Clinical trials: Inherited Bone Marrow Failure Syndrome
Inherited Bone Marrow Failure Syndrome, Familial Platelet Disorder With Predisposition to Myeloid Malignancies
Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency
Background: Runt-related transcription factor 1 (RUNX1) gene regulates the formation of blood cells. People with mutations of this gene may bleed or bruise easily; they are also at higher risk of getting cancers of the blood…
- Trial name
- NCT06090669
- Testing
- TruSight Oncology, imatinib
- Where
- United States
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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.
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
Lymphoma, Leukemia
Transfer of Effector Memory T Cells (Tem) Following Allogeneic Stem Cell Transplantation
RATIONALE: Following stem cell transplantation, a major risk is graft-versus-host disease (GVHD). This occurs when donor immune cells that have been infused recognise the host's cells as 'foreign' and attack these cells.
- Conditions
- Lymphoma, Leukemia, Myeloma, Myelodysplastic Syndromes
- Trial name
- ToTem (NCT03836690)
- Testing
- CD62L- Tem
- Where
- United Kingdom
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University College, London
Alcohol-Related Carcinoma, Fanconi Anemia
Role of Acetaldehyde in the Development of Oral Cancer
This is a minimal risk intervention study where healthy volunteers and individuals with Fanconi anemia will consume a single dose of alcohol and provide primarily non-invasive biological samples at various time points.
- Conditions
- Alcohol-Related Carcinoma, Fanconi Anemia, Oral Cavity Carcinoma
- Trial name
- NCT05973656
- Testing
- Alcohol, Biospecimen Collection, Breath Test
- Where
- United States
- Volunteers
- 170 people, healthy volunteers welcome
- Sponsor
- Masonic Cancer Center, University of Minnesota
Chronic Myeloproliferative Disorders, Fanconi Anemia
Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma
RATIONALE: Analyzing tissue and blood samples from healthy volunteers or patients with Fanconi anemia, myelodysplasia, myeloproliferative disorders, or myeloma in the laboratory may help doctors learn more about the causes of…
- Conditions
- Chronic Myeloproliferative Disorders, Fanconi Anemia, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic/Myeloproliferative Neoplasms
- Trial name
- NCT00900055
- Testing
- microarray analysis, polyacrylamide gel electrophoresis, polymerase chain reaction
- Where
- United States
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- OHSU Knight Cancer Institute
Transfusional Iron Overload, Thalassemia Major
High-Tc Susceptometer to Monitor Transfusional Iron Overload
The proposed research project will continue the application and development of a new method (biomagnetic susceptometry) that measures magnetic fields to determine how much iron is in the liver.
- Conditions
- Transfusional Iron Overload, Thalassemia Major, Sickle Cell Disease, Myelodysplastic Syndromes
- Trial name
- NCT01241357
- Testing
- Hepatic biomagnetic susceptibility measurement
- Where
- United States
- Volunteers
- 99 people, healthy volunteers welcome
- Sponsor
- Columbia University
Sickle Cell Disease, Thalassemia
Multi-Center Study of Iron Overload: Pilot Study
The purpose of this study is to initiate pilot studies to demonstrate that a sufficient number of iron-overloaded thalassemia, SCD and DBA populations with similar duration of chronic transfusion, and age at start of transfusions…
- Conditions
- Sickle Cell Disease, Thalassemia, Diamond-Blackfan Anemia
- Trial name
- MCSIO (NCT01114776)
- Where
- 3 sites in United States, Germany and 1 more
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- UCSF Benioff Children's Hospital Oakland
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
Fanconi Anemia
Hematopoietic Stem Cell Transplantation for Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using Total Body Irradiation, Cyclophosphamide and Fludarabine
The purpose of this research study is to: (1) determine if the combination of low dose total body irradiation, low dose cyclophosphamide and the addition of fludarabine, and a serum to suppress the immune system can allow…
- Trial name
- NCT00595127
- Testing
- Cyclophosphamide, Fludarabine, Total body irradiation (TBI)
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Brain and Central Nervous System Tumors, Chronic Myeloproliferative Disorders
Influenza Vaccine in Preventing Flu in Patients Who Have Undergone Stem Cell Transplant and in Healthy Volunteers
RATIONALE: The influenza vaccine may help prevent flu in patients who have undergone stem cell transplant. PURPOSE: This clinical trial is studying how well the influenza vaccine works in preventing flu in patients who have…
- Conditions
- Brain and Central Nervous System Tumors, Chronic Myeloproliferative Disorders, Leukemia, Lymphoma
- Trial name
- NCT00952185
- Testing
- cytology specimen collection procedure, fluorescent antibody technique, assessment of therapy complications
- Where
- United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- City of Hope Medical Center
Aplastic Anemias, Hemoglobinopathies
The HOPE Biobank Resource (BMT CTN 2402 HOPE)
A prospective, multicenter study that will establish a repository of biospecimens and clinical data from patients undergoing hematopoietic stem cell transplant (HCT) or gene therapy (GT) for treatment of non-malignant blood…
- Conditions
- Aplastic Anemias, Hemoglobinopathies, Bone Marrow Failure
- Trial name
- HOPE Resource (NCT07227155)
- Where
- 14 sites in United States
- Volunteers
- 375 people, healthy volunteers welcome
- Sponsor
- Medical College of Wisconsin
Inherited BMF Syndrome
Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes
Inherited bone marrow failure syndromes (IBMFSs) are a diverse collection of genetic illnesses characterized by various degrees of peripheral cytopenias due to defective single-lineage or multi-lineage hematopoiesis, it can…
- Trial name
- NCT05436587
- Testing
- The whole-exome sequencing
- Where
- Egypt
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Sohag University
Haematological Malignancy, Acute Leukemia
Feasibility Study to Assess an Adapted Physical Activity Program in Children, Adolescents and Young Adults Requiring Hematopoietic Stem Cell Transplantation
Allogeneic haematopoietic stem cell transplantation (aHSCT) is the only curative treatment for many paediatric and young adult haematological pathologies (acute leukaemia, myelodysplastic syndromes haemoglobinopathies, bone…
- Conditions
- Haematological Malignancy, Acute Leukemia, Myelodysplastic Syndromes, Hemoglobinopathy in Children
- Trial name
- EVAADE (NCT05298930)
- Testing
- Physical activity program
- Where
- France
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Centre Leon Berard
FANCONI ANEMIA
Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT
While stem cell transplantation has proven an effective means of treating a wide variety of diseases involving hematopoietic stem cells and their progeny, a shortage of donors has proved a major impediment to the widest…
- Trial name
- RAFHAS (NCT00586274)
- Testing
- CD34 selected haploidentical PBSCT, Fludarabine, T cell infusion
- Where
- 2 sites in United States
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Chronic Myeloproliferative Disorders, Leukemia
Flu Vaccine in Preventing Influenza Infection in Healthy Volunteers and in Patients Who Have Undergone Stem Cell Transplant
RATIONALE: Studying immune response to flu vaccine in patients who have undergone a stem cell transplant may help doctors plan the best treatment.
- Conditions
- Chronic Myeloproliferative Disorders, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm
- Trial name
- NCT00964821
- Testing
- trivalent influenza vaccine, Immunoenzyme technique, Laboratory biomarker analysis
- Where
- 2 sites in United States
- Volunteers
- 459 people, healthy volunteers welcome
- Sponsor
- City of Hope Medical Center
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)
Fanconi Anemia
Gene Function in Bone Marrow Cells From Patients With Fanconi Anemia and From Healthy Participants
RATIONALE: Studying samples of bone marrow from patients with Fanconi anemia and from healthy participants in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to Fanconi…
- Trial name
- NCT00896740
- Testing
- microarray analysis, biopsy
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- OHSU Knight Cancer Institute