Clinical trials: Schwachman Diamond Syndrome
Dyskeratosis Congenita, Fanconi Anemia
Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
RATIONALE: Studying biopsy, bone marrow, and blood samples from patients with cytopenia that did not respond to treatment may help doctors learn more about the disease and plan the best treatment.
- Conditions
- Dyskeratosis Congenita, Fanconi Anemia, Myelodysplastic Syndromes, Pearson Marrow-pancreas Syndrome
- Trial name
- NCT00499070
- Testing
- polymerase chain reaction, flow cytometry, immunologic technique
- Where
- 10 sites in Austria, Belgium and 8 more
- Volunteers
- 119 people
- Sponsor
- University Hospital Freiburg
Metabolic Disorder; Carbohydrate, Absorption, Intestine
Determination of the Postprandial Responses to Two Cereal Foods Differing by Their SDS Content Consumed Alone.
This study aimed at determining the 4-hours postprandial blood glucose and insulin responses to the ingestion of cereal product differing by their SDS content.
- Trial name
- NCT02538653
- Testing
- Sandwich biscuit high in SDS, Co-extruded cereal low in SDS
- Where
- Australia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Mondelēz International, Inc.
Diamond-Blackfan Anemia, Kostmann's Neutropenia
Stem Cell Transplant for Bone Marrow Failure Syndromes
The researchers hypothesize that it will be possible to perform unrelated bone marrow or cord blood transplants in a safer manner by using less intensive therapy yet still achieve an acceptable level of donor cell engraftment for…
- Conditions
- Diamond-Blackfan Anemia, Kostmann's Neutropenia, Shwachman-Diamond Syndrome
- Trial name
- NCT00176878
- Testing
- Stem cell transplant, Fludarabine monophosphate, Total lymphoid irradiation
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
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
Shwachman Syndrome, Fanconi's Anemia
Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
OBJECTIVES: I. Assess the efficacy of recombinant human granulocyte colony-stimulating factor (G-CSF) in raising the absolute neutrophil count, platelet count, and hemoglobin level in patients with inherited bone marrow failure…
- Conditions
- Shwachman Syndrome, Fanconi's Anemia, Dyskeratosis Congenita, Thrombocytopenia
- Trial name
- NCT00004787
- Testing
- filgrastim
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Shwachman-Diamond Syndrome
Diabetes/ Endocrine Surveillance in SDS
Shwachman-Diamond syndrome(SDS) is a rare autosomal recessive disorder involving primarily the Shwachman-Bodian-Diamond syndrome gene located on chromosome 7q11.
- Trial name
- NCT04275479
- Testing
- Oral Glucose Tolerance Test, Modified Oral Glucose Tolerance Test, Modified Mixed Meal Tolerance Test
- Where
- United States
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
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
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
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
Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia
Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
This phase II trial tests whether treosulfan, fludarabine, and rabbit antithymocyte globulin (rATG) work when given before a blood or bone marrow transplant (conditioning regimen) to cause fewer complications for patients with…
- Conditions
- Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Hereditary Sideroblastic Anemia
- Trial name
- NCT04965597
- Testing
- Treosulfan, Fludarabine Phosphate, Tacrolimus
- Where
- 24 sites in United States
- Volunteers
- 40 people
- Sponsor
- Fred Hutchinson Cancer Center
Accelerated Phase Chronic Myelogenous Leukemia, Adult Acute Lymphoblastic Leukemia in Remission
Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
This phase II trial studies how well giving fludarabine phosphate, melphalan, and low-dose total-body irradiation (TBI) followed by donor peripheral blood stem cell transplant (PBSCT) works in treating patients with hematologic…
- 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
- Trial name
- NCT01529827
- Testing
- fludarabine phosphate, melphalan, total-body irradiation
- Where
- United States
- Volunteers
- 94 people
- Sponsor
- Roswell Park Cancer Institute
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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
Hurler Syndrome, Fanconi Anemia
Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
This is a single arm, phase I study to assess the tolerability of abatacept when combined with cyclosporine and mycophenolate mofetil as graft versus host disease prophylaxis in children undergoing unrelated hematopoietic stem…
- Conditions
- Hurler Syndrome, Fanconi Anemia, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome
- Trial name
- NCT01917708
- Testing
- Abatacept
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Emory University
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
Non-Neoplastic Hematologic and Lymphocytic Disorder
Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders
This phase II clinical trial studies how well treosulfan and fludarabine phosphate with or without low dose radiation before donor stem cell transplantation works in treating patients with nonmalignant (noncancerous) diseases.
- Trial name
- NCT00919503
- Testing
- Allogeneic Bone Marrow Transplantation, Anti-Thymocyte Globulin, Cyclosporine
- Where
- 6 sites in United States
- Volunteers
- 98 people
- Sponsor
- Fred Hutchinson Cancer Center
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
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
Shwachman-Diamond Syndrome, Shwachman-Diamond Syndrome-Like
Shwachman Diamond Syndrome Registry and Study
Shwachman-Diamond syndrome (SDS) is a genetic condition characterized by bone marrow failure, medical co-morbidities, and leukemia predisposition.
- Trial name
- SDSR (NCT06056908)
- Where
- 4 sites in United States
- Volunteers
- 5,000 people
- Sponsor
- Boston Children's Hospital