record
Conditions
Sickle Cell Disease, Transfusion Dependent Alpha- or Beta- Thalassemia, Diamond Blackfan Anemia, Paroxysmal Nocturnal Hemoglobinuria, Glanzmann Thrombasthenia, Severe Congenital Neutropenia, Shwachman-Diamond Syndrome, Non-Malignant Hematologic Disorders
Interventions
Reduced Toxicity Ablative Regimen, Reduced Intensity Preparative Regimen, Myeloablative Preparative Regimen
Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 55 Years
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2024
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Mar 2, 2025 · Synced May 21, 2026, 5:33 PM EDT
Completed Phase 2Phase 3 Interventional Results available
View directory record Official record
Conditions
Sickle Cell Disease, Thalassemia, Severe Congenital Neutropenia, Diamond-Blackfan Anemia, Shwachman-Diamond Syndrome
Interventions
Busulfan, Fludarabine, ATG, TLI, Busulfan, Cyclophosphamide, ATG, GCSF, Campath, Fludarabine, Cyclophosphamide, Total Body Irradiation, Stem cell infusion
Drug · Radiation · Procedure
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 50 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2020
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Feb 26, 2020 · Synced May 21, 2026, 5:33 PM EDT